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  • Author(s): savage s

Results found: 250

Search all of PubMed for publications by Sharon A. Savage


Authors:Fortuno C,  Lee K,  Olivier M,  Pesaran T,  Mai PL,  de Andrade KC,  Attardi LD,  Crowley S,  Evans DG,  Feng BJ,  Foreman AKM,  Frone MN,  Huether R,  James PA,  McGoldrick K,  Mester J,  Seifert BA,  Slavin TP,  Witkowski L,  Zhang L,  Plon SE,  Spurdle AB,  Savage SA,  ClinGen TP53 Variant Curation Expert Panel
Title:Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Journal: Hum Mutat
Date:2020 Dec 10
Branches:CGB, OD
PubMed ID:33300245
PMC ID: not available

Authors:Sun C,  Wang K,  Stock AJ,  Gong Y,  Demarest TG,  Yang B,  Giri N,  Harrington L,  Alter BP,  Savage SA,  Bohr VA,  Liu Y
Title:Re-equilibration of imbalanced NAD metabolism ameliorates the impact of telomere dysfunction.
Journal: EMBO J 39(21):e103420
Date:2020 Nov 2
Branches:CGB, OD
PubMed ID:32935380
PMC ID: PMC7604620

Authors:Bhar S,  Zhou F,  Reineke LC,  Morris DK,  Khincha PP,  Giri N,  Mirabello L,  Bergstrom K,  Lemon LD,  Williams CL,  Toh Y,  Elghetany MT,  Lloyd RE,  Alter BP,  Savage SA,  Bertuch AA
Title:Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.
Journal: Hum Mutat 41(11):1918-1930
Date:2020 Nov
Branches:CGB, OD
PubMed ID:32790018
PMC ID: not available

Authors:Brown DW,  Lin SH,  Loh PR,  Chanock SJ,  Savage SA,  Machiela MJ
Title:Genetically predicted telomere length is associated with clonal somatic copy number alterations in peripheral leukocytes.
Journal: PLoS Genet 16(10):e1009078
Date:2020 Oct
Branches:CGB, CGR, ITEB, OD
PubMed ID:33090998
PMC ID: PMC7608979

Authors:Himes RW,  Chiou EH,  Queliza K,  Shouval DS,  Somech R,  Agarwal S,  Jajoo K,  Ziegler DS,  Kratz CP,  Huang J,  Lucas TL,  Myers KC,  Nelson AS,  DiNardo CD,  Alter BP,  Giri N,  Khincha PP,  McReynolds LJ,  Dufour C,  Pierri F,  Goldman FD,  Sherif Y,  Savage SA,  Miloh T,  Bertuch AA
Title:Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.
Journal: J Pediatr
Date:2020 Sep 21
Branches:CGB, OD
PubMed ID:32971146
PMC ID: not available

Authors:Fortuno C,  Mester J,  Pesaran T,  Weitzel JN,  Dolinsky J,  Yussuf A,  McGoldrick K,  Garber JE,  Savage SA,  Khincha PP,  Gareth Evans D,  Achatz MI,  Nichols KE,  Maxwell KN,  Schiffman JD,  Sandoval R,  Li-Fraumeni Exploration (LIFE) Consortium,  James PA,  Spurdle AB
Title:Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.
Journal: Hum Mutat 41(9):1555-1562
Date:2020 Sep
Branches:CGB, OD
PubMed ID:32485079
PMC ID: PMC7484289 [available on September 01, 2021]

Authors:Gao F,  Pan X,  Dodd-Eaton EB,  Recio CV,  Montierth MD,  Bojadzieva J,  Mai PL,  Zelley K,  Johnson VE,  Braun D,  Nichols KE,  Garber JE,  Savage SA,  Strong LC,  Wang W
Title:A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.
Journal: Genome Res 30(8):1170-1180
Date:2020 Aug
Branches:CGB, OD
PubMed ID:32817165
PMC ID: PMC7462073

Authors:Walcott FL,  Wang PY,  Bryla CM,  Huffstutler RD,  Singh N,  Pollak MN,  Khincha PP,  Savage SA,  Mai PL,  Dodd KW,  Hwang PM,  Fojo AT,  Annunziata CM
Title:Pilot Study Assessing Tolerability and Metabolic Effects of Metformin in Patients With Li-Fraumeni Syndrome.
Journal: JNCI Cancer Spectr 4(6):pkaa063
Date:2020 Dec
Branches:CGB, OD
PubMed ID:33490865
PMC ID: PMC7746650

Authors:McReynolds LJ,  Wang Y,  Thompson AS,  Ballew BJ,  Kim J,  Alter BP,  Hicks B,  Zhu B,  Jones K,  Spellman SR,  Wang T,  Lee SJ,  Savage SA,  Gadalla SM
Title:Population Frequency of Fanconi Pathway Gene Variants and Their Association with Survival After Hematopoietic Cell Transplantation for Severe Aplastic Anemia.
Journal: Biol Blood Marrow Transplant 26(5):817-822
Date:2020 May
Branches:BB, CGB, CGR, OD
PubMed ID:31982544
PMC ID: PMC7243455 [available on May 01, 2021]

Authors:Mirabello L,  Zhu B,  Koster R,  Karlins E,  Dean M,  Yeager M,  Gianferante M,  Spector LG,  Morton LM,  Karyadi D,  Robison LL,  Armstrong GT,  Bhatia S,  Song L,  Pankratz N,  Pinheiro M,  Gastier-Foster JM,  Gorlick R,  de Toledo SRC,  Petrilli AS,  Patino-Garcia A,  Lecanda F,  Gutierrez-Jimeno M,  Serra M,  Hattinger C,  Picci P,  Scotlandi K,  Flanagan AM,  Tirabosco R,  Amary MF,  Kurucu N,  Ilhan IE,  Ballinger ML,  Thomas DM,  Barkauskas DA,  Mejia-Baltodano G,  Valverde P,  Hicks BD,  Zhu B,  Wang M,  Hutchinson AA,  Tucker M,  Sampson J,  Landi MT,  Freedman ND,  Gapstur S,  Carter B,  Hoover RN,  Chanock SJ,  Savage SA
Title:Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma.
Journal: JAMA Oncol 6(5):724-734
Date:2020 May 1
Branches:BB, CGB, CGR, ITEB, LGS, LTG, MEB, OD, REB, TDRP
PubMed ID:32191290
PMC ID: PMC7082769

Authors:Toufektchan E,  Lejour V,  Durand R,  Giri N,  Draskovic I,  Bardot B,  Laplante P,  Jaber S,  Alter BP,  Londono-Vallejo JA,  Savage SA,  Toledo F
Title:Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance.
Journal: Sci Adv 6(15):eaay3511
Date:2020 Apr
Branches:CGB, OD
PubMed ID:32300648
PMC ID: PMC7148086

Authors:Gianferante DM,  Wlodarski MW,  Atsidaftos E,  Da Costa L,  Delaporta P,  Farrar JE,  Goldman FD,  Hussain M,  Kattamis A,  Leblanc T,  Lipton JM,  Niemeyer CM,  Pospisilova D,  Quarello P,  Ramenghi U,  Sankaran VG,  Vlachos A,  Volejnikova J,  Alter BP,  Savage SA,  Giri N
Title:Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.
Journal: Haematologica
Date:2020 Apr 2
Branches:CGB, OD
PubMed ID:32241839
PMC ID: not available

Authors:Gross AM,  Frone M,  Gripp KW,  Gelb BD,  Schoyer L,  Schill L,  Stronach B,  Biesecker LG,  Esposito D,  Hernandez ER,  Legius E,  Loh ML,  Martin S,  Morrison DK,  Rauen KA,  Wolters PL,  Zand D,  McCormick F,  Savage SA,  Stewart DR,  Widemann BC,  Yohe ME
Title:Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.
Journal: Am J Med Genet A 182(4):866-876
Date:2020 Apr
Branches:CGB, OD
PubMed ID:31913576
PMC ID: PMC7456498

Authors:Savage SA,  Viard M,  O'hUigin C,  Zhou W,  Yeager M,  Li SA,  Wang T,  Ramsuran V,  Vince N,  Vogt A,  Hicks B,  Burdett L,  Chung C,  Dean M,  de Andrade KC,  Freedman ND,  Berndt SI,  Rothman N,  Lan Q,  Cerhan JR,  Slager SL,  Zhang Y,  Teras LR,  Haagenson M,  Chanock SJ,  Spellman SR,  Wang Y,  Willis A,  Askar M,  Lee SJ,  Carrington M,  Gadalla SM
Title:Genome-wide Association Study Identifies HLA-DPB1 as a Significant Risk Factor for Severe Aplastic Anemia.
Journal: Am J Hum Genet 106(2):264-271
Date:2020 Feb 6
Branches:CGB, CGR, LTG, MEB, OD, OEEB
PubMed ID:32004448
PMC ID: PMC7010969

Authors:Shin SJ,  Dodd-Eaton EB,  Peng G,  Bojadzieva J,  Chen J,  Amos CI,  Frone MN,  Khincha PP,  Mai PL,  Savage SA,  Ballinger ML,  Thomas DM,  Yuan Y,  Strong LC,  Wang W
Title:Penetrance of Different Cancer Types in Families with Li-Fraumeni Syndrome: A Validation Study Using Multicenter Cohorts.
Journal: Cancer Res 80(2):354-360
Date:2020 Jan 15
Branches:CGB, OD
PubMed ID:31719101
PMC ID: PMC6980689

Authors:Steiner B,  Ferrucci LM,  Mirabello L,  Lan Q,  Hu W,  Liao LM,  Savage SA,  De Vivo I,  Hayes RB,  Rajaraman P,  Huang WY,  Freedman ND,  Loftfield E
Title:Association between coffee drinking and telomere length in the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial.
Journal: PLoS One 15(1):e0226972
Date:2020
Branches:CGB, MEB, OD, OEEB
PubMed ID:31914160
PMC ID: PMC6948744

Authors:Wang Y,  McReynolds LJ,  Dagnall C,  Katki HA,  Spellman SR,  Wang T,  Hicks B,  Freedman ND,  Jones K,  Lee SJ,  Savage SA,  Gadalla SM
Title:Pre-transplant short telomeres are associated with high mortality risk after unrelated donor haematopoietic cell transplant for severe aplastic anaemia.
Journal: Br J Haematol 188(2):309-316
Date:2020 Jan
Branches:BB, CGB, CGR, MEB, OD
PubMed ID:31426123
PMC ID: PMC6980174

Authors:Brodie SA,  Rodriguez-Aulet JP,  Giri N,  Dai J,  Steinberg M,  Waterfall JJ,  Roberson D,  Ballew BJ,  Zhou W,  Anzick SL,  Jiang Y,  Wang Y,  Zhu YJ,  Meltzer PS,  Boland J,  Alter BP,  Savage SA
Title:1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes.
Journal: Cold Spring Harb Mol Case Stud 5(6)
Date:2019 Dec
Branches:CGB, CGR, OD
PubMed ID:31836590
PMC ID: PMC6913155

Authors:Niewisch MR,  Savage SA
Title:An update on the biology and management of dyskeratosis congenita and related telomere biology disorders.
Journal: Expert Rev Hematol 12(12):1037-1052
Date:2019 Dec
Branches:CGB, OD
PubMed ID:31478401
PMC ID: not available

Authors:Giri N,  Ravichandran S,  Wang Y,  Gadalla SM,  Alter BP,  Fontana J,  Savage SA
Title:Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder.
Journal: ERJ Open Res 5(4)
Date:2019 Oct
Branches:CGB, OD
PubMed ID:31754622
PMC ID: PMC6856494

Authors:Wang Y,  Brummel SS,  Beilstein-Wedel E,  Dagnall CL,  Hazra R,  Kacanek D,  Chadwick EG,  Marsit CJ,  Chanock SJ,  Savage SA,  Poirier MC,  Machiela MJ,  Engels EA,  Pediatric HIV/AIDS Cohort Study
Title:Association between zidovudine-containing antiretroviral therapy exposure in utero and leukocyte telomere length at birth.
Journal: AIDS 33(13):2091-2096
Date:2019 Nov 1
Branches:CGB, CGR, IIB, ITEB, OD
PubMed ID:31335808
PMC ID: PMC6774838

Authors:Bhala S,  Best AF,  Giri N,  Alter BP,  Pao M,  Gropman A,  Baker EH,  Savage SA
Title:CNS manifestations in patients with telomere biology disorders.
Journal: Neurol Genet 5(6):370
Date:2019 Dec
Branches:CGB, OD
PubMed ID:31872047
PMC ID: PMC6878838

Authors:Pantaleao A,  Young JL,  Epstein NB,  Carlson M,  Bremer RC,  Khincha PP,  Peters JA,  Greene MH,  Roy K,  Achatz MI,  Savage SA,  Werner-Lin A
Title:Family Health Leaders: Lessons on Living with Li-Fraumeni Syndrome across Generations.
Journal: Fam Process
Date:2019 Oct 24
Branches:CGB, OD
PubMed ID:31647118
PMC ID: PMC7434614 [available on April 24, 2021]

Authors:Schonfeld Sara J.,  Merino Diana M.,  Curtis Rochelle E.,  de Gonzalez Amy Berrington,  Herr Megan M.,  Kleinerman Ruth A.,  Savage Sharon A.,  Tucker Margaret A.,  Morton Lindsay M.
Title:Risk of Second Primary Bone and Soft-Tissue Sarcomas Among Young Adulthood Cancer Survivors
Journal: JNCI Cancer Spectr 3(3)
Date:2019 Sep
Branches:CGB, OD, REB, TDRP
PubMed ID:not available
PMC ID: not available

Authors:Khincha PP,  Best AF,  Fraumeni JF Jr,  Loud JT,  Savage SA,  Achatz MI
Title:Reproductive factors associated with breast cancer risk in Li-Fraumeni syndrome.
Journal: Eur J Cancer 116:199-206
Date:2019 Jul
Branches:BB, CGB, OD
PubMed ID:31212162
PMC ID: not available

Authors:Schonfeld SJ,  Merino DM,  Curtis RE,  de González AB,  Herr MM,  Kleinerman RA,  Savage SA,  Tucker MA,  Morton LM
Title:Risk of Second Primary Bone and Soft-Tissue Sarcomas Among Young Adulthood Cancer Survivors.
Journal: JNCI Cancer Spectr 3(3):pkz043
Date:2019 Sep
Branches:CGB, OD, REB, TDRP
PubMed ID:32566895
PMC ID: PMC7049991

Authors:De Andrade KC,  Frone MN,  Wegman-Ostrosky T,  Khincha PP,  Kim J,  Amadou A,  Santiago KM,  Fortes FP,  Lemonnier N,  Mirabello L,  Stewart DR,  Hainaut P,  Kowalski LP,  Savage SA,  Achatz MI
Title:Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic.
Journal: Hum Mutat 40(6):832-833
Date:2019 Jun
Branches:CGB, OD
PubMed ID:30997946
PMC ID: not available

Authors:Young JL,  Pantaleao A,  Zaspel L,  Bayer J,  Peters JA,  Khincha PP,  Bremer RC,  Loud JT,  Greene MH,  Achatz MI,  Savage SA,  Werner-Lin A
Title:Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence.
Journal: J Psychosoc Oncol 37(2):178-193
Date:2019 Mar-Apr
Branches:CGB, OD
PubMed ID:30591002
PMC ID: PMC6584025

Authors:Higgs C,  Crow YJ,  Adams DM,  Chang E,  Hayes D Jr,  Herbig U,  Huang JN,  Himes R,  Jajoo K,  Johnson FB,  Reynolds SD,  Yonekawa Y,  Armanios M,  Boulad F,  DiNardo CD,  Dufour C,  Goldman FD,  Khan S,  Kratz C,  Myers KC,  Raghu G,  Alter BP,  Aubert G,  Bhala S,  Cowen EW,  Dror Y,  El-Youssef M,  Friedman B,  Giri N,  Helms Guba L,  Khincha PP,  Lin TF,  Longhurst H,  McReynolds LJ,  Nelson A,  Olson T,  Pariser A,  Perona R,  Sasa G,  Schratz K,  Simonetto DA,  Townsley D,  Walsh M,  Stevens K,  Agarwal S,  Bertuch AA,  Savage SA,  Clinical Care Consortium for Telomere-associated Ailments (CCCTAA)
Title:Understanding the evolving phenotype of vascular complications in telomere biology disorders.
Journal: Angiogenesis 22(1):95-102
Date:2019 Feb
Branches:CGB
PubMed ID:30168024
PMC ID: not available

Authors:De Andrade KC,  Frone MN,  Wegman-Ostrosky T,  Khincha PP,  Kim J,  Amadou A,  Santiago KM,  Fortes FP,  Lemonnier N,  Mirabello L,  Stewart DR,  Hainaut P,  Kowalski LP,  Savage SA,  Achatz MI
Title:Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
Journal: Hum Mutat 40(1):97-105
Date:2019 Jan
Branches:CGB
PubMed ID:30352134
PMC ID: PMC6296902

Authors:Kim J,  Luo W,  Wang M,  Wegman-Ostrosky T,  Frone MN,  Johnston JJ,  Nickerson ML,  Rotunno M,  Li SA,  Achatz MI,  Brodie SA,  Dean M,  de Andrade KC,  Fortes FP,  Gianferante M,  Khincha P,  McMaster ML,  McReynolds LJ,  Pemov A,  Pinheiro M,  Santiago KM,  Alter BP,  Caporaso NE,  Gadalla SM,  Goldin LR,  Greene MH,  Loud J,  Yang XR,  Freedman ND,  Gapstur SM,  Gaudet MM,  Calista D,  Ghiorzo P,  Fargnoli MC,  Nagore E,  Peris K,  Puig S,  Landi MT,  Hicks B,  Zhu B,  Liu J,  Sampson JN,  Chanock SJ,  Mirabello LJ,  Morton LM,  Biesecker LG,  Tucker MA,  Savage SA,  Goldstein AM,  Stewart DR
Title:Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.
Journal: Genome Med 10(1):99
Date:2018 Dec 24
Branches:BB, CGB, CGR, ITEB, LTG, MEB, OD, OEEB, REB, TDRP
PubMed ID:30583724
PMC ID: PMC6305568

Authors:Giri Neelam,  Gianferante Matthew,  Atsidaftos Evangelia,  Wlodarski Marcin W.,  Quarello Paola,  Volejnikova Jana,  Delaporta Polyxeni,  Sankaran Vijay G.,  Farrar Jason E.,  Hussain Maryam,  McReynolds Lisa J.,  Kattamis Antonis,  Lipton Jeffrey M.,  Niemeyer Charlotte,  Pospisilova Dagmar,  Ramenghi Ugo,  Savage Sharon A.,  Vlachos Adrianna,  Alter Blanche P.
Title:Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions
Journal: Blood 132(Suppl 1):Abstract 3854
Date:2018 Nov 29
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:McReynolds Lisa J.,  Jones Kristine,  Teshome Kedest,  Kennedy Alyssa,  Shimamura Akiko,  Giri Neelam,  Alter Blanche P.,  Savage Sharon A.
Title:Large Genomic Deletions in Shwachman-Diamond Syndrome
Journal: Blood 132(Suppl 1):Abstract 2586
Date:2018 Nov 29
Branches:CGB, CGR
PubMed ID:not available
PMC ID: not available

Authors:Wang Y,  Savage SA,  Alsaggaf R,  Aubert G,  Dagnall CL,  Spellman SR,  Lee SJ,  Hicks B,  Jones K,  Katki HA,  Gadalla SM
Title:Telomere Length Calibration from qPCR Measurement: Limitations of Current Method.
Journal: Cells 7(11)
Date:2018 Oct 24
Branches:BB, CGB, CGR
PubMed ID:30352968
PMC ID: PMC6262465

Authors:Wang Y,  Zhou W,  Alter BP,  Wang T,  Spellman SR,  Haagenson M,  Yeager M,  Lee SJ,  Chanock SJ,  Savage SA,  Gadalla SM
Title:Chromosomal Aberrations and Survival after Unrelated Donor Hematopoietic Stem Cell Transplant in Patients with Fanconi Anemia.
Journal: Biol Blood Marrow Transplant 24(10):2003-2008
Date:2018 Oct
Branches:CGB, CGR, OD
PubMed ID:29879518
PMC ID: PMC6239962

Authors:Park JH,  Li J,  Starost MF,  Liu C,  Zhuang J,  Chen J,  Achatz MI,  Kang JG,  Wang PY,  Savage SA,  Hwang PM
Title:Mouse Homolog of the Human TP53 R337H Mutation Reveals Its Role in Tumorigenesis.
Journal: Cancer Res 78(18):5375-5383
Date:2018 Sep 15
Branches:CGB
PubMed ID:30042151
PMC ID: PMC6139041

Authors:Machiela MJ,  Hofmann JN,  Carreras-Torres R,  Brown KM,  Johansson M,  Wang Z,  Foll M,  Li P,  Rothman N,  Savage SA,  Gaborieau V,  McKay JD,  Ye Y,  Henrion M,  Bruinsma F,  Jordan S,  Severi G,  Hveem K,  Vatten LJ,  Fletcher T,  Koppova K,  Larsson SC,  Wolk A,  Banks RE,  Selby PJ,  Easton DF,  Pharoah P,  Andreotti G,  Freeman LEB,  Koutros S,  Albanes D,  Mannisto S,  Weinstein S,  Clark PE,  Edwards TE,  Lipworth L,  Gapstur SM,  Stevens VL,  Carol H,  Freedman ML,  Pomerantz MM,  Cho E,  Kraft P,  Preston MA,  Wilson KM,  Gaziano JM,  Sesso HS,  Black A,  Freedman ND,  Huang WY,  Anema JG,  Kahnoski RJ,  Lane BR,  Noyes SL,  Petillo D,  Colli LM,  Sampson JN,  Besse C,  Blanche H,  Boland A,  Burdette L,  Prokhortchouk E,  Skryabin KG,  Yeager M,  Mijuskovic M,  Ognjanovic M,  Foretova L,  Holcatova I,  Janout V,  Mates D,  Mukeriya A,  Rascu S,  Zaridze D,  Bencko V,  Cybulski C,  Fabianova E,  Jinga V,  Lissowska J,  Lubinski J,  Navratilova M,  Rudnai P,  Szeszenia-Dabrowska N,  Benhamou S,  Cancel-Tassin G,  Cussenot O,  Bueno-de-Mesquita HBA,  Canzian F,  Duell EJ,  Ljungberg B,  Sitaram RT,  Peters U,  White E,  Anderson GL,  Johnson L,  Luo J,  Buring J,  Lee IM,  Chow WH,  Moore LE,  Wood C,  Eisen T,  Larkin J,  Choueiri TK,  Lathrop GM,  Teh BT,  Deleuze JF,  Wu X,  Houlston RS,  Brennan P,  Chanock SJ,  Scelo G,  Purdue MP
Title:Corrigendum re "Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma" [Eur Urol 2017;72:747-54].
Journal: Eur Urol 74(3):e85-e86
Date:2018 Sep
Branches:BB, CGB, CGR, ITEB, LGS, LTG, MEB, OD, OEEB
PubMed ID:29853305
PMC ID: PMC7400767

Authors:Savage SA,  Walsh MF
Title:Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia.
Journal: Hematol Oncol Clin North Am 32(4):657-668
Date:2018 Aug
Branches:CGB
PubMed ID:30047418
PMC ID: PMC6071325

Authors:Koster Roelof,  Panagiotou Orestis A.,  Wheeler William A.,  Karlins Eric,  Gastier-Foster Julie M.,  Caminada de Toledo Silvia Regina,  Petrilli Antonio S.,  Flanagan Adrienne M.,  Tirabosco Roberto,  Andrulis Irene L.,  Wunder Jay S.,  Gokgoz Nalan,  Patino-Garcia Ana,  Lecanda Fernando,  Serra Massimo,  Hattinger Claudia,  Picci Piero,  Scotlandi Katia,  Thomas David M.,  Ballinger Mandy L.,  Gorlick Richard,  Barkauskas Donald A.,  Spector Logan G.,  Tucker Margaret,  Hicks Belynda,  Yeager Meredith,  Hoover Robert,  Chanock Stephen J.,  Savage Sharon A.,  Mirabello Lisa J.
Title:Genome-wide association study identifies the GLDC/IL33 locus associated with survival of osteosarcoma patients
Journal: Cancer Res 78(13, Suppl S):Abstract 2077
Date:2018 Jul
Branches:CGB, CGR, LGS, OD, TDRP
PubMed ID:not available
PMC ID: not available

Authors:Khincha PP,  Bertuch AA,  Gadalla SM,  Giri N,  Alter BP,  Savage SA
Title:Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita.
Journal: Blood Adv 2(11):1243-1249
Date:2018 Jun 12
Branches:CGB
PubMed ID:29853525
PMC ID: PMC5998921

Authors:Ungar RA,  Giri N,  Pao M,  Khincha PP,  Zhou W,  Alter BP,  Savage SA
Title:Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.
Journal: Am J Med Genet A 176(6):1432-1437
Date:2018 Jun
Branches:CGB, CGR
PubMed ID:29696773
PMC ID: PMC5992073

Authors:Ratnasamy V,  Navaneethakrishnan S,  Sirisena ND,  Grüning NM,  Brandau O,  Thirunavukarasu K,  Dagnall CL,  McReynolds LJ,  Savage SA,  Dissanayake VHW
Title:Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.
Journal: BMC Med Genet 19(1):85
Date:2018 May 25
Branches:CGB, CGR
PubMed ID:29801475
PMC ID: PMC5970516

Authors:Gadalla SM,  Aubert G,  Wang T,  Haagenson M,  Spellman SR,  Wang L,  Katki HA,  Savage SA,  Lee SJ
Title:Donor telomere length and causes of death after unrelated hematopoietic cell transplantation in patients with marrow failure.
Journal: Blood 131(21):2393-2398
Date:2018 May 24
Branches:BB, CGB
PubMed ID:29632022
PMC ID: PMC5969378

Authors:McMaster ML,  Sun C,  Landi MT,  Savage SA,  Rotunno M,  Yang XR,  Jones K,  Vogt A,  Hutchinson A,  Zhu B,  Wang M,  Hicks B,  Thirunavukarason A,  Stewart DR,  Koutros S,  Goldstein AM,  Chanock SJ,  Caporaso NE,  Tucker MA,  Goldin LR,  Liu Y
Title:Germline mutations in Protection of Telomeres 1 in two families with Hodgkin lymphoma.
Journal: Br J Haematol 181(3):372-377
Date:2018 May
Branches:BB, CGB, CGR, ITEB, LGS, OD, OEEB, TDRP
PubMed ID:29693246
PMC ID: PMC5921926

Authors:Savage SA
Title:Beginning at the ends: telomeres and human disease.
Journal: F1000Res 7
Date:2018
Branches:CGB, OD
PubMed ID:29770205
PMC ID: PMC5931273

Authors:Koster R,  Panagiotou OA,  Wheeler WA,  Karlins E,  Gastier-Foster JM,  Caminada de Toledo SR,  Petrilli AS,  Flanagan AM,  Tirabosco R,  Andrulis IL,  Wunder JS,  Gokgoz N,  Patiño-Garcia A,  Lecanda F,  Serra M,  Hattinger C,  Picci P,  Scotlandi K,  Thomas DM,  Ballinger ML,  Gorlick R,  Barkauskas DA,  Spector LG,  Tucker M,  Belynda DH,  Yeager M,  Hoover RN,  Wacholder S,  Chanock SJ,  Savage SA,  Mirabello L
Title:Genome-wide association study identifies the GLDC/IL33 locus associated with survival of osteosarcoma patients.
Journal: Int J Cancer 142(8):1594-1601
Date:2018 Apr 15
Branches:BB, CGB, CGR, LGS, OD, TDRP
PubMed ID:29210060
PMC ID: PMC5814322

Authors:Gadalla SM,  Wang T,  Loftus D,  Friedman L,  Dagnall C,  Haagenson M,  Spellman SR,  Buturovic L,  Blauwkamp M,  Shelton J,  Fleischhauer K,  Hsu KC,  Verneris MR,  Krstajic D,  Hicks B,  Jones K,  Lee SJ,  Savage SA
Title:No association between donor telomere length and outcomes after allogeneic unrelated hematopoietic cell transplant in patients with acute leukemia.
Journal: Bone Marrow Transplant 53(4):383-391
Date:2018 Apr
Branches:CGB, CGR
PubMed ID:29269807
PMC ID: PMC5898974

Authors:Ward SC,  Savage SA,  Giri N,  Alter BP,  Rosenberg PS,  Pichard DC,  Cowen EW
Title:Beyond the triad: Inheritance, mucocutaneous phenotype, and mortality in a cohort of patients with dyskeratosis congenita.
Journal: J Am Acad Dermatol 78(4):804-806
Date:2018 Apr
Branches:BB, CGB
PubMed ID:29042228
PMC ID: PMC5857208

Authors:Wang Youjin,  Zhou Weiyin,  Wang Tao,  Spellman Stephen R.,  Haagenson Michael,  Yeager Meredith,  Alter Blanche P.,  Lee Stephanie J.,  Savage Sharon A.,  Gadalla Shahinaz M.
Title:Clonal Alterations and Survival after Unrelated Donor Allogeneic Hematopoietic Stem Cell Transplant in Patients with Fanconi Anemia
Journal: Biol Blood Marrow Transplant 24(3, Suppl 1):S100-S101, Abstract 110
Date:2018 Mar
Branches:CGB, CGR
PubMed ID:not available
PMC ID: not available

Authors:Alter BP,  Giri N,  Savage SA,  Rosenberg PS
Title:Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.
Journal: Haematologica 103(1):30-39
Date:2018 Jan
Branches:BB, CGB
PubMed ID:29051281
PMC ID: PMC5777188

Authors:Giri N,  Reed HD,  Stratton P,  Savage SA,  Alter BP
Title:Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes.
Journal: Pediatr Blood Cancer 65(1)
Date:2018 Jan
Branches:CGB
PubMed ID:28801981
PMC ID: PMC7408308

Authors:McReynolds LJ,  Savage SA
Title:Pediatric leukemia susceptibility disorders: manifestations and management.
Journal: Hematology Am Soc Hematol Educ Program 2017(1):242-250
Date:2017 Dec 8
Branches:CGB
PubMed ID:29222262
PMC ID: PMC6142612

Authors:Gadalla Shahinaz M.,  Zhou Weiyin,  Wang Tao,  Zaimoku Yoshitaka,  Nakao Shinji,  Burdette Laurie,  Willis Amanda,  Askar Medhat,  Haagenson Michael,  Yeager Meredith,  Wang Youjin,  Spellman Stephen R.,  Chanock Stephen J.,  Lee Stephanie J.,  Savage Sharon A.
Title:Chromosome 6 Loss-of-Heterozygosity in Pre-Transplant Blood Samples of Patients with Severe Aplastic Anemia Is Associated with Lower Risk of Acute Graft- Versus -Host Disease
Journal: Blood 130(Suppl 1):Abstract 4479
Date:2017 Dec 7
Branches:CGB, CGR, LGS, OD
PubMed ID:not available
PMC ID: not available

Authors:Ballinger ML,  Best A,  Mai PL,  Khincha PP,  Loud JT,  Peters JA,  Achatz MI,  Chojniak R,  Balieiro da Costa A,  Santiago KM,  Garber J,  O'Neill AF,  Eeles RA,  Evans DG,  Bleiker E,  Sonke GS,  Ruijs M,  Loo C,  Schiffman J,  Naumer A,  Kohlmann W,  Strong LC,  Bojadzieva J,  Malkin D,  Rednam SP,  Stoffel EM,  Koeppe E,  Weitzel JN,  Slavin TP,  Nehoray B,  Robson M,  Walsh M,  Manelli L,  Villani A,  Thomas DM,  Savage SA
Title:Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis.
Journal: JAMA Oncol 3(12):1634-1639
Date:2017 Dec 1
Branches:BB, CGB, ITEB
PubMed ID:28772291
PMC ID: PMC5824277

Authors:De Andrade KC,  Mirabello L,  Stewart DR,  Karlins E,  Koster R,  Wang M,  Gapstur SM,  Gaudet MM,  Freedman ND,  Landi MT,  Lemonnier N,  Hainaut P,  Savage SA,  Achatz MI
Title:Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history.
Journal: Hum Mutat 38(12):1723-1730
Date:2017 Dec
Branches:CGB, CGR, ITEB, LGS, MEB
PubMed ID:28861920
PMC ID: PMC6858060

Authors:Mai PL,  Khincha PP,  Loud JT,  DeCastro RM,  Bremer RC,  Peters JA,  Liu CY,  Bluemke DA,  Malayeri AA,  Savage SA
Title:Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort.
Journal: JAMA Oncol 3(12):1640-1645
Date:2017 Dec 1
Branches:CGB
PubMed ID:28772286
PMC ID: PMC5824271

Authors:Ward SC,  Savage SA,  Giri N,  Alter BP,  Cowen EW
Title:Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure.
Journal: J Am Acad Dermatol 77(6):1194-1198
Date:2017 Dec
Branches:CGB
PubMed ID:29033247
PMC ID: PMC5685909

Authors:Machiela MJ,  Hofmann JN,  Carreras-Torres R,  Brown KM,  Johansson M,  Wang Z,  Foll M,  Li P,  Rothman N,  Savage SA,  Gaborieau V,  McKay JD,  Ye Y,  Henrion M,  Bruinsma F,  Jordan S,  Severi G,  Hveem K,  Vatten LJ,  Fletcher T,  Koppova K,  Larsson SC,  Wolk A,  Banks RE,  Selby PJ,  Easton DF,  Pharoah P,  Andreotti G,  Freeman LEB,  Koutros S,  Albanes D,  Mannisto S,  Weinstein S,  Clark PE,  Edwards TE,  Lipworth L,  Gapstur SM,  Stevens VL,  Carol H,  Freedman ML,  Pomerantz MM,  Cho E,  Kraft P,  Preston MA,  Wilson KM,  Gaziano JM,  Sesso HS,  Black A,  Freedman ND,  Huang WY,  Anema JG,  Kahnoski RJ,  Lane BR,  Noyes SL,  Petillo D,  Colli LM,  Sampson JN,  Besse C,  Blanche H,  Boland A,  Burdette L,  Prokhortchouk E,  Skryabin KG,  Yeager M,  Mijuskovic M,  Ognjanovic M,  Foretova L,  Holcatova I,  Janout V,  Mates D,  Mukeriya A,  Rascu S,  Zaridze D,  Bencko V,  Cybulski C,  Fabianova E,  Jinga V,  Lissowska J,  Lubinski J,  Navratilova M,  Rudnai P,  Szeszenia-Dabrowska N,  Benhamou S,  Cancel-Tassin G,  Cussenot O,  Bueno-de-Mesquita HB,  Canzian F,  Duell EJ,  Ljungberg B,  Sitaram RT,  Peters U,  White E,  Anderson GL,  Johnson L,  Luo J,  Buring J,  Lee IM,  Chow WH,  Moore LE,  Wood C,  Eisen T,  Larkin J,  Choueiri TK,  Lathrop GM,  Teh BT,  Deleuze JF,  Wu X,  Houlston RS,  Brennan P,  Chanock SJ,  Scelo G,  Purdue MP
Title:Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma.
Journal: Eur Urol 72(5):747-754
Date:2017 Nov
Branches:BB, CGB, CGR, ITEB, LGS, LTG, MEB, OD, OEEB
PubMed ID:28797570
PMC ID: PMC5641242

Authors:Giri N,  Stratton P,  Savage SA,  Alter BP
Title:Pregnancies in patients with inherited bone marrow failure syndromes in the NCI cohort.
Journal: Blood 130(14):1674-1676
Date:2017 Oct 5
Branches:CGB
PubMed ID:28838890
PMC ID: PMC5630015

Authors:Dagnall CL,  Hicks B,  Teshome K,  Hutchinson AA,  Gadalla SM,  Khincha PP,  Yeager M,  Savage SA
Title:Effect of pre-analytic variables on the reproducibility of qPCR relative telomere length measurement.
Journal: PLoS One 12(9):e0184098
Date:2017
Branches:CGB, CGR
PubMed ID:28886139
PMC ID: PMC5590866

Authors:Dietz AC,  Savage SA,  Vlachos A,  Mehta PA,  Bresters D,  Tolar J,  Bonfim C,  Dalle JH,  de la Fuente J,  Skinner R,  Boulad F,  Duncan CN,  Baker KS,  Pulsipher MA,  Lipton JM,  Wagner JE,  Alter BP
Title:Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects After Pediatric HCT.
Journal: Biol Blood Marrow Transplant 23(9):1422-1428
Date:2017 Sep
Branches:CGB
PubMed ID:28533057
PMC ID: PMC5565711

Authors:Savage SA,  Mirabello L
Title:Bone cancer: Is the osteosarcoma genome targetable?
Journal: Nat Rev Endocrinol 13(9):506-508
Date:2017 Sep
Branches:CGB
PubMed ID:28776583
PMC ID: not available

Authors:Shankar RK,  Giri N,  Lodish MB,  Sinaii N,  Reynolds JC,  Savage SA,  Stratakis CA,  Alter BP
Title:Bone mineral density in patients with inherited bone marrow failure syndromes.
Journal: Pediatr Res 82(3):458-464
Date:2017 Sep
Branches:CGB
PubMed ID:28486441
PMC ID: PMC5570650

Authors:Khincha PP,  Dagnall CL,  Hicks B,  Jones K,  Aviv A,  Kimura M,  Katki H,  Aubert G,  Giri N,  Alter BP,  Savage SA,  Gadalla SM
Title:Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives.
Journal: Int J Mol Sci 18(8)
Date:2017 Aug 13
Branches:BB, CGB, CGR
PubMed ID:28805708
PMC ID: PMC5578154

Authors:Gianferante DM,  Mirabello L,  Savage SA
Title:Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy.
Journal: Nat Rev Endocrinol 13(8):480-491
Date:2017 Aug
Branches:CGB
PubMed ID:28338660
PMC ID: not available

Authors:Wang Y,  Wang T,  Dagnall C,  Haagenson M,  Spellman SR,  Hicks B,  Jones K,  Lee SJ,  Savage SA,  Gadalla SM
Title:Relative Telomere Length before Hematopoietic Cell Transplantation and Outcome after Unrelated Donor Hematopoietic Cell Transplantation for Acute Leukemia.
Journal: Biol Blood Marrow Transplant 23(7):1054-1058
Date:2017 Jul
Branches:CGB, CGR
PubMed ID:28389255
PMC ID: PMC5657243

Authors:Kratz CP,  Achatz MI,  Brugières L,  Frebourg T,  Garber JE,  Greer MC,  Hansford JR,  Janeway KA,  Kohlmann WK,  McGee R,  Mullighan CG,  Onel K,  Pajtler KW,  Pfister SM,  Savage SA,  Schiffman JD,  Schneider KA,  Strong LC,  Evans DGR,  Wasserman JD,  Villani A,  Malkin D
Title:Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.
Journal: Clin Cancer Res 23(11):e38-e45
Date:2017 Jun 1
Branches:CGB, ITEB
PubMed ID:28572266
PMC ID: not available

Authors:Mirabello L,  Khincha PP,  Ellis SR,  Giri N,  Brodie S,  Chandrasekharappa SC,  Donovan FX,  Zhou W,  Hicks BD,  Boland JF,  Yeager M,  Jones K,  Zhu B,  Wang M,  Alter BP,  Savage SA
Title:Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
Journal: J Med Genet 54(6):417-425
Date:2017 Jun
Branches:BB, CGB, CGR
PubMed ID:28280134
PMC ID: not available

Authors:Peng G,  Bojadzieva J,  Ballinger ML,  Li J,  Blackford AL,  Mai PL,  Savage SA,  Thomas DM,  Strong LC,  Wang W
Title:Estimating TP53 Mutation Carrier Probability in Families with Li-Fraumeni Syndrome Using LFSPRO.
Journal: Cancer Epidemiol Biomarkers Prev 26(6):837-844
Date:2017 Jun
Branches:CGB
PubMed ID:28137790
PMC ID: PMC5457344

Authors:Walsh MF,  Chang VY,  Kohlmann WK,  Scott HS,  Cunniff C,  Bourdeaut F,  Molenaar JJ,  Porter CC,  Sandlund JT,  Plon SE,  Wang LL,  Savage SA
Title:Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
Journal: Clin Cancer Res 23(11):e23-e31
Date:2017 Jun 1
Branches:CGB
PubMed ID:28572264
PMC ID: PMC5697784

Authors:Dietz AC,  Mehta PA,  Vlachos A,  Savage SA,  Bresters D,  Tolar J,  Boulad F,  Dalle JH,  Bonfim C,  de la Fuente J,  Duncan CN,  Baker KS,  Pulsipher MA,  Lipton JM,  Wagner JE,  Alter BP
Title:Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation.
Journal: Biol Blood Marrow Transplant 23(5):726-735
Date:2017 May
Branches:CGB
PubMed ID:28115275
PMC ID: PMC5423755

Authors:Ward SC,  Savage SA,  Giri NK,  Alter BP,  Pichard DC,  Cowen EW
Title:TINF2 mutations are associated with severe mucocutaneous disease in dyskeratosis congenita
Journal: J Invest Dermatol 137(5):S34, Abstract 202
Date:2017 May
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:Wegman-Ostrosky T,  Savage SA
Title:The genomics of inherited bone marrow failure: from mechanism to the clinic.
Journal: Br J Haematol 177(4):526-542
Date:2017 May
Branches:CGB
PubMed ID:28211564
PMC ID: not available

Authors:Savage SA,  Dufour C
Title:Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia.
Journal: Semin Hematol 54(2):105-114
Date:2017 Apr
Branches:CGB
PubMed ID:28637614
PMC ID: not available

Authors:Steenstrup T,  Kark JD,  Verhulst S,  Thinggaard M,  Hjelmborg JVB,  DalgÃ¥rd C,  Kyvik KO,  Christiansen L,  Mangino M,  Spector TD,  Petersen I,  Kimura M,  Benetos A,  Labat C,  Sinnreich R,  Hwang SJ,  Levy D,  Hunt SC,  Fitzpatrick AL,  Chen W,  Berenson GS,  Barbieri M,  Paolisso G,  Gadalla SM,  Savage SA,  Christensen K,  Yashin AI,  Arbeev KG,  Aviv A
Title:Telomeres and the natural lifespan limit in humans.
Journal: Aging (Albany NY) 9(4):1130-1142
Date:2017 Apr
Branches:CGB
PubMed ID:28394764
PMC ID: PMC5425118

Authors:Leroy B,  Ballinger ML,  Baran-Marszak F,  Bond GL,  Braithwaite A,  Concin N,  Donehower LA,  El-Deiry WS,  Fenaux P,  Gaidano G,  Langerød A,  Hellstrom-Lindberg E,  Iggo R,  Lehmann-Che J,  Mai PL,  Malkin D,  Moll UM,  Myers JN,  Nichols KE,  Pospisilova S,  Ashton-Prolla P,  Rossi D,  Savage SA,  Strong LC,  Tonin PN,  Zeillinger R,  Zenz T,  Fraumeni JF Jr,  Taschner PE,  Hainaut P,  Soussi T
Title:Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.
Journal: Cancer Res 77(6):1250-1260
Date:2017 Mar 15
Branches:CGB, OD
PubMed ID:28254861
PMC ID: PMC7457206

Authors:Khincha PP,  Bertuch AA,  Agarwal S,  Townsley DM,  Young NS,  Keel S,  Shimamura A,  Boulad F,  Simoneau T,  Justino H,  Kuo C,  Artandi S,  McCaslin C,  Cox DW,  Chaffee S,  Collins BF,  Giri N,  Alter BP,  Raghu G,  Savage SA
Title:Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders.
Journal: Eur Respir J 49(1)
Date:2017 Jan
Branches:CGB
PubMed ID:27824607
PMC ID: PMC5841586

Authors:Wang PY,  Li J,  Walcott FL,  Kang JG,  Starost MF,  Talagala SL,  Zhuang J,  Park JH,  Huffstutler RD,  Bryla CM,  Mai PL,  Pollak M,  Annunziata CM,  Savage SA,  Fojo AT,  Hwang PM
Title:Inhibiting mitochondrial respiration prevents cancer in a mouse model of Li-Fraumeni syndrome.
Journal: J Clin Invest 127(1):132-136
Date:2017 Jan 3
Branches:CGB
PubMed ID:27869650
PMC ID: PMC5199691

Authors:Gadalla SM,  Wang T,  Dagnall C,  Haagenson M,  Spellman SR,  Hicks B,  Jones K,  Katki HA,  Lee SJ,  Savage SA
Title:Effect of Recipient Age and Stem Cell Source on the Association between Donor Telomere Length and Survival after Allogeneic Unrelated Hematopoietic Cell Transplantation for Severe Aplastic Anemia.
Journal: Biol Blood Marrow Transplant 22(12):2276-2282
Date:2016 Dec
Branches:BB, CGB, CGR
PubMed ID:27641680
PMC ID: PMC5116252

Authors:Loud JT,  Bremer RC,  Mai PL,  Peters JA,  Giri N,  Stewart DR,  Greene MH,  Alter BP,  Savage SA
Title:Research participant interest in primary, secondary, and incidental genomic findings.
Journal: Genet Med 18(12):1218-1225
Date:2016 Dec
Branches:CGB
PubMed ID:27101135
PMC ID: PMC5074919

Authors:Mai PL,  Best AF,  Peters JA,  DeCastro RM,  Khincha PP,  Loud JT,  Bremer RC,  Rosenberg PS,  Savage SA
Title:Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort.
Journal: Cancer 122(23):3673-3681
Date:2016 Dec 1
Branches:BB, CGB
PubMed ID:27496084
PMC ID: PMC5115949

Authors:Xu J,  Khincha PP,  Giri N,  Alter BP,  Savage SA,  Wong JM
Title:Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.
Journal: Am J Hematol 91(12):1215-1220
Date:2016 Dec
Branches:CGB
PubMed ID:27570172
PMC ID: PMC7466628

Authors:Liu JJ,  Cahoon EK,  Linet MS,  Little MP,  Dagnall CL,  Higson H,  Savage SA,  Freedman DM
Title:Relationship between plasma 25-hydroxyvitamin D and leucocyte telomere length by sex and race in a US study.
Journal: Br J Nutr 116(6):953-60
Date:2016 Sep
Branches:CGB, CGR, REB
PubMed ID:27515444
PMC ID: not available

Authors:Machiela MJ,  Zhou W,  Karlins E,  Sampson JN,  Freedman ND,  Yang Q,  Hicks B,  Dagnall C,  Hautman C,  Jacobs KB,  Abnet CC,  Aldrich MC,  Amos C,  Amundadottir LT,  Arslan AA,  Beane-Freeman LE,  Berndt SI,  Black A,  Blot WJ,  Bock CH,  Bracci PM,  Brinton LA,  Bueno-de-Mesquita HB,  Burdett L,  Buring JE,  Butler MA,  Canzian F,  Carreón T,  Chaffee KG,  Chang IS,  Chatterjee N,  Chen C,  Chen C,  Chen K,  Chung CC,  Cook LS,  Crous Bou M,  Cullen M,  Davis FG,  De Vivo I,  Ding T,  Doherty J,  Duell EJ,  Epstein CG,  Fan JH,  Figueroa JD,  Fraumeni JF,  Friedenreich CM,  Fuchs CS,  Gallinger S,  Gao YT,  Gapstur SM,  Garcia-Closas M,  Gaudet MM,  Gaziano JM,  Giles GG,  Gillanders EM,  Giovannucci EL,  Goldin L,  Goldstein AM,  Haiman CA,  Hallmans G,  Hankinson SE,  Harris CC,  Henriksson R,  Holly EA,  Hong YC,  Hoover RN,  Hsiung CA,  Hu N,  Hu W,  Hunter DJ,  Hutchinson A,  Jenab M,  Johansen C,  Khaw KT,  Kim HN,  Kim YH,  Kim YT,  Klein AP,  Klein R,  Koh WP,  Kolonel LN,  Kooperberg C,  Kraft P,  Krogh V,  Kurtz RC,  LaCroix A,  Lan Q,  Landi MT,  Marchand LL,  Li D,  Liang X,  Liao LM,  Lin D,  Liu J,  Lissowska J,  Lu L,  Magliocco AM,  Malats N,  Matsuo K,  McNeill LH,  McWilliams RR,  Melin BS,  Mirabello L,  Moore L,  Olson SH,  Orlow I,  Park JY,  Patiño-Garcia A,  Peplonska B,  Peters U,  Petersen GM,  Pooler L,  Prescott J,  Prokunina-Olsson L,  Purdue MP,  Qiao YL,  Rajaraman P,  Real FX,  Riboli E,  Risch HA,  Rodriguez-Santiago B,  Ruder AM,  Savage SA,  Schumacher F,  Schwartz AG,  Schwartz KL,  Seow A,  Wendy Setiawan V,  Severi G,  Shen H,  Sheng X,  Shin MH,  Shu XO,  Silverman DT,  Spitz MR,  Stevens VL,  Stolzenberg-Solomon R,  Stram D,  Tang ZZ,  Taylor PR,  Teras LR,  Tobias GS,  Van Den Berg D,  Visvanathan K,  Wacholder S,  Wang JC,  Wang Z,  Wentzensen N,  Wheeler W,  White E,  Wiencke JK,  Wolpin BM,  Wong MP,  Wu C,  Wu T,  Wu X,  Wu YL,  Wunder JS,  Xia L,  Yang HP,  Yang PC,  Yu K,  Zanetti KA,  Zeleniuch-Jacquotte A,  Zheng W,  Zhou B,  Ziegler RG,  Perez-Jurado LA,  Caporaso NE,  Rothman N,  Tucker M,  Dean MC,  Yeager M,  Chanock SJ
Title:Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.
Journal: Nat Commun 7:11843
Date:2016 Jun 13
Branches:BB, CGB, CGR, ITEB, LGS, LTG, MEB, OD, OEEB, REB, TDRP
PubMed ID:27291797
PMC ID: PMC4909985

Authors:Peters JA,  Kenen R,  Bremer R,  Givens S,  Savage SA,  Mai PL
Title:Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome.
Journal: J Genet Couns 25(3):529-42
Date:2016 Jun
Branches:CGB
PubMed ID:26621765
PMC ID: not available

Authors:Jones M,  Bisht K,  Savage SA,  Nandakumar J,  Keegan CE,  Maillard I
Title:The shelterin complex and hematopoiesis.
Journal: J Clin Invest 126(5):1621-9
Date:2016 May 2
Branches:CGB
PubMed ID:27135879
PMC ID: PMC4855927

Authors:Hingorani P,  Janeway K,  Crompton BD,  Kadoch C,  Mackall CL,  Khan J,  Shern JF,  Schiffman J,  Mirabello L,  Savage SA,  Ladanyi M,  Meltzer P,  Bult CJ,  Adamson PC,  Lupo PJ,  Mody R,  DuBois SG,  Parsons DW,  Khanna C,  Lau C,  Hawkins DS,  Randall RL,  Smith M,  Sorensen PH,  Plon SE,  Skapek SX,  Lessnick S,  Gorlick R,  Reed DR
Title:Current state of pediatric sarcoma biology and opportunities for future discovery: A report from the sarcoma translational research workshop.
Journal: Cancer Genet 209(5):182-94
Date:2016 May
Branches:CGB
PubMed ID:27132463
PMC ID: PMC5497490

Authors:Gadalla SM,  Khincha PP,  Katki HA,  Giri N,  Wong JY,  Spellman S,  Yanovski JA,  Han JC,  De Vivo I,  Alter BP,  Savage SA
Title:The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita.
Journal: Mol Genet Genomic Med 4(4):475-9
Date:2016 Jul
Branches:BB, CGB, OD, OEEB
PubMed ID:27468421
PMC ID: PMC4947866

Authors:Burris AM,  Ballew BJ,  Kentosh JB,  Turner CE,  Norton SA,  NCI DCEG Cancer Genomics Research Laboratory,  NCI DCEG Cancer Sequencing Working Group,  Giri N,  Alter BP,  Nellan A,  Gamper C,  Hartman KR,  Savage SA
Title:Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.
Journal: Pediatr Neurol 56:62-68.e1
Date:2016 Mar
Branches:CGB, CGR, ITEB, IIB, LGS, OD, REB, TDRP
PubMed ID:26810774
PMC ID: PMC4789174

Authors:Gadalla S,  Wang T,  Dagnall C,  Haagenson M,  Spellman S,  Hicks B,  Jones K,  Katki H,  Lee S,  Savage S
Title:Donor Telomere Length and Post-HCT Survival in SAA Patients by Age: Preliminary Results
Journal: Bone Marrow Transpl 51(1):S493, Abstract P707
Date:2016 Mar
Branches:BB, CGB, CGR
PubMed ID:not available
PMC ID: not available

Authors:Khincha PP,  Savage SA
Title:Neonatal manifestations of inherited bone marrow failure syndromes.
Journal: Semin Fetal Neonatal Med 21(1):57-65
Date:2016 Feb
Branches:CGB
PubMed ID:26724991
PMC ID: PMC4747853

Authors:Savage SA,  Ballew BJ,  Giri N,  NCI DCEG Cancer Genomics Research Laboratory,  Chandrasekharappa SC,  Ameziane N,  de Winter J,  Alter BP,  NCI DCEG Cancer Sequencing Working Group
Title:Novel FANCI mutations in Fanconi anemia with VACTERL association.
Journal: Am J Med Genet A 170A(2):386-391
Date:2016 Feb
Branches:CGB
PubMed ID:26590883
PMC ID: PMC7158112

Authors:Savage Sharon A,  Ballew Bari J,  Giri Neelam,  NCI DCEG Cancer Genomics Research Laboratory,  Chandrasekharappa SC,  Ameziane Najim,  de Winter Johan,  Alter Blanche P,  NCI DCEG Cancer Sequencing Working Group
Title:Novel FANCI mutations in Fanconi anemia with VACTERL association.
Journal: Blood 126(23)
Date:2015 Dec 3
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:Sampson JN,  Wheeler WA,  Yeager M,  Panagiotou O,  Wang Z,  Berndt SI,  Lan Q,  Abnet CC,  Amundadottir LT,  Figueroa JD,  Landi MT,  Mirabello L,  Savage SA,  Taylor PR,  De Vivo I,  McGlynn KA,  Purdue MP,  Rajaraman P,  Adami HO,  Ahlbom A,  Albanes D,  Amary MF,  An SJ,  Andersson U,  Andriole G Jr,  Andrulis IL,  Angelucci E,  Ansell SM,  Arici C,  Armstrong BK,  Arslan AA,  Austin MA,  Baris D,  Barkauskas DA,  Bassig BA,  Becker N,  Benavente Y,  Benhamou S,  Berg C,  Van Den Berg D,  Bernstein L,  Bertrand KA,  Birmann BM,  Black A,  Boeing H,  Boffetta P,  Boutron-Ruault MC,  Bracci PM,  Brinton L,  Brooks-Wilson AR,  Bueno-de-Mesquita HB,  Burdett L,  Buring J,  Butler MA,  Cai Q,  Cancel-Tassin G,  Canzian F,  Carrato A,  Carreon T,  Carta A,  Chan JK,  Chang ET,  Chang GC,  Chang IS,  Chang J,  Chang-Claude J,  Chen CJ,  Chen CY,  Chen C,  Chen CH,  Chen C,  Chen H,  Chen K,  Chen KY,  Chen KC,  Chen Y,  Chen YH,  Chen YS,  Chen YM,  Chien LH,  Chirlaque MD,  Choi JE,  Choi YY,  Chow WH,  Chung CC,  Clavel J,  Clavel-Chapelon F,  Cocco P,  Colt JS,  Comperat E,  Conde L,  Connors JM,  Conti D,  Cortessis VK,  Cotterchio M,  Cozen W,  Crouch S,  Crous-Bou M,  Cussenot O,  Davis FG,  Ding T,  Diver WR,  Dorronsoro M,  Dossus L,  Duell EJ,  Ennas MG,  Erickson RL,  Feychting M,  Flanagan AM,  Foretova L,  Fraumeni JF Jr,  Freedman ND,  Beane Freeman LE,  Fuchs C,  Gago-Dominguez M,  Gallinger S,  Gao YT,  Gapstur SM,  Garcia-Closas M,  García-Closas R,  Gascoyne RD,  Gastier-Foster J,  Gaudet MM,  Gaziano JM,  Giffen C,  Giles GG,  Giovannucci E,  Glimelius B,  Goggins M,  Gokgoz N,  Goldstein AM,  Gorlick R,  Gross M,  Grubb R 3rd,  Gu J,  Guan P,  Gunter M,  Guo H,  Habermann TM,  Haiman CA,  Halai D,  Hallmans G,  Hassan M,  Hattinger C,  He Q,  He X,  Helzlsouer K,  Henderson B,  Henriksson R,  Hjalgrim H,  Hoffman-Bolton J,  Hohensee C,  Holford TR,  Holly EA,  Hong YC,  Hoover RN,  Horn-Ross PL,  Hosain GM,  Hosgood HD 3rd,  Hsiao CF,  Hu N,  Hu W,  Hu Z,  Huang MS,  Huerta JM,  Hung JY,  Hutchinson A,  Inskip PD,  Jackson RD,  Jacobs EJ,  Jenab M,  Jeon HS,  Ji BT,  Jin G,  Jin L,  Johansen C,  Johnson A,  Jung YJ,  Kaaks R,  Kamineni A,  Kane E,  Kang CH,  Karagas MR,  Kelly RS,  Khaw KT,  Kim C,  Kim HN,  Kim JH,  Kim JS,  Kim YH,  Kim YT,  Kim YC,  Kitahara CM,  Klein AP,  Klein RJ,  Kogevinas M,  Kohno T,  Kolonel LN,  Kooperberg C,  Kricker A,  Krogh V,  Kunitoh H,  Kurtz RC,  Kweon SS,  LaCroix A,  Lawrence C,  Lecanda F,  Lee VH,  Li D,  Li H,  Li J,  Li YJ,  Li Y,  Liao LM,  Liebow M,  Lightfoot T,  Lim WY,  Lin CC,  Lin D,  Lindstrom S,  Linet MS,  Link BK,  Liu C,  Liu J,  Liu L,  Ljungberg B,  Lloreta J,  Di Lollo S,  Lu D,  Lund E,  Malats N,  Mannisto S,  Le Marchand L,  Marina N,  Masala G,  Mastrangelo G,  Matsuo K,  Maynadie M,  McKay J,  McKean-Cowdin R,  Melbye M,  Melin BS,  Michaud DS,  Mitsudomi T,  Monnereau A,  Montalvan R,  Moore LE,  Mortensen LM,  Nieters A,  North KE,  Novak AJ,  Oberg AL,  Offit K,  Oh IJ,  Olson SH,  Palli D,  Pao W,  Park IK,  Park JY,  Park KH,  Patiño-Garcia A,  Pavanello S,  Peeters PH,  Perng RP,  Peters U,  Petersen GM,  Picci P,  Pike MC,  Porru S,  Prescott J,  Prokunina-Olsson L,  Qian B,  Qiao YL,  Rais M,  Riboli E,  Riby J,  Risch HA,  Rizzato C,  Rodabough R,  Roman E,  Roupret M,  Ruder AM,  Sanjose Sd,  Scelo G,  Schned A,  Schumacher F,  Schwartz K,  Schwenn M,  Scotlandi K,  Seow A,  Serra C,  Serra M,  Sesso HD,  Setiawan VW,  Severi G,  Severson RK,  Shanafelt TD,  Shen H,  Shen W,  Shin MH,  Shiraishi K,  Shu XO,  Siddiq A,  Sierrasesúmaga L,  Sihoe AD,  Skibola CF,  Smith A,  Smith MT,  Southey MC,  Spinelli JJ,  Staines A,  Stampfer M,  Stern MC,  Stevens VL,  Stolzenberg-Solomon RS,  Su J,  Su WC,  Sund M,  Sung JS,  Sung SW,  Tan W,  Tang W,  Tardón A,  Thomas D,  Thompson CA,  Tinker LF,  Tirabosco R,  Tjønneland A,  Travis RC,  Trichopoulos D,  Tsai FY,  Tsai YH,  Tucker M,  Turner J,  Vajdic CM,  Vermeulen RC,  Villano DJ,  Vineis P,  Virtamo J,  Visvanathan K,  Wactawski-Wende J,  Wang C,  Wang CL,  Wang JC,  Wang J,  Wei F,  Weiderpass E,  Weiner GJ,  Weinstein S,  Wentzensen N,  White E,  Witzig TE,  Wolpin BM,  Wong MP,  Wu C,  Wu G,  Wu J,  Wu T,  Wu W,  Wu X,  Wu YL,  Wunder JS,  Xiang YB,  Xu J,  Xu P,  Yang PC,  Yang TY,  Ye Y,  Yin Z,  Yokota J,  Yoon HI,  Yu CJ,  Yu H,  Yu K,  Yuan JM,  Zelenetz A,  Zeleniuch-Jacquotte A,  Zhang XC,  Zhang Y,  Zhao X,  Zhao Z,  Zheng H,  Zheng T,  Zheng W,  Zhou B,  Zhu M,  Zucca M,  Boca SM,  Cerhan JR,  Ferri GM,  Hartge P,  Hsiung CA,  Magnani C,  Miligi L,  Morton LM,  Smedby KE,  Teras LR,  Vijai J,  Wang SS,  Brennan P,  Caporaso NE,  Hunter DJ,  Kraft P,  Rothman N,  Silverman DT,  Slager SL,  Chanock SJ,  Chatterjee N
Title:Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types.
Journal: J Natl Cancer Inst 107(12):djv279
Date:2015 Dec
Branches:BB, CGB, CGR, ITEB, LGS, LTG, MEB, OD, OEEB, REB, TDRP
PubMed ID:26464424
PMC ID: PMC4806328

Authors:Mirabello L,  Koster R,  Moriarity BS,  Spector LG,  Meltzer PS,  Gary J,  Machiela MJ,  Pankratz N,  Panagiotou OA,  Largaespada D,  Wang Z,  Gastier-Foster JM,  Gorlick R,  Khanna C,  de Toledo SR,  Petrilli AS,  Patiño-Garcia A,  Sierrasesúmaga L,  Lecanda F,  Andrulis IL,  Wunder JS,  Gokgoz N,  Serra M,  Hattinger C,  Picci P,  Scotlandi K,  Flanagan AM,  Tirabosco R,  Amary MF,  Halai D,  Ballinger ML,  Thomas DM,  Davis S,  Barkauskas DA,  Marina N,  Helman L,  Otto GM,  Becklin KL,  Wolf NK,  Weg MT,  Tucker M,  Wacholder S,  Fraumeni JF Jr,  Caporaso NE,  Boland JF,  Hicks BD,  Vogt A,  Burdett L,  Yeager M,  Hoover RN,  Chanock SJ,  Savage SA
Title:A Genome-Wide Scan Identifies Variants in NFIB Associated with Metastasis in Patients with Osteosarcoma.
Journal: Cancer Discov 5(9):920-31
Date:2015 Sep
Branches:BB, CGB, CGR, ITEB, LGS, OD, TDRP
PubMed ID:26084801
PMC ID: PMC4560660

Authors:Fedick AM,  Shi L,  Jalas C,  Treff NR,  Ekstein J,  Kornreich R,  Edelmann L,  Mehta L,  Savage SA
Title:Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
Journal: Clin Genet 88(2):177-81
Date:2015 Aug
Branches:CGB
PubMed ID:25047097
PMC ID: not available

Authors:Giri N,  Alter BP,  Penrose K,  Falk RT,  Pan Y,  Savage SA,  Williams M,  Kemp TJ,  Pinto LA
Title:Immune status of patients with inherited bone marrow failure syndromes.
Journal: Am J Hematol 90(8):702-8
Date:2015 Aug
Branches:CGB, MEB, IIB
PubMed ID:25963299
PMC ID: PMC4509864

Authors:Glousker G,  Touzot F,  Revy P,  Tzfati Y,  Savage SA
Title:Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.
Journal: Br J Haematol 170(4):457-71
Date:2015 Aug
Branches:CGB
PubMed ID:25940403
PMC ID: PMC4526362

Authors:Mirabello Lisa J,  Yeager Meredith,  Mai Phuong L,  Gastier-Foster Julie,  Gorlick Richard,  Khanna Chand,  Patino-Garcia Ana,  Sierrasesumaga Luis,  Lecanda Fernando,  Andrulis Irene L,  Wunder Jay S,  Gokgoz Nalan,  Barkauskas Donald A,  Zhang Xijun,  Vogt Aurelie,  Jones Kristine,  Boland Joseph F,  Chanock Stephen J,  Savage Sharon A
Title:High prevalence of germline TP53 mutations in young osteosarcoma cases
Journal: Cancer Res 75(Suppl 15):Abstract 5574
Date:2015 Aug 1
Branches:CGB, CGR, ITEB, LGS, OD
PubMed ID:not available
PMC ID: not available

Authors:Andreotti G,  Hoppin JA,  Hou L,  Koutros S,  Gadalla SM,  Savage SA,  Lubin J,  Blair A,  Hoxha M,  Baccarelli A,  Sandler D,  Alavanja M,  Beane Freeman LE
Title:Pesticide Use and Relative Leukocyte Telomere Length in the Agricultural Health Study.
Journal: PLoS One 10(7):e0133382
Date:2015
Branches:BB, CGB, ITEB, OEEB
PubMed ID:26196902
PMC ID: PMC4510132

Authors:Pathak A,  Pemov A,  McMaster ML,  Dewan R,  Ravichandran S,  Pak E,  Dutra A,  Lee HJ,  Vogt A,  Zhang X,  Yeager M,  Anderson S,  Kirby M,  NCI DCEG Cancer Genomics Research Laboratory,  NCI DCEG Cancer Sequencing Working Group,  Caporaso N,  Greene MH,  Goldin LR,  Stewart DR
Title:Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.
Journal: Hum Genet 134(7):775-87
Date:2015 Jul
Branches:CGB, CGR, IIB, ITEB, LGS, MEB, OD, OEEB, REB, TDRP
PubMed ID:25939664
PMC ID: PMC6941732

Authors:Mirabello L,  Yeager M,  Mai PL,  Gastier-Foster JM,  Gorlick R,  Khanna C,  Patiño-Garcia A,  Sierrasesúmaga L,  Lecanda F,  Andrulis IL,  Wunder JS,  Gokgoz N,  Barkauskas DA,  Zhang X,  Vogt A,  Jones K,  Boland JF,  Chanock SJ,  Savage SA
Title:Germline TP53 variants and susceptibility to osteosarcoma.
Journal: J Natl Cancer Inst 107(7)
Date:2015 Jul
Branches:CGB, CGR, ITEB, LGS, OD
PubMed ID:25896519
PMC ID: PMC4651039

Authors:Machiela MJ,  Zhou W,  Sampson JN,  Dean MC,  Jacobs KB,  Black A,  Brinton LA,  Chang IS,  Chen C,  Chen C,  Chen K,  Cook LS,  Crous Bou M,  De Vivo I,  Doherty J,  Friedenreich CM,  Gaudet MM,  Haiman CA,  Hankinson SE,  Hartge P,  Henderson BE,  Hong YC,  Hosgood HD 3rd,  Hsiung CA,  Hu W,  Hunter DJ,  Jessop L,  Kim HN,  Kim YH,  Kim YT,  Klein R,  Kraft P,  Lan Q,  Lin D,  Liu J,  Le Marchand L,  Liang X,  Lissowska J,  Lu L,  Magliocco AM,  Matsuo K,  Olson SH,  Orlow I,  Park JY,  Pooler L,  Prescott J,  Rastogi R,  Risch HA,  Schumacher F,  Seow A,  Setiawan VW,  Shen H,  Sheng X,  Shin MH,  Shu XO,  VanDen Berg D,  Wang JC,  Wentzensen N,  Wong MP,  Wu C,  Wu T,  Wu YL,  Xia L,  Yang HP,  Yang PC,  Zheng W,  Zhou B,  Abnet CC,  Albanes D,  Aldrich MC,  Amos C,  Amundadottir LT,  Berndt SI,  Blot WJ,  Bock CH,  Bracci PM,  Burdett L,  Buring JE,  Butler MA,  Carreón T,  Chatterjee N,  Chung CC,  Cook MB,  Cullen M,  Davis FG,  Ding T,  Duell EJ,  Epstein CG,  Fan JH,  Figueroa JD,  Fraumeni JF Jr,  Freedman ND,  Fuchs CS,  Gao YT,  Gapstur SM,  Patiño-Garcia A,  Garcia-Closas M,  Gaziano JM,  Giles GG,  Gillanders EM,  Giovannucci EL,  Goldin L,  Goldstein AM,  Greene MH,  Hallmans G,  Harris CC,  Henriksson R,  Holly EA,  Hoover RN,  Hu N,  Hutchinson A,  Jenab M,  Johansen C,  Khaw KT,  Koh WP,  Kolonel LN,  Kooperberg C,  Krogh V,  Kurtz RC,  LaCroix A,  Landgren A,  Landi MT,  Li D,  Liao LM,  Malats N,  McGlynn KA,  McNeill LH,  McWilliams RR,  Melin BS,  Mirabello L,  Peplonska B,  Peters U,  Petersen GM,  Prokunina-Olsson L,  Purdue M,  Qiao YL,  Rabe KG,  Rajaraman P,  Real FX,  Riboli E,  Rodríguez-Santiago B,  Rothman N,  Ruder AM,  Savage SA,  Schwartz AG,  Schwartz KL,  Sesso HD,  Severi G,  Silverman DT,  Spitz MR,  Stevens VL,  Stolzenberg-Solomon R,  Stram D,  Tang ZZ,  Taylor PR,  Teras LR,  Tobias GS,  Viswanathan K,  Wacholder S,  Wang Z,  Weinstein SJ,  Wheeler W,  White E,  Wiencke JK,  Wolpin BM,  Wu X,  Wunder JS,  Yu K,  Zanetti KA,  Zeleniuch-Jacquotte A,  Ziegler RG,  de Andrade M,  Barnes KC,  Beaty TH,  Bierut LJ,  Desch KC,  Doheny KF,  Feenstra B,  Ginsburg D,  Heit JA,  Kang JH,  Laurie CA,  Li JZ,  Lowe WL,  Marazita ML,  Melbye M,  Mirel DB,  Murray JC,  Nelson SC,  Pasquale LR,  Rice K,  Wiggs JL,  Wise A,  Tucker M,  Pérez-Jurado LA,  Laurie CC,  Caporaso NE,  Yeager M,  Chanock SJ
Title:Characterization of large structural genetic mosaicism in human autosomes.
Journal: Am J Hum Genet 96(3):487-97
Date:2015 Mar 5
Branches:BB, CGB, CGR, ITEB, MEB, LGS, LTG, OD, OEEB, REB, TDRP
PubMed ID:25748358
PMC ID: PMC4375431

Authors:Stratton P,  Giri N,  Sklavos M M,  Alter B P,  Savage S,  Pinto L A
Title:Adult Males With Fanconi Anemia and Dyskeratosis Congenita But Not Diamond Blackfan Anemia Have Reduced Levels of Circulating Anti-Mullerian Hormone.
Journal: Reprod Sci 22(1):315a-315a
Date:2015 Mar
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:Gadalla SM,  Wang T,  Haagenson M,  Spellman SR,  Lee SJ,  Williams KM,  Wong JY,  De Vivo I,  Savage SA
Title:Association between donor leukocyte telomere length and survival after unrelated allogeneic hematopoietic cell transplantation for severe aplastic anemia.
Journal: JAMA 313(6):594-602
Date:2015 Feb 10
Branches:CGB
PubMed ID:25668263
PMC ID: PMC4388056

Authors:Kuchenbaecker KB,  Ramus SJ,  Tyrer J,  Lee A,  Shen HC,  Beesley J,  Lawrenson K,  McGuffog L,  Healey S,  Lee JM,  Spindler TJ,  Lin YG,  Pejovic T,  Bean Y,  Li Q,  Coetzee S,  Hazelett D,  Miron A,  Southey M,  Terry MB,  Goldgar DE,  Buys SS,  Janavicius R,  Dorfling CM,  van Rensburg EJ,  Neuhausen SL,  Ding YC,  Hansen TV,  Jønson L,  Gerdes AM,  Ejlertsen B,  Barrowdale D,  Dennis J,  Benitez J,  Osorio A,  Garcia MJ,  Komenaka I,  Weitzel JN,  Ganschow P,  Peterlongo P,  Bernard L,  Viel A,  Bonanni B,  Peissel B,  Manoukian S,  Radice P,  Papi L,  Ottini L,  Fostira F,  Konstantopoulou I,  Garber J,  Frost D,  Perkins J,  Platte R,  Ellis S,  EMBRACE,  Godwin AK,  Schmutzler RK,  Meindl A,  Engel C,  Sutter C,  Sinilnikova OM,  GEMO Study Collaborators,  Damiola F,  Mazoyer S,  Stoppa-Lyonnet D,  Claes K,  De Leeneer K,  Kirk J,  Rodriguez GC,  Piedmonte M,  O'Malley DM,  de la Hoya M,  Caldes T,  Aittomäki K,  Nevanlinna H,  Collée JM,  Rookus MA,  Oosterwijk JC,  Breast Cancer Family Registry,  Tihomirova L,  Tung N,  Hamann U,  Isaccs C,  Tischkowitz M,  Imyanitov EN,  Caligo MA,  Campbell IG,  Hogervorst FB,  HEBON,  Olah E,  Diez O,  Blanco I,  Brunet J,  Lazaro C,  Pujana MA,  Jakubowska A,  Gronwald J,  Lubinski J,  Sukiennicki G,  Barkardottir RB,  Plante M,  Simard J,  Soucy P,  Montagna M,  Tognazzo S,  Teixeira MR,  KConFab Investigators,  Pankratz VS,  Wang X,  Lindor N,  Szabo CI,  Kauff N,  Vijai J,  Aghajanian CA,  Pfeiler G,  Berger A,  Singer CF,  Tea MK,  Phelan CM,  Greene MH,  Mai PL,  Rennert G,  Mulligan AM,  Tchatchou S,  Andrulis IL,  Glendon G,  Toland AE,  Jensen UB,  Kruse TA,  Thomassen M,  Bojesen A,  Zidan J,  Friedman E,  Laitman Y,  Soller M,  Liljegren A,  Arver B,  Einbeigi Z,  Stenmark-Askmalm M,  Olopade OI,  Nussbaum RL,  Rebbeck TR,  Nathanson KL,  Domchek SM,  Lu KH,  Karlan BY,  Walsh C,  Lester J,  Australian Cancer Study (Ovarian Cancer Investigators),  Australian Ovarian Cancer Study Group,  Hein A,  Ekici AB,  Beckmann MW,  Fasching PA,  Lambrechts D,  Van Nieuwenhuysen E,  Vergote I,  Lambrechts S,  Dicks E,  Doherty JA,  Wicklund KG,  Rossing MA,  Rudolph A,  Chang-Claude J,  Wang-Gohrke S,  Eilber U,  Moysich KB,  Odunsi K,  Sucheston L,  Lele S,  Wilkens LR,  Goodman MT,  Thompson PJ,  Shvetsov YB,  Runnebaum IB,  Dürst M,  Hillemanns P,  Dörk T,  Antonenkova N,  Bogdanova N,  Leminen A,  Pelttari LM,  Butzow R,  Modugno F,  Kelley JL,  Edwards RP,  Ness RB,  du Bois A,  Heitz F,  Schwaab I,  Harter P,  Matsuo K,  Hosono S,  Orsulic S,  Jensen A,  Kjaer SK,  Hogdall E,  Hasmad HN,  Azmi MA,  Teo SH,  Woo YL,  Fridley BL,  Goode EL,  Cunningham JM,  Vierkant RA,  Bruinsma F,  Giles GG,  Liang D,  Hildebrandt MA,  Wu X,  Levine DA,  Bisogna M,  Berchuck A,  Iversen ES,  Schildkraut JM,  Concannon P,  Weber RP,  Cramer DW,  Terry KL,  Poole EM,  Tworoger SS,  Bandera EV,  Orlow I,  Olson SH,  Krakstad C,  Salvesen HB,  Tangen IL,  Bjorge L,  van Altena AM,  Aben KK,  Kiemeney LA,  Massuger LF,  Kellar M,  Brooks-Wilson A,  Kelemen LE,  Cook LS,  Le ND,  Cybulski C,  Yang H,  Lissowska J,  Brinton LA,  Wentzensen N,  Hogdall C,  Lundvall L,  Nedergaard L,  Baker H,  Song H,  Eccles D,  McNeish I,  Paul J,  Carty K,  Siddiqui N,  Glasspool R,  Whittemore AS,  Rothstein JH,  McGuire V,  Sieh W,  Ji BT,  Zheng W,  Shu XO,  Gao YT,  Rosen B,  Risch HA,  McLaughlin JR,  Narod SA,  Monteiro AN,  Chen A,  Lin HY,  Permuth-Wey J,  Sellers TA,  Tsai YY,  Chen Z,  Ziogas A,  Anton-Culver H,  Gentry-Maharaj A,  Menon U,  Harrington P,  Lee AW,  Wu AH,  Pearce CL,  Coetzee G,  Pike MC,  Dansonka-Mieszkowska A,  Timorek A,  Rzepecka IK,  Kupryjanczyk J,  Freedman M,  Noushmehr H,  Easton DF,  Offit K,  Couch FJ,  Gayther S,  Pharoah PP,  Antoniou AC,  Chenevix-Trench G,  Consortium of Investigators of Modifiers of BRCA1 and BRCA2
Title:Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
Journal: Nat Genet 47(2):164-71
Date:2015 Feb
Branches:CGB, ITEB, MEB, OEEB
PubMed ID:25581431
PMC ID: PMC4445140

Authors:Sklavos MM,  Stratton P,  Giri N,  Alter BP,  Savage SA,  Pinto LA
Title:Reduced serum levels of anti-Müllerian hormone in females with inherited bone marrow failure syndromes.
Journal: J Clin Endocrinol Metab 100(2):E197-203
Date:2015 Feb
Branches:CGB, IIB
PubMed ID:25405500
PMC ID: PMC4318906

Authors:Balakumaran A,  Mishra PJ,  Pawelczyk E,  Yoshizawa S,  Sworder BJ,  Cherman N,  Kuznetsov SA,  Bianco P,  Giri N,  Savage SA,  Merlino G,  Dumitriu B,  Dunbar CE,  Young NS,  Alter BP,  Robey PG
Title:Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders.
Journal: Blood 125(5):793-802
Date:2015 Jan 29
Branches:CGB
PubMed ID:25499762
PMC ID: PMC4311227

Authors:Alderfer MA,  Zelley K,  Lindell RB,  Novokmet A,  Mai PL,  Garber JE,  Nathan D,  Scollon S,  Chun NM,  Patenaude AF,  Ford JM,  Plon SE,  Schiffman JD,  Diller LR,  Savage SA,  Malkin D,  Ford CA,  Nichols KE
Title:Parent decision-making around the genetic testing of children for germline TP53 mutations.
Journal: Cancer 121(2):286-93
Date:2015 Jan 15
Branches:CGB
PubMed ID:25223899
PMC ID: not available

Authors:Alter BP,  Giri N,  Savage SA,  Rosenberg PS
Title:Telomere length in inherited bone marrow failure syndromes.
Journal: Haematologica 100(1):49-54
Date:2015 Jan
Branches:BB, CGB
PubMed ID:25304614
PMC ID: PMC4281312

Authors:Hofmann JN,  Beane Freeman LE,  Lynch CF,  Andreotti G,  Thomas KW,  Sandler DP,  Savage SA,  Alavanja MC
Title:The Biomarkers of Exposure and Effect in Agriculture (BEEA) Study: Rationale, Design, Methods, and Participant Characteristics.
Journal: J Toxicol Environ Health A 78(21-22):1338-47
Date:2015
Branches:CGB, OEEB
PubMed ID:26555155
PMC ID: PMC4674328

Authors:Wang Z,  Zhu B,  Zhang M,  Parikh H,  Jia J,  Chung CC,  Sampson JN,  Hoskins JW,  Hutchinson A,  Burdette L,  Ibrahim A,  Hautman C,  Raj PS,  Abnet CC,  Adjei AA,  Ahlbom A,  Albanes D,  Allen NE,  Ambrosone CB,  Aldrich M,  Amiano P,  Amos C,  Andersson U,  Andriole G Jr,  Andrulis IL,  Arici C,  Arslan AA,  Austin MA,  Baris D,  Barkauskas DA,  Bassig BA,  Beane Freeman LE,  Berg CD,  Berndt SI,  Bertazzi PA,  Biritwum RB,  Black A,  Blot W,  Boeing H,  Boffetta P,  Bolton K,  Boutron-Ruault MC,  Bracci PM,  Brennan P,  Brinton LA,  Brotzman M,  Bueno-de-Mesquita HB,  Buring JE,  Butler MA,  Cai Q,  Cancel-Tassin G,  Canzian F,  Cao G,  Caporaso NE,  Carrato A,  Carreon T,  Carta A,  Chang GC,  Chang IS,  Chang-Claude J,  Che X,  Chen CJ,  Chen CY,  Chen CH,  Chen C,  Chen KY,  Chen YM,  Chokkalingam AP,  Chu LW,  Clavel-Chapelon F,  Colditz GA,  Colt JS,  Conti D,  Cook MB,  Cortessis VK,  Crawford ED,  Cussenot O,  Davis FG,  De Vivo I,  Deng X,  Ding T,  Dinney CP,  Di Stefano AL,  Diver WR,  Duell EJ,  Elena JW,  Fan JH,  Feigelson HS,  Feychting M,  Figueroa JD,  Flanagan AM,  Fraumeni JF Jr,  Freedman ND,  Fridley BL,  Fuchs CS,  Gago-Dominguez M,  Gallinger S,  Gao YT,  Gapstur SM,  Garcia-Closas M,  Garcia-Closas R,  Gastier-Foster JM,  Gaziano JM,  Gerhard DS,  Giffen CA,  Giles GG,  Gillanders EM,  Giovannucci EL,  Goggins M,  Gokgoz N,  Goldstein AM,  Gonzalez C,  Gorlick R,  Greene MH,  Gross M,  Grossman HB,  Grubb R 3rd,  Gu J,  Guan P,  Haiman CA,  Hallmans G,  Hankinson SE,  Harris CC,  Hartge P,  Hattinger C,  Hayes RB,  He Q,  Helman L,  Henderson BE,  Henriksson R,  Hoffman-Bolton J,  Hohensee C,  Holly EA,  Hong YC,  Hoover RN,  Hosgood HD 3rd,  Hsiao CF,  Hsing AW,  Hsiung CA,  Hu N,  Hu W,  Hu Z,  Huang MS,  Hunter DJ,  Inskip PD,  Ito H,  Jacobs EJ,  Jacobs KB,  Jenab M,  Ji BT,  Johansen C,  Johansson M,  Johnson A,  Kaaks R,  Kamat AM,  Kamineni A,  Karagas M,  Khanna C,  Khaw KT,  Kim C,  Kim IS,  Kim JH,  Kim YH,  Kim YC,  Kim YT,  Kang CH,  Jung YJ,  Kitahara CM,  Klein AP,  Klein R,  Kogevinas M,  Koh WP,  Kohno T,  Kolonel LN,  Kooperberg C,  Kratz CP,  Krogh V,  Kunitoh H,  Kurtz RC,  Kurucu N,  Lan Q,  Lathrop M,  Lau CC,  Lecanda F,  Lee KM,  Lee MP,  Le Marchand L,  Lerner SP,  Li D,  Liao LM,  Lim WY,  Lin D,  Lin J,  Lindstrom S,  Linet MS,  Lissowska J,  Liu J,  Ljungberg B,  Lloreta J,  Lu D,  Ma J,  Malats N,  Mannisto S,  Marina N,  Mastrangelo G,  Matsuo K,  McGlynn KA,  McKean-Cowdin R,  McNeill LH,  McWilliams RR,  Melin BS,  Meltzer PS,  Mensah JE,  Miao X,  Michaud DS,  Mondul AM,  Moore LE,  Muir K,  Niwa S,  Olson SH,  Orr N,  Panico S,  Park JY,  Patel AV,  Patino-Garcia A,  Pavanello S,  Peeters PH,  Peplonska B,  Peters U,  Petersen GM,  Picci P,  Pike MC,  Porru S,  Prescott J,  Pu X,  Purdue MP,  Qiao YL,  Rajaraman P,  Riboli E,  Risch HA,  Rodabough RJ,  Rothman N,  Ruder AM,  Ryu JS,  Sanson M,  Schned A,  Schumacher FR,  Schwartz AG,  Schwartz KL,  Schwenn M,  Scotlandi K,  Seow A,  Serra C,  Serra M,  Sesso HD,  Severi G,  Shen H,  Shen M,  Shete S,  Shiraishi K,  Shu XO,  Siddiq A,  Sierrasesumaga L,  Sierri S,  Loon Sihoe AD,  Silverman DT,  Simon M,  Southey MC,  Spector L,  Spitz M,  Stampfer M,  Stattin P,  Stern MC,  Stevens VL,  Stolzenberg-Solomon RZ,  Stram DO,  Strom SS,  Su WC,  Sund M,  Sung SW,  Swerdlow A,  Tan W,  Tanaka H,  Tang W,  Tang ZZ,  Tardon A,  Tay E,  Taylor PR,  Tettey Y,  Thomas DM,  Tirabosco R,  Tjonneland A,  Tobias GS,  Toro JR,  Travis RC,  Trichopoulos D,  Troisi R,  Truelove A,  Tsai YH,  Tucker MA,  Tumino R,  Van Den Berg D,  Van Den Eeden SK,  Vermeulen R,  Vineis P,  Visvanathan K,  Vogel U,  Wang C,  Wang C,  Wang J,  Wang SS,  Weiderpass E,  Weinstein SJ,  Wentzensen N,  Wheeler W,  White E,  Wiencke JK,  Wolk A,  Wolpin BM,  Wong MP,  Wrensch M,  Wu C,  Wu T,  Wu X,  Wu YL,  Wunder JS,  Xiang YB,  Xu J,  Yang HP,  Yang PC,  Yatabe Y,  Ye Y,  Yeboah ED,  Yin Z,  Ying C,  Yu CJ,  Yu K,  Yuan JM,  Zanetti KA,  Zeleniuch-Jacquotte A,  Zheng W,  Zhou B,  Mirabello L,  Savage SA,  Kraft P,  Chanock SJ,  Yeager M,  Landi MT,  Shi J,  Chatterjee N,  Amundadottir LT
Title:Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33.
Journal: Hum Mol Genet 23(24):6616-33
Date:2014 Dec 15
Branches:BB, CGB, CGR, ITEB, MEB, IIB, LGS, LTG, OD, OEEB, REB, TDRP
PubMed ID:25027329
PMC ID: PMC4240198

Authors:Mirabello L,  Chung CC,  Yeager M,  Savage SA
Title:Characterization of population-based variation and putative functional elements for the multiple-cancer susceptibility loci at 5p15.33.
Journal: F1000Res 3:231
Date:2014
Branches:CGB, CGR, OD
PubMed ID:26664699
PMC ID: PMC4654438

Authors:Kocak H,  Ballew BJ,  Bisht K,  Eggebeen R,  Hicks BD,  Suman S,  O'Neil A,  Giri N,  NCI DCEG Cancer Genomics Research Laboratory,  NCI DCEG Cancer Sequencing Working Group,  Maillard I,  Alter BP,  Keegan CE,  Nandakumar J,  Savage SA
Title:Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
Journal: Genes Dev 28(19):2090-102
Date:2014 Oct 1
Branches:CGB, CGR, ITEB, IIB, LGS, OD, REB, TDRP
PubMed ID:25233904
PMC ID: PMC4180972

Authors:Shi Jianxin,  Yang Xiaohong R,  Ballew Bari,  Rotunno Melissa,  Calista Donato,  Fargnoli Maria C,  Ghiorzo Paola,  Bressac-de Paillerets Brigitte,  Nagore Eduardo,  Hua Xing,  Hyland Paula,  Yin Jinhu,  Vallabhaneni Haritha,  Chai Weihang,  Ravichandran Sarangan,  Eggermont Alexander,  Lathrop Mark,  Peris Ketty,  Bianchi-Scarra Giovanna,  Landi Giorgio,  Savage Sharon,  Sampson Joshua,  He Ji,  Yeager Meredith,  Goldin Lynn,  Demenais Florence,  Chanock Stephen,  Tucker Margaret,  Goldstein Alisa,  Liu Yie,  Landi Maria T
Title:Exome sequencing identified POT1, a telomere shelterin gene, as a major susceptibility gene for familial cutaneous malignant melanoma
Journal: Cancer Res 74(19)
Date:2014 Oct 1
Branches:BB, CGB, CGR, ITEB, LTG, OD, TDRP
PubMed ID:not available
PMC ID: not available

Authors:Khanna C,  Fan TM,  Gorlick R,  Helman LJ,  Kleinerman ES,  Adamson PC,  Houghton PJ,  Tap WD,  Welch DR,  Steeg PS,  Merlino G,  Sorensen PH,  Meltzer P,  Kirsch DG,  Janeway KA,  Weigel B,  Randall L,  Withrow SJ,  Paoloni M,  Kaplan R,  Teicher BA,  Seibel NL,  Smith M,  Uren A,  Patel SR,  Trent J,  Savage SA,  Mirabello L,  Reinke D,  Barkaukas DA,  Krailo M,  Bernstein M
Title:Toward a drug development path that targets metastatic progression in osteosarcoma.
Journal: Clin Cancer Res 20(16):4200-9
Date:2014 Aug 15
Branches:CGB, OD
PubMed ID:24803583
PMC ID: PMC4134738

Authors:Mirabello L,  Macari ER,  Jessop L,  Ellis SR,  Myers T,  Giri N,  Taylor AM,  McGrath KE,  Humphries JM,  Ballew BJ,  Yeager M,  Boland JF,  He J,  Hicks BD,  Burdett L,  Alter BP,  Zon L,  Savage SA
Title:Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.
Journal: Blood 124(1):24-32
Date:2014 Jul 3
Branches:CGB, CGR, LGS
PubMed ID:24829207
PMC ID: PMC4125351

Authors:Stewart DR,  Pemov A,  Johnston JJ,  Sapp JC,  Yeager M,  He J,  Boland JF,  Burdett L,  Brown C,  Gatti RA,  Alter BP,  Biesecker LG,  Savage SA
Title:Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.
Journal: PLoS One 9(6):e98686
Date:2014
Branches:CGB, CGR
PubMed ID:24892279
PMC ID: PMC4043752

Authors:Saxena R,  Bjonnes A,  Prescott J,  Dib P,  Natt P,  Lane J,  Lerner M,  Cooper JA,  Ye Y,  Li KW,  Maubaret CG,  Codd V,  Brackett D,  Mirabello L,  Kraft P,  Dinney CP,  Stowell D,  Peyton M,  Ralhan S,  Wander GS,  Mehra NK,  Salpea KD,  Gu J,  Wu X,  Mangino M,  Hunter DJ,  De Vivo I,  Humphries SE,  Samani NJ,  Spector TD,  Savage SA,  Sanghera DK
Title:Genome-wide association study identifies variants in casein kinase II (CSNK2A2) to be associated with leukocyte telomere length in a Punjabi Sikh diabetic cohort.
Journal: Circ Cardiovasc Genet 7(3):287-95
Date:2014 Jun
Branches:CGB
PubMed ID:24795349
PMC ID: PMC4106467

Authors:Khincha PP,  Wentzensen IM,  Giri N,  Alter BP,  Savage SA
Title:Response to androgen therapy in patients with dyskeratosis congenita.
Journal: Br J Haematol 165(3):349-57
Date:2014 May
Branches:CGB
PubMed ID:24666134
PMC ID: PMC3984599

Authors:Shi J,  Yang XR,  Ballew B,  Rotunno M,  Calista D,  Fargnoli MC,  Ghiorzo P,  Bressac-de Paillerets B,  Nagore E,  Avril MF,  Caporaso NE,  McMaster ML,  Cullen M,  Wang Z,  Zhang X,  NCI DCEG Cancer Sequencing Working Group,  NCI DCEG Cancer Genomics Research Laboratory,  French Familial Melanoma Study Group,  Bruno W,  Pastorino L,  Queirolo P,  Banuls-Roca J,  Garcia-Casado Z,  Vaysse A,  Mohamdi H,  Riazalhosseini Y,  Foglio M,  Jouenne F,  Hua X,  Hyland PL,  Yin J,  Vallabhaneni H,  Chai W,  Minghetti P,  Pellegrini C,  Ravichandran S,  Eggermont A,  Lathrop M,  Peris K,  Scarra GB,  Landi G,  Savage SA,  Sampson JN,  He J,  Yeager M,  Goldin LR,  Demenais F,  Chanock SJ,  Tucker MA,  Goldstein AM,  Liu Y,  Landi MT
Title:Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.
Journal: Nat Genet 46(5):482-6
Date:2014 May
Branches:BB, CGB, CGR, ITEB, LTG, OD, TDRP
PubMed ID:24686846
PMC ID: PMC4056593

Authors:Alter BP,  Giri N,  Pan Y,  Savage SA,  Pinto LA
Title:Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes.
Journal: Vaccine 32(10):1169-73
Date:2014 Feb 26
Branches:CGB, IIB
PubMed ID:24295807
PMC ID: PMC3944909

Authors:Gadalla Shahinaz,  Wang Tao,  Haagenson Michael,  Spellman Stephen R,  Lee Stephanie J,  Williams Kirsten M,  Wong Jason Y,  De Vivo Immaculata,  Savage Sharon A
Title:Donor Telomere Length Predicts Recipient Survival after Allogeneic Hematopoietic Cell Transplantation in Patients with Bone Marrow Failure Syndromes.
Journal: Biol Blood Marrow Tr 20(2, Suppl 1):S33-S34, Abstract 16
Date:2014 Feb
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:Bodelon C,  Savage SA,  Gadalla SM
Title:Telomeres in molecular epidemiology studies.
Journal: Prog Mol Biol Transl Sci 125:113-31
Date:2014
Branches:CGB, MEB
PubMed ID:24993700
PMC ID: PMC6737930

Authors:Fargo JH,  Rochowski A,  Giri N,  Savage SA,  Olson SB,  Alter BP
Title:Comparison of chromosome breakage in non-mosaic and mosaic patients with Fanconi anemia, relatives, and patients with other inherited bone marrow failure syndromes.
Journal: Cytogenet Genome Res 144(1):15-27
Date:2014
Branches:CGB
PubMed ID:25227706
PMC ID: PMC4225000

Authors:Savage SA
Title:Human telomeres and telomere biology disorders.
Journal: Prog Mol Biol Transl Sci 125:41-66
Date:2014
Branches:CGB
PubMed ID:24993697
PMC ID: not available

Authors:Walcott F,  Rajaraman P,  Gadalla SM,  Inskip PD,  Purdue MP,  Albanes D,  Orr E,  De Vivo I,  Savage SA
Title:Telomere length and risk of glioma.
Journal: Cancer Epidemiol 37(6):935-8
Date:2013 Dec
Branches:CGB, MEB, OEEB, REB
PubMed ID:24231251
PMC ID: PMC3933265

Authors:Khincha PP,  Savage SA
Title:Genomic characterization of the inherited bone marrow failure syndromes.
Journal: Semin Hematol 50(4):333-47
Date:2013 Oct
Branches:CGB
PubMed ID:24246701
PMC ID: PMC3835370

Authors:Alter BP,  Giri N,  Savage SA,  Quint WG,  de Koning MN,  Schiffman M
Title:Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: a search for human papillomavirus.
Journal: Int J Cancer 133(6):1513-5
Date:2013 Sep 15
Branches:CGB
PubMed ID:23558727
PMC ID: PMC3707947

Authors:Burke LS,  Hyland PL,  Pfeiffer RM,  Prescott J,  Wheeler W,  Mirabello L,  Savage SA,  Burdette L,  Yeager M,  Chanock S,  De Vivo I,  Tucker MA,  Goldstein AM,  Yang XR
Title:Telomere length and the risk of cutaneous malignant melanoma in melanoma-prone families with and without CDKN2A mutations.
Journal: PLoS One 8(8):e71121
Date:2013
Branches:BB, CGB, CGR, ITEB, LTG, OD, TDRP
PubMed ID:23990928
PMC ID: PMC3747185

Authors:Alter BP,  Rosenberg PS,  Day T,  Menzel S,  Giri N,  Savage SA,  Thein SL
Title:Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes.
Journal: Br J Haematol 162(4):542-6
Date:2013 Aug
Branches:BB, CGB
PubMed ID:23713742
PMC ID: PMC3720816

Authors:Ballew BJ,  Joseph V,  De S,  Sarek G,  Vannier JB,  Stracker T,  Schrader KA,  Small TN,  O'Reilly R,  Manschreck C,  Harlan Fleischut MM,  Zhang L,  Sullivan J,  Stratton K,  Yeager M,  Jacobs K,  Giri N,  Alter BP,  Boland J,  Burdett L,  Offit K,  Boulton SJ,  Savage SA,  Petrini JH
Title:A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
Journal: PLoS Genet 9(8):e1003695
Date:2013 Aug
Branches:CGB, CGR
PubMed ID:24009516
PMC ID: PMC3757051

Authors:Gadalla SM,  Sales-Bonfim C,  Carreras J,  Alter BP,  Antin JH,  Ayas M,  Bodhi P,  Davis J,  Davies SM,  Deconinck E,  Deeg HJ,  Duerst RE,  Fasth A,  Ghavamzadeh A,  Giri N,  Goldman FD,  Kolb EA,  Krance R,  Kurtzberg J,  Leung WH,  Srivastava A,  Or R,  Richman CM,  Rosenberg PS,  Toledo Codina JS,  Shenoy S,  Socié G,  Tolar J,  Williams KM,  Eapen M,  Savage SA
Title:Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita.
Journal: Biol Blood Marrow Transplant 19(8):1238-43
Date:2013 Aug
Branches:BB, CGB
PubMed ID:23751955
PMC ID: PMC3736557

Authors:Hou L,  Andreotti G,  Baccarelli AA,  Savage S,  Hoppin JA,  Sandler DP,  Barker J,  Zhu ZZ,  Hoxha M,  Dioni L,  Zhang X,  Koutros S,  Freeman LE,  Alavanja MC
Title:Lifetime pesticide use and telomere shortening among male pesticide applicators in the Agricultural Health Study.
Journal: Environ Health Perspect 121(8):919-24
Date:2013 Aug
Branches:CGB, ITEB, OEEB
PubMed ID:23774483
PMC ID: PMC3734498

Authors:Savage SA,  Mirabello L,  Wang Z,  Gastier-Foster JM,  Gorlick R,  Khanna C,  Flanagan AM,  Tirabosco R,  Andrulis IL,  Wunder JS,  Gokgoz N,  Patiño-Garcia A,  Sierrasesúmaga L,  Lecanda F,  Kurucu N,  Ilhan IE,  Sari N,  Serra M,  Hattinger C,  Picci P,  Spector LG,  Barkauskas DA,  Marina N,  de Toledo SR,  Petrilli AS,  Amary MF,  Halai D,  Thomas DM,  Douglass C,  Meltzer PS,  Jacobs K,  Chung CC,  Berndt SI,  Purdue MP,  Caporaso NE,  Tucker M,  Rothman N,  Landi MT,  Silverman DT,  Kraft P,  Hunter DJ,  Malats N,  Kogevinas M,  Wacholder S,  Troisi R,  Helman L,  Fraumeni JF Jr,  Yeager M,  Hoover RN,  Chanock SJ
Title:Genome-wide association study identifies two susceptibility loci for osteosarcoma.
Journal: Nat Genet 45(7):799-803
Date:2013 Jul
Branches:BB, CGB, CGR, ITEB, LTG, OD, OEEB, TDRP
PubMed ID:23727862
PMC ID: PMC3910497

Authors:Savage SA,  Pulsipher MA,  Romano A,  Berlyne D
Title:Aplastic Anemia & MDS International Foundation (AA&MDSIF): bone marrow failure disease scientific symposium 2012.
Journal: Leuk Res 37(7):848-51
Date:2013 Jul
Branches:CGB
PubMed ID:23643149
PMC ID: not available

Authors:Ballew BJ,  Savage SA
Title:Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.
Journal: Expert Rev Hematol 6(3):327-37
Date:2013 Jun
Branches:CGB
PubMed ID:23782086
PMC ID: not available

Authors:Khincha Payal,  Mai Phuong,  Peters June,  Hoskins Lindsey,  Walcott Farzana,  Bremer Renee,  Savage Sharon
Title:Li-Fraumeni Syndrome: A Clinical, Genetic and Epidemiologic Cohort Study.
Journal: Pediatr Blood Cancer 60(Suppl 2):S71-S72
Date:2013 Jun
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:Bellodi C,  McMahon M,  Contreras A,  Juliano D,  Kopmar N,  Nakamura T,  Maltby D,  Burlingame A,  Savage SA,  Shimamura A,  Ruggero D
Title:H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation.
Journal: Cell Rep 3(5):1493-502
Date:2013 May 30
Branches:CGB
PubMed ID:23707062
PMC ID: PMC3857015

Authors:Machiela Mitchell J.,  Zhou Weiyin,  Yeager Meredith,  Jacobs Kevin,  Berndt Sonja,  Lan Qing,  Rothman Nathaniel,  Savage Sharon,  Taylor Phil R.,  deVivo Immaculata,  Hoover Robert N.,  Tucker Margaret A.,  Chanock Stephen J.
Title:Evidence for large somatic structural events detected as autosomal genetic mosaicism in GWAS data.
Journal: Cancer Res 73(8, Suppl 1):Abstract 2542
Date:2013 Apr 15
Branches:CGB, CGR, IIB, LGS, OD, OEEB, TDRP
PubMed ID:not available
PMC ID: not available

Authors:Savage Sharon A,  Mirabelio Lisa,  Wang Zhaoming,  Gastier-Foster Julie,  Gorlick Richard,  Khanna Chand,  Flanagan Adrienne M,  Tirabosco Roberto,  Andrulis Irene L,  Wunder Jay,  Gokgoz Nalan,  Patino-Garcia Ana,  Sierrasesumaga Luis,  Lecanda Fernando,  Kurucu Nilgun,  Ilhan Inci Ergurhan,  Sari Neriman,  Serra Massimo,  Hattinger Claudia,  Picci Piero,  Spector Logan,  Barkauskas Donald A,  Marina Neyssa,  de Toledo Siliva Caminada,  Petrilli Sergio,  Amary Maria Fernanda,  Halai Dina,  Thomas David,  Douglass Chester,  Meltzer Paul,  Jacobs Kevin,  Chung Charles C,  Berndt Sonja I,  Purdue Mark P,  Caporaso Neil E,  Tucker Margaret,  Rothman Nathaniel,  Landi Maria Teresa,  Silverman Debra T,  Kraft Peter,  Hunter David J,  Malats Nuria,  Kogevinas Manolis,  Wacholder Sholom,  Troisi Rebecca,  Helman Lee,  Fraumeni Joseph F, Jr,  Yeager Meredith,  Hoover Robert,  Chanock Stephen J
Title:Genome-wide association study identifies novel loci associated with osteosarcoma
Journal: Ca Res 73(8 Suppl 1):Meeting Abstract 4593
Date:2013 Apr 15
Branches:BB, CGB, CGR, IIB, ITEB, LGS, LTG, OD, OEEB, TDRP
PubMed ID:not available
PMC ID: not available

Authors:Savage SA,  Gadalla SM,  Chanock SJ
Title:The long and short of telomeres and cancer association studies.
Journal: J Natl Cancer Inst 105(7):448-9
Date:2013 Apr 3
Branches:CGB, CGR, LTG
PubMed ID:23468461
PMC ID: PMC3614507

Authors:Gu F,  Pfeiffer RM,  Bhattacharjee S,  Han SS,  Taylor PR,  Berndt S,  Yang H,  Sigurdson AJ,  Toro J,  Mirabello L,  Greene MH,  Freedman ND,  Abnet CC,  Dawsey SM,  Hu N,  Qiao YL,  Ding T,  Brenner AV,  Garcia-Closas M,  Hayes R,  Brinton LA,  Lissowska J,  Wentzensen N,  Kratz C,  Moore LE,  Ziegler RG,  Chow WH,  Savage SA,  Burdette L,  Yeager M,  Chanock SJ,  Chatterjee N,  Tucker MA,  Goldstein AM,  Yang XR
Title:Common genetic variants in the 9p21 region and their associations with multiple tumours.
Journal: Br J Cancer 108(6):1378-86
Date:2013 Apr 2
Branches:BB, CGB, CGR, ITEB, MEB, LGS, OD, OEEB, REB, TDRP
PubMed ID:23361049
PMC ID: PMC3619272

Authors:Ballew BJ,  Yeager M,  Jacobs K,  Giri N,  Boland J,  Burdett L,  Alter BP,  Savage SA
Title:Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
Journal: Hum Genet 132(4):473-80
Date:2013 Apr
Branches:CGB, CGR
PubMed ID:23329068
PMC ID: PMC3600110

Authors:Bojesen SE,  Pooley KA,  Johnatty SE,  Beesley J,  Michailidou K,  Tyrer JP,  Edwards SL,  Pickett HA,  Shen HC,  Smart CE,  Hillman KM,  Mai PL,  Lawrenson K,  Stutz MD,  Lu Y,  Karevan R,  Woods N,  Johnston RL,  French JD,  Chen X,  Weischer M,  Nielsen SF,  Maranian MJ,  Ghoussaini M,  Ahmed S,  Baynes C,  Bolla MK,  Wang Q,  Dennis J,  McGuffog L,  Barrowdale D,  Lee A,  Healey S,  Lush M,  Tessier DC,  Vincent D,  Bacot F,  Australian Cancer Study,  Australian Ovarian Cancer Study,  Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab),  Gene Environment Interaction and Breast Cancer (GENICA),  Swedish Breast Cancer Study (SWE-BRCA),  Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON),  Epidemiological study of BRCA1 & BRCA2 Mutation Carriers (EMBRACE),  Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO),  Vergote I,  Lambrechts S,  Despierre E,  Risch HA,  González-Neira A,  Rossing MA,  Pita G,  Doherty JA,  Alvarez N,  Larson MC,  Fridley BL,  Schoof N,  Chang-Claude J,  Cicek MS,  Peto J,  Kalli KR,  Broeks A,  Armasu SM,  Schmidt MK,  Braaf LM,  Winterhoff B,  Nevanlinna H,  Konecny GE,  Lambrechts D,  Rogmann L,  Guénel P,  Teoman A,  Milne RL,  Garcia JJ,  Cox A,  Shridhar V,  Burwinkel B,  Marme F,  Hein R,  Sawyer EJ,  Haiman CA,  Wang-Gohrke S,  Andrulis IL,  Moysich KB,  Hopper JL,  Odunsi K,  Lindblom A,  Giles GG,  Brenner H,  Simard J,  Lurie G,  Fasching PA,  Carney ME,  Radice P,  Wilkens LR,  Swerdlow A,  Goodman MT,  Brauch H,  Garcia-Closas M,  Hillemanns P,  Winqvist R,  Dürst M,  Devilee P,  Runnebaum I,  Jakubowska A,  Lubinski J,  Mannermaa A,  Butzow R,  Bogdanova NV,  Dörk T,  Pelttari LM,  Zheng W,  Leminen A,  Anton-Culver H,  Bunker CH,  Kristensen V,  Ness RB,  Muir K,  Edwards R,  Meindl A,  Heitz F,  Matsuo K,  du Bois A,  Wu AH,  Harter P,  Teo SH,  Schwaab I,  Shu XO,  Blot W,  Hosono S,  Kang D,  Nakanishi T,  Hartman M,  Yatabe Y,  Hamann U,  Karlan BY,  Sangrajrang S,  Kjaer SK,  Gaborieau V,  Jensen A,  Eccles D,  Høgdall E,  Shen CY,  Brown J,  Woo YL,  Shah M,  Azmi MA,  Luben R,  Omar SZ,  Czene K,  Vierkant RA,  Nordestgaard BG,  Flyger H,  Vachon C,  Olson JE,  Wang X,  Levine DA,  Rudolph A,  Weber RP,  Flesch-Janys D,  Iversen E,  Nickels S,  Schildkraut JM,  Silva Idos S,  Cramer DW,  Gibson L,  Terry KL,  Fletcher O,  Vitonis AF,  van der Schoot CE,  Poole EM,  Hogervorst FB,  Tworoger SS,  Liu J,  Bandera EV,  Li J,  Olson SH,  Humphreys K,  Orlow I,  Blomqvist C,  Rodriguez-Rodriguez L,  Aittomäki K,  Salvesen HB,  Muranen TA,  Wik E,  Brouwers B,  Krakstad C,  Wauters E,  Halle MK,  Wildiers H,  Kiemeney LA,  Mulot C,  Aben KK,  Laurent-Puig P,  Altena AM,  Truong T,  Massuger LF,  Benitez J,  Pejovic T,  Perez JI,  Hoatlin M,  Zamora MP,  Cook LS,  Balasubramanian SP,  Kelemen LE,  Schneeweiss A,  Le ND,  Sohn C,  Brooks-Wilson A,  Tomlinson I,  Kerin MJ,  Miller N,  Cybulski C,  Henderson BE,  Menkiszak J,  Schumacher F,  Wentzensen N,  Le Marchand L,  Yang HP,  Mulligan AM,  Glendon G,  Engelholm SA,  Knight JA,  Høgdall CK,  Apicella C,  Gore M,  Tsimiklis H,  Song H,  Southey MC,  Jager A,  den Ouweland AM,  Brown R,  Martens JW,  Flanagan JM,  Kriege M,  Paul J,  Margolin S,  Siddiqui N,  Severi G,  Whittemore AS,  Baglietto L,  McGuire V,  Stegmaier C,  Sieh W,  Müller H,  Arndt V,  Labrèche F,  Gao YT,  Goldberg MS,  Yang G,  Dumont M,  McLaughlin JR,  Hartmann A,  Ekici AB,  Beckmann MW,  Phelan CM,  Lux MP,  Permuth-Wey J,  Peissel B,  Sellers TA,  Ficarazzi F,  Barile M,  Ziogas A,  Ashworth A,  Gentry-Maharaj A,  Jones M,  Ramus SJ,  Orr N,  Menon U,  Pearce CL,  Brüning T,  Pike MC,  Ko YD,  Lissowska J,  Figueroa J,  Kupryjanczyk J,  Chanock SJ,  Dansonka-Mieszkowska A,  Jukkola-Vuorinen A,  Rzepecka IK,  Pylkäs K,  Bidzinski M,  Kauppila S,  Hollestelle A,  Seynaeve C,  Tollenaar RA,  Durda K,  Jaworska K,  Hartikainen JM,  Kosma VM,  Kataja V,  Antonenkova NN,  Long J,  Shrubsole M,  Deming-Halverson S,  Lophatananon A,  Siriwanarangsan P,  Stewart-Brown S,  Ditsch N,  Lichtner P,  Schmutzler RK,  Ito H,  Iwata H,  Tajima K,  Tseng CC,  Stram DO,  van den Berg D,  Yip CH,  Ikram MK,  Teh YC,  Cai H,  Lu W,  Signorello LB,  Cai Q,  Noh DY,  Yoo KY,  Miao H,  Iau PT,  Teo YY,  McKay J,  Shapiro C,  Ademuyiwa F,  Fountzilas G,  Hsiung CN,  Yu JC,  Hou MF,  Healey CS,  Luccarini C,  Peock S,  Stoppa-Lyonnet D,  Peterlongo P,  Rebbeck TR,  Piedmonte M,  Singer CF,  Friedman E,  Thomassen M,  Offit K,  Hansen TV,  Neuhausen SL,  Szabo CI,  Blanco I,  Garber J,  Narod SA,  Weitzel JN,  Montagna M,  Olah E,  Godwin AK,  Yannoukakos D,  Goldgar DE,  Caldes T,  Imyanitov EN,  Tihomirova L,  Arun BK,  Campbell I,  Mensenkamp AR,  van Asperen CJ,  van Roozendaal KE,  Meijers-Heijboer H,  Collée JM,  Oosterwijk JC,  Hooning MJ,  Rookus MA,  van der Luijt RB,  Os TA,  Evans DG,  Frost D,  Fineberg E,  Barwell J,  Walker L,  Kennedy MJ,  Platte R,  Davidson R,  Ellis SD,  Cole T,  Bressac-de Paillerets B,  Buecher B,  Damiola F,  Faivre L,  Frenay M,  Sinilnikova OM,  Caron O,  Giraud S,  Mazoyer S,  Bonadona V,  Caux-Moncoutier V,  Toloczko-Grabarek A,  Gronwald J,  Byrski T,  Spurdle AB,  Bonanni B,  Zaffaroni D,  Giannini G,  Bernard L,  Dolcetti R,  Manoukian S,  Arnold N,  Engel C,  Deissler H,  Rhiem K,  Niederacher D,  Plendl H,  Sutter C,  Wappenschmidt B,  Borg A,  Melin B,  Rantala J,  Soller M,  Nathanson KL,  Domchek SM,  Rodriguez GC,  Salani R,  Kaulich DG,  Tea MK,  Paluch SS,  Laitman Y,  Skytte AB,  Kruse TA,  Jensen UB,  Robson M,  Gerdes AM,  Ejlertsen B,  Foretova L,  Savage SA,  Lester J,  Soucy P,  Kuchenbaecker KB,  Olswold C,  Cunningham JM,  Slager S,  Pankratz VS,  Dicks E,  Lakhani SR,  Couch FJ,  Hall P,  Monteiro AN,  Gayther SA,  Pharoah PD,  Reddel RR,  Goode EL,  Greene MH,  Easton DF,  Berchuck A,  Antoniou AC,  Chenevix-Trench G,  Dunning AM
Title:Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.
Journal: Nat Genet 45(4):371-2
Date:2013 Apr
Branches:BB, CGB, ITEB, LGS, MEB, OD, OEEB
PubMed ID:23535731
PMC ID: PMC3670748

Authors:Fargo JH,  Kratz CP,  Giri N,  Savage SA,  Wong C,  Backer K,  Alter BP,  Glader B
Title:Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.
Journal: Br J Haematol 160(4):547-54
Date:2013 Feb
Branches:CGB
PubMed ID:23252420
PMC ID: PMC3609920

Authors:Giri N,  Matsui K,  Alter BP,  Savage SA,  Pan YJ,  Pinto L
Title:Bone Marrow Cellular Composition and Inflammatory Cytokine Expression in Patients with Inherited Bone Marrow Failure Syndromes. In: 54th Annual Meeting and Exposition of the American-Society-of-Hematology (ASH), DEC 08-11, 2012, Atlanta, GA
Journal: Blood 120(21):Abstract 4401
Date:2012 Nov 16
Branches:CGB, IIB
PubMed ID:not available
PMC ID: not available

Authors:Giri Neelam,  Matsui Ken,  Alter Blanche P.,  Savage Sharon A.,  Pan Yuanji,  Pinto Ligia
Title:Bone Marrow Cellular Composition and Inflammatory Cytokine Expression in Patients with Inherited Bone Marrow Failure Syndromes
Journal: Blood 120(21):Abstract 4401
Date:2012 Nov 16
Branches:CGB, IIB
PubMed ID:not available
PMC ID: not available

Authors:Khincha P,  Wentzensen I,  Giri N,  Alter BP,  Savage SA
Title:Response to Androgen Therapy and Side Effects in Patients with Dyskeratosis Congenita. In: 54th Annual Meeting and Exposition of the American-Society-of-Hematology (ASH), DEC 08-11, 2012, Atlanta, GA
Journal: Blood 120(21):MA 2361
Date:2012 Nov 16
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:Khincha Payal,  Wentzensen Ingrid,  Giri Neelam,  Alter Blanche P.,  Savage Sharon A.
Title:Response to Androgen Therapy and Side Effects in Patients with Dyskeratosis Congenita
Journal: Blood 120(21):Abstract 2361
Date:2012 Nov 16
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:Wu LC,  Kleinerman RA,  Curtis RE,  Savage SA,  Berrington de González A
Title:Patterns of bone sarcomas as a second malignancy in relation to radiotherapy in adulthood and histologic type.
Journal: Cancer Epidemiol Biomarkers Prev 21(11):1993-9
Date:2012 Nov
Branches:CGB, REB
PubMed ID:22964827
PMC ID: PMC3493823

Authors:Thomas DM,  Savage SA,  Bond GL
Title:Hereditary and environmental epidemiology of sarcomas.
Journal: Clin Sarcoma Res 2(1):13
Date:2012 Oct 4
Branches:CGB
PubMed ID:23036137
PMC ID: PMC3496692

Authors:Mai PL,  Malkin D,  Garber JE,  Schiffman JD,  Weitzel JN,  Strong LC,  Wyss O,  Locke L,  Means V,  Achatz MI,  Hainaut P,  Frebourg T,  Evans DG,  Bleiker E,  Patenaude A,  Schneider K,  Wilfond B,  Peters JA,  Hwang PM,  Ford J,  Tabori U,  Ognjanovic S,  Dennis PA,  Wentzensen IM,  Greene MH,  Fraumeni JF Jr,  Savage SA
Title:Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium.
Journal: Cancer Genet 205(10):479-87
Date:2012 Oct
Branches:CGB, OD
PubMed ID:22939227
PMC ID: PMC3593717

Authors:Fargo John,  Kratz Christian,  Giri Neelam,  Savage Sharon,  Wong Carolyn,  Backer Karen,  Alter Blanche,  Glader Bertil
Title:Adenosine Deaminase: How Good is It for the Diagnosis of Diamond-Blackfan Anemia?
Journal: Pediatr Blood Cancer 58(7):1016-1016
Date:2012 Jul
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:Reed H,  Giri N,  Savage S,  Stratton P,  Alter B
Title:Fetal loss among mothers of patients with inherited bone marrow failure syndromes.
Journal: Pediatric Blood & Cancer 58(7):1023-24
Date:2012 Jul
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:Jacobs KB,  Yeager M,  Zhou W,  Wacholder S,  Wang Z,  Rodriguez-Santiago B,  Hutchinson A,  Deng X,  Liu C,  Horner MJ,  Cullen M,  Epstein CG,  Burdett L,  Dean MC,  Chatterjee N,  Sampson J,  Chung CC,  Kovaks J,  Gapstur SM,  Stevens VL,  Teras LT,  Gaudet MM,  Albanes D,  Weinstein SJ,  Virtamo J,  Taylor PR,  Freedman ND,  Abnet CC,  Goldstein AM,  Hu N,  Yu K,  Yuan JM,  Liao L,  Ding T,  Qiao YL,  Gao YT,  Koh WP,  Xiang YB,  Tang ZZ,  Fan JH,  Aldrich MC,  Amos C,  Blot WJ,  Bock CH,  Gillanders EM,  Harris CC,  Haiman CA,  Henderson BE,  Kolonel LN,  Le Marchand L,  McNeill LH,  Rybicki BA,  Schwartz AG,  Signorello LB,  Spitz MR,  Wiencke JK,  Wrensch M,  Wu X,  Zanetti KA,  Ziegler RG,  Figueroa JD,  Garcia-Closas M,  Malats N,  Marenne G,  Prokunina-Olsson L,  Baris D,  Schwenn M,  Johnson A,  Landi MT,  Goldin L,  Consonni D,  Bertazzi PA,  Rotunno M,  Rajaraman P,  Andersson U,  Beane Freeman LE,  Berg CD,  Buring JE,  Butler MA,  Carreon T,  Feychting M,  Ahlbom A,  Gaziano JM,  Giles GG,  Hallmans G,  Hankinson SE,  Hartge P,  Henriksson R,  Inskip PD,  Johansen C,  Landgren A,  McKean-Cowdin R,  Michaud DS,  Melin BS,  Peters U,  Ruder AM,  Sesso HD,  Severi G,  Shu XO,  Visvanathan K,  White E,  Wolk A,  Zeleniuch-Jacquotte A,  Zheng W,  Silverman DT,  Kogevinas M,  Gonzalez JR,  Villa O,  Li D,  Duell EJ,  Risch HA,  Olson SH,  Kooperberg C,  Wolpin BM,  Jiao L,  Hassan M,  Wheeler W,  Arslan AA,  Bueno-de-Mesquita HB,  Fuchs CS,  Gallinger S,  Gross MD,  Holly EA,  Klein AP,  LaCroix A,  Mandelson MT,  Petersen G,  Boutron-Ruault MC,  Bracci PM,  Canzian F,  Chang K,  Cotterchio M,  Giovannucci EL,  Goggins M,  Hoffman Bolton JA,  Jenab M,  Khaw KT,  Krogh V,  Kurtz RC,  McWilliams RR,  Mendelsohn JB,  Rabe KG,  Riboli E,  Tjønneland A,  Tobias GS,  Trichopoulos D,  Elena JW,  Yu H,  Amundadottir L,  Stolzenberg-Solomon RZ,  Kraft P,  Schumacher F,  Stram D,  Savage SA,  Mirabello L,  Andrulis IL,  Wunder JS,  Patiño García A,  Sierrasesúmaga L,  Barkauskas DA,  Gorlick RG,  Purdue M,  Chow WH,  Moore LE,  Schwartz KL,  Davis FG,  Hsing AW,  Berndt SI,  Black A,  Wentzensen N,  Brinton LA,  Lissowska J,  Peplonska B,  McGlynn KA,  Cook MB,  Graubard BI,  Kratz CP,  Greene MH,  Erickson RL,  Hunter DJ,  Thomas G,  Hoover RN,  Real FX,  Fraumeni JF Jr,  Caporaso NE,  Tucker M,  Rothman N,  Pérez-Jurado LA,  Chanock SJ
Title:Detectable clonal mosaicism and its relationship to aging and cancer.
Journal: Nat Genet 44(6):651-8
Date:2012 May 6
Branches:BB, CGB, CGR, ITEB, MEB, IIB, LGS, LTG, OD, OEEB, REB, TDRP
PubMed ID:22561519
PMC ID: PMC3372921

Authors:Rackley S,  Pao M,  Seratti GF,  Giri N,  Rasimas JJ,  Alter BP,  Savage SA
Title:Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology?
Journal: Psychosomatics 53(3):230-5
Date:2012 May-Jun
Branches:CGB
PubMed ID:22458992
PMC ID: PMC3348420

Authors:Gu Fangyi,  Pfeiffer Ruth,  Taylor Phil,  Berndt Sonja,  Yang Hanna,  Han Summer,  Sigurdson Alice,  Toro Jorge,  Mirabello Lisa,  Freedman Neal,  Abnet Christian,  Dawsey Sanford,  Hu Nan,  Qiao You-Lin,  Ding Ti,  Brenner Alina,  Garcia-Closas Montserrat,  Brinton Louise,  Lissowska Jolanta,  Wentzensen Nicolas,  Kratz Christian,  Moore Lee,  Ziegler Regina,  Chow Wong-Ho,  Savage Sharon,  Burdette Laurie,  Yeager Meredith,  Chanock Stephen,  Tucker Margaret,  Goldstein Alisa,  Yang Rose
Title:Genetic variants in the 9p21 region in relation to the risk of multiple tumors
Journal: Cancer Res 72(Suppl 8):Abstract LB-330
Date:2012 Apr 15
Branches:BB, CGB, CGR, ITEB, LGS, MEB, OD, OEEB, REB, TDRP
PubMed ID:not available
PMC ID: not available

Authors:Mirabello Lisa,  Chung Charles,  Yeager Meredith M.,  Savage Sharon A.
Title:Understanding cancer associated SNPs in the TERT-CLPTM1L locus through population genetics
Journal: Cancer Res 72(Suppl 8):Abstract 1668
Date:2012 Apr 15
Branches:CGB, CGR, LTG
PubMed ID:not available
PMC ID: not available

Authors:Alter BP,  Rosenberg PS,  Giri N,  Baerlocher GM,  Lansdorp PM,  Savage SA
Title:Telomere length is associated with disease severity and declines with age in dyskeratosis congenita.
Journal: Haematologica 97(3):353-9
Date:2012 Mar
Branches:BB, CGB
PubMed ID:22058220
PMC ID: PMC3291588

Authors:Savage SA
Title:Connecting complex disorders through biology.
Journal: Nat Genet 44(3):238-40
Date:2012 Feb 27
Branches:CGB
PubMed ID:22366859
PMC ID: not available

Authors:Zeng XL,  Thumati NR,  Fleisig HB,  Hukezalie KR,  Savage SA,  Giri N,  Alter BP,  Wong JM
Title:The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.
Journal: Hum Mol Genet 21(4):721-9
Date:2012 Feb 15
Branches:CGB
PubMed ID:22058290
PMC ID: PMC3263989

Authors:Gadalla SM,  Katki HA,  Shebl FM,  Giri N,  Alter BP,  Savage SA
Title:The relationship between DNA methylation and telomere length in dyskeratosis congenita.
Journal: Aging Cell 11(1):24-8
Date:2012 Feb
Branches:BB, CGB
PubMed ID:21981348
PMC ID: PMC3257380

Authors:Mirabello L,  Yeager M,  Chowdhury S,  Qi L,  Deng X,  Wang Z,  Hutchinson A,  Savage SA
Title:Worldwide genetic structure in 37 genes important in telomere biology.
Journal: Heredity (Edinb) 108(2):124-33
Date:2012 Feb
Branches:CGB, CGR
PubMed ID:21731055
PMC ID: PMC3193882

Authors:Prescott J,  Wentzensen IM,  Savage SA,  De Vivo I
Title:Epidemiologic evidence for a role of telomere dysfunction in cancer etiology.
Journal: Mutat Res 730(1-2):75-84
Date:2012 Feb 1
Branches:CGB
PubMed ID:21756922
PMC ID: PMC3222719

Authors:Bodelon C,  Pfeiffer RM,  Bollati V,  Debbache J,  Calista D,  Ghiorzo P,  Fargnoli MC,  Bianchi-Scarra G,  Peris K,  Hoxha M,  Hutchinson A,  Burdette L,  Burke L,  Fang S,  Tucker MA,  Goldstein AM,  Lee JE,  Wei Q,  Savage SA,  Yang XR,  Amos C,  Landi MT
Title:On the interplay of telomeres, nevi and the risk of melanoma.
Journal: PLoS One 7(12):e52466
Date:2012
Branches:BB, CGB, CGR, ITEB, MEB, OD, TDRP
PubMed ID:23300679
PMC ID: PMC3531488

Authors:Mirabello L,  Kratz CP,  Savage SA,  Greene MH
Title:Promoter methylation of candidate genes associated with familial testicular cancer.
Journal: Int J Mol Epidemiol Genet 3(3):213-27
Date:2012
Branches:CGB, OD
PubMed ID:23050052
PMC ID: PMC3459216

Authors:Hofmann JN,  Baccarelli A,  Schwartz K,  Davis FG,  Ruterbusch JJ,  Hoxha M,  McCarthy BJ,  Savage SA,  Wacholder S,  Rothman N,  Graubard BI,  Colt JS,  Chow WH,  Purdue MP
Title:Risk of renal cell carcinoma in relation to blood telomere length in a population-based case-control study.
Journal: Br J Cancer 105(11):1772-5
Date:2011 Nov 22
Branches:BB, CGB, OEEB
PubMed ID:22033273
PMC ID: PMC3242602

Authors:Alter BP,  Rosenberg PS,  Day Thomas,  Menzel Stephan,  Giri Neelam,  Savage SA,  Thein SL
Title:Stress Erythropoiesis and Genetic Regulation of Fetal Hemoglobin in Inherited Bone Marrow Failure Syndromes
Journal: Blood 118(21):1033
Date:2011 Nov 18
Branches:BB, CGB
PubMed ID:not available
PMC ID: not available

Authors:Giri N,  Alter BP,  Peredo-Pinto H,  Elghetany MT,  Maric I,  Savage SA,  Arthur DC
Title:Significance of Bone Marrow Karyotype and Morphology in Patients with Inherited Bone Marrow Failure Syndromes
Journal: Blood 118(21):1467
Date:2011 NOV 18
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:Gadalla SM,  Savage SA
Title:Telomere biology in hematopoiesis and stem cell transplantation.
Journal: Blood Rev 25(6):261-9
Date:2011 Nov
Branches:CGB
PubMed ID:21764192
PMC ID: not available

Authors:Canudas S,  Houghtaling BR,  Bhanot M,  Sasa G,  Savage SA,  Bertuch AA,  Smith S
Title:A role for heterochromatin protein 1γ at human telomeres.
Journal: Genes Dev 25(17):1807-19
Date:2011 Sep 1
Branches:CGB
PubMed ID:21865325
PMC ID: PMC3175717

Authors:Giri N,  Lee R,  Faro A,  Huddleston CB,  White FV,  Alter BP,  Savage SA
Title:Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review.
Journal: BMC Blood Disord 11:3
Date:2011 Jun 15
Branches:CGB
PubMed ID:21676225
PMC ID: PMC3141321

Authors:Landi Maria Teresa,  Chatterjee Nilanjan,  Yu Kai,  Goldin Lynn R.,  Goldstein Alisa M.,  Rotunno Melissa,  Mirabello Lisa,  Jacobs Kevin,  Wheeler William,  Yeager Meredith,  Bergen Andrew W.,  Li Qizhai,  Consonni Dario,  Pesatori Angela C.,  Wacholder Lom,  Thun Michael,  Diver Ryan,  Oken Martin,  Virtamo Jarmo,  Albanes Demetrius,  Wang Zhaoming,  Burdette Laurie,  Doheny Kimberly F.,  Pugh Elizabeth W.,  Laurie Cathy,  Brennan Paul,  Hung Rayjean,  Gaborieau Valerie,  Mckay James D.,  Lathrop Mark,  McLaughlin John,  Wang Ying,  Tsao Ming-Sound,  Spitz Margaret R.,  Wang Yufei,  Krokan Hans,  Vatten Lars,  Skorpen Frank,  Arnesen Egil,  Benhamou Simone,  Bouchard Christine,  Metspalu Andres,  Vooder Tonu,  Nelis Man,  Vaelk Kristian,  Field John K.,  Chen Chu,  Goodman Gary,  Sulem Patrick,  Thorleifsson Gudmar,  Rafnar Thorunn,  Eisen Timothy,  Sauter Wiebke,  Rosenberger Albert,  Bickeboeller Heike,  Risch Angela,  Chang-Claude Jenny,  Wichmann H. Erich,  Stefansson Kari,  Houlston Richard,  Amos Christopher I.,  Fraumeni Joseph F.,  Savage Sharon A.,  Bertazzi Pier Alberto,  Tucker Margaret A.,  Chanock Stephen,  Caporaso Neil E.
Title:A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma (vol 85, pg 679, 2009)
Journal: Am J Hum Genet 88(6):861-861
Date:2011 Jun 10
Branches:BB, CGB, CGR, ITEB, LGS, MEB, OD, OEEB, TDRP
PubMed ID:not available
PMC ID: not available

Authors:Landi MT,  Chatterjee N,  Yu K,  Goldin LR,  Goldstein AM,  Rotunno M,  Mirabello L,  Jacobs K,  Wheeler W,  Yeager M,  Bergen AW,  Li Q,  Consonni D,  Pesatori AC,  Wacholder S,  Thun M,  Diver R,  Oken M,  Virtamo J,  Albanes D,  Wang Z,  Burdette L,  Doheny KF,  Pugh EW,  Laurie C,  Brennan P,  Hung R,  Gaborieau V,  McKay JD,  Lathrop M,  McLaughlin J,  Wang Y,  Tsao MS,  Spitz MR,  Wang Y,  Krokan H,  Vatten L,  Skorpen F,  Arnesen E,  Benhamou S,  Bouchard C,  Metspalu A,  Vooder T,  Nelis M,  Välk K,  Field JK,  Chen C,  Goodman G,  Sulem P,  Thorleifsson G,  Rafnar T,  Eisen T,  Sauter W,  Rosenberger A,  Bickeböller H,  Risch A,  Chang-Claude J,  Wichmann HE,  Stefansson K,  Houlston R,  Amos CI,  Fraumeni JF,  Savage SA,  Bertazzi PA,  Tucker MA,  Chanock S,  Caporaso NE
Title:A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma.
Journal: Am J Hum Genet 88(6):861
Date:2011 Jun 10
Branches:BB, CGB, CGR, ITEB, MEB, OD, OEEB, TDRP
PubMed ID:28472664
PMC ID: PMC3113243

Authors:Mirabello L,  Pfeiffer R,  Murphy G,  Daw NC,  Patiño-Garcia A,  Troisi RJ,  Hoover RN,  Douglass C,  Schüz J,  Craft AW,  Savage SA
Title:Height at diagnosis and birth-weight as risk factors for osteosarcoma.
Journal: Cancer Causes Control 22(6):899-908
Date:2011 Jun
Branches:BB, CGB, MEB, TDRP
PubMed ID:21465145
PMC ID: PMC3494416

Authors:Peredo-Pinto H,  Alter BP,  Giri N,  Elghetany T,  Maric I,  Savage S,  Arthur D
Title:Significance of bone marrow karyotypes and morphology in patients with inherited bone marrow failure syndromes.
Journal: Pediatr Blood Cancer 56(6):926
Date:2011 Jun
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:Wentzensen IM,  Mirabello L,  Pfeiffer RM,  Savage SA
Title:The association of telomere length and cancer: a meta-analysis.
Journal: Cancer Epidemiol Biomarkers Prev 20(6):1238-50
Date:2011 Jun
Branches:BB, CGB
PubMed ID:21467229
PMC ID: PMC3111877

Authors:Wentzensen Ingrid,  Giri Neelam,  Shamburek Robert,  Alter Blanche,  Savage Sharon
Title:Response to Androgen Therapy and Side Effects in Patients with Dyskeratosis Congenita
Journal: Pediatr Blood Cancer 56(6):955-955
Date:2011 Jun
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:Mirabello L,  Yu K,  Berndt SI,  Burdett L,  Wang Z,  Chowdhury S,  Teshome K,  Uzoka A,  Hutchinson A,  Grotmol T,  Douglass C,  Hayes RB,  Hoover RN,  Savage SA,  National Osteosarcoma Etiology Study Group
Title:A comprehensive candidate gene approach identifies genetic variation associated with osteosarcoma.
Journal: BMC Cancer 11:209
Date:2011 May 29
Branches:BB, CGB, CGR, OEEB, TDRP
PubMed ID:21619704
PMC ID: PMC3138419

Authors:Batista LF,  Pech MF,  Zhong FL,  Nguyen HN,  Xie KT,  Zaug AJ,  Crary SM,  Choi J,  Sebastiano V,  Cherry A,  Giri N,  Wernig M,  Alter BP,  Cech TR,  Savage SA,  Reijo Pera RA,  Artandi SE
Title:Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.
Journal: Nature 474(7351):399-402
Date:2011 May 22
Branches:CGB
PubMed ID:21602826
PMC ID: PMC3155806

Authors:Prescott J,  Kraft P,  Chasman DI,  Savage SA,  Mirabello L,  Berndt SI,  Weissfeld JL,  Han J,  Hayes RB,  Chanock SJ,  Hunter DJ,  De Vivo I
Title:Genome-wide association study of relative telomere length.
Journal: PLoS One 6(5):e19635
Date:2011 May 10
Branches:CGB, CGR, LTG, OEEB
PubMed ID:21573004
PMC ID: PMC3091863

Authors:Savage SA,  Giri N,  Jessop L,  Pike K,  Plona T,  Burdett L,  Alter BP
Title:Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita.
Journal: J Med Genet 48(4):285-8
Date:2011 Apr
Branches:CGB, CGR, LTG
PubMed ID:21209122
PMC ID: not available

Authors:Pulsipher MA,  Young NS,  Tolar J,  Risitano AM,  Deeg HJ,  Anderlini P,  Calado R,  Kojima S,  Eapen M,  Harris R,  Scheinberg P,  Savage S,  Maciejewski JP,  Tiu RV,  DiFronzo N,  Horowitz MM,  Antin JH
Title:Optimization of therapy for severe aplastic anemia based on clinical, biologic, and treatment response parameters: conclusions of an international working group on severe aplastic anemia convened by the Blood and Marrow Transplant Clinical Trials Network, March 2010.
Journal: Biol Blood Marrow Transplant 17(3):291-9
Date:2011 Mar
Branches:CGB
PubMed ID:21034841
PMC ID: PMC3053041

Authors:Dietz AC,  Orchard PJ,  Baker KS,  Giller RH,  Savage SA,  Alter BP,  Tolar J
Title:Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita.
Journal: Bone Marrow Transplant 46(1):98-104
Date:2011 Jan
Branches:CGB
PubMed ID:20383216
PMC ID: not available

Authors:Savage SA,  Mirabello L
Title:Using epidemiology and genomics to understand osteosarcoma etiology.
Journal: Sarcoma 2011:548151
Date:2011
Branches:CGB
PubMed ID:21437228
PMC ID: PMC3061299

Authors:Zhong F,  Savage SA,  Shkreli M,  Giri N,  Jessop L,  Myers T,  Chen R,  Alter BP,  Artandi SE
Title:Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.
Journal: Genes Dev 25(1):11-6
Date:2011 Jan 1
Branches:CGB, LTG
PubMed ID:21205863
PMC ID: PMC3012932

Authors:Savage SA,  Bertuch AA
Title:The genetics and clinical manifestations of telomere biology disorders.
Journal: Genet Med 12(12):753-64
Date:2010 Dec
Branches:CGB
PubMed ID:21189492
PMC ID: PMC3825100

Authors:Alter Blanche P.,  Giri Neelam,  Lansdorp Peter M.,  Baerlocher Gabriela M.,  Rosenberg Philip S.,  Savage Sharon
Title:Longitudinal Changes In Telomere Length In Patients with Dyskeratois Congenita.
Journal: Blood 116(21):917-918
Date:2010 Nov 19
Branches:BB, CGB
PubMed ID:not available
PMC ID: not available

Authors:Alter P,  Giri Neelam,  Peter M,  Gabriela M,  Rosenberg S,  Savage SA
Title:Longitudinal Changes In Telomere Length In Patients with Dyskeratois Congenita. In: 53rd Annual Meeting and Exposition, December 10-13, 2011
Journal: BLood 116(21):917-18
Date:2010 Nov 19
Branches:BB, CGB
PubMed ID:not available
PMC ID: not available

Authors:Calado R,  Savage SA,  Peterson NR,  Takaku T,  Lansdorp PM,  Maric I,  Young NS
Title:TINF2 Mutations In Patients with Aplastic Anemia Result In Low TIN2 Expression In Hematopoietic Cells and Very Short Telomeres
Journal: Blood 116(21):502-503
Date:2010 Nov 19
Branches:CGB, OD
PubMed ID:not available
PMC ID: not available

Authors:Giri N,  Alter BP,  Savage SA,  Pan YJ,  Williams M,  Kemp T,  Penrose K,  Falk R,  Pinto L
Title:Studies of Immune Function In the Inherited Bone Marrow Failure Syndromes.
Journal: Blood 116(21):504
Date:2010 Nov 19
Branches:CGB, IIB, MEB
PubMed ID:not available
PMC ID: not available

Authors:Gadalla SM,  Cawthon R,  Giri N,  Alter BP,  Savage SA
Title:Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes.
Journal: Aging (Albany NY) 2(11):867-74
Date:2010 Nov
Branches:CGB
PubMed ID:21113082
PMC ID: PMC3006028

Authors:Savage SA,  Zhong FL,  Giri N,  Jessop L,  Myers T,  Chen RN,  Alter BP,  Artandi S
Title:Mutations In TCAB1 Cause Dyskeratosis Congenita
Journal: Blood 116(21):90-91
Date:2010 Nov
Branches:CGB, LTG
PubMed ID:not available
PMC ID: not available

Authors:Mirabello L,  Yu K,  Kraft P,  De Vivo I,  Hunter DJ,  Prescott J,  Wong JY,  Chatterjee N,  Hayes RB,  Savage SA
Title:The association of telomere length and genetic variation in telomere biology genes.
Journal: Hum Mutat 31(9):1050-8
Date:2010 Sep
Branches:CGB, BB, IIB
PubMed ID:20597107
PMC ID: PMC2932868

Authors:Mirabello L,  Berndt SI,  Seratti GF,  Burdett L,  Yeager M,  Chowdhury S,  Teshome K,  Uzoka A,  Douglass C,  Hayes RB,  Hoover RN,  Savage SA,  National Osteosarcoma Etiology Study Group
Title:Genetic variation at chromosome 8q24 in osteosarcoma cases and controls.
Journal: Carcinogenesis 31(8):1400-4
Date:2010 Aug
Branches:OEEB, CGB, CGR, TDRP
PubMed ID:20530236
PMC ID: PMC2915635

Authors:Alter BP,  Giri N,  Savage SA,  Peters JA,  Loud JT,  Leathwood L,  Carr AG,  Greene MH,  Rosenberg PS
Title:Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.
Journal: Br J Haematol 150(2):179-88
Date:2010 Jul
Branches:BB, CGB
PubMed ID:20507306
PMC ID: PMC3125983

Authors:Mirabello L,  Savage SA,  Korde L,  Gadalla SM,  Greene MH
Title:LINE-1 methylation is inherited in familial testicular cancer kindreds.
Journal: BMC Med Genet 11:77
Date:2010 May 17
Branches:CGB
PubMed ID:20478068
PMC ID: PMC2880977

Authors:Tsilou ET,  Giri N,  Weinstein S,  Mueller C,  Savage SA,  Alter BP
Title:Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.
Journal: Ophthalmology 117(3):615-22
Date:2010 Mar
Branches:CGB
PubMed ID:20022637
PMC ID: PMC2830377

Authors:Mirabello L,  Garcia-Closas M,  Cawthon R,  Lissowska J,  Brinton LA,  Pepłońska B,  Sherman ME,  Savage SA
Title:Leukocyte telomere length in a population-based case-control study of ovarian cancer: a pilot study.
Journal: Cancer Causes Control 21(1):77-82
Date:2010 Jan
Branches:CGB, ITEB, MEB, OD, OEEB
PubMed ID:19784860
PMC ID: PMC3130499

Authors:Gadalla Shahinaz M,  Cawthon Richard,  Giri Neelam,  Baerlocher Gabriela,  Lansdorp Peter M,  Alter Blanche P,  Savage Sharon A
Title:Correlation of Telomere Length in Blood, Buccal Cells, and Fibroblasts From Patients with Inherited Bone Marrow Failure Syndromes.
Journal: Blood 114(22):446
Date:2009 Nov 20
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:Giri N,  Maric I,  Wesley R,  Arthur DC,  Noel P,  Savage SA,  Alter BP
Title:Bone Marrow Fibrosis in Patients with Inherited Bone Marrow Failure Syndromes
Journal: Blood 114(22):1236-37
Date:2009 Nov 20
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:Hou L,  Savage SA,  Blaser MJ,  Perez-Perez G,  Hoxha M,  Dioni L,  Pegoraro V,  Dong LM,  Zatonski W,  Lissowska J,  Chow WH,  Baccarelli A
Title:Telomere length in peripheral leukocyte DNA and gastric cancer risk.
Journal: Cancer Epidemiol Biomarkers Prev 18(11):3103-9
Date:2009 Nov
Branches:CGB, OEEB
PubMed ID:19861514
PMC ID: PMC2938741

Authors:Landi MT,  Chatterjee N,  Yu K,  Goldin LR,  Goldstein AM,  Rotunno M,  Mirabello L,  Jacobs K,  Wheeler W,  Yeager M,  Bergen AW,  Li Q,  Consonni D,  Pesatori AC,  Wacholder S,  Thun M,  Diver R,  Oken M,  Virtamo J,  Albanes D,  Wang Z,  Burdette L,  Doheny KF,  Pugh EW,  Laurie C,  Brennan P,  Hung R,  Gaborieau V,  McKay JD,  Lathrop M,  McLaughlin J,  Wang Y,  Tsao MS,  Spitz MR,  Wang Y,  Krokan H,  Vatten L,  Skorpen F,  Arnesen E,  Benhamou S,  Bouchard C,  Metspalu A,  Vooder T,  Nelis M,  Välk K,  Field JK,  Chen C,  Goodman G,  Sulem P,  Thorleifsson G,  Rafnar T,  Eisen T,  Sauter W,  Rosenberger A,  Bickeböller H,  Risch A,  Chang-Claude J,  Wichmann HE,  Stefansson K,  Houlston R,  Amos CI,  Fraumeni JF Jr,  Savage SA,  Bertazzi PA,  Tucker MA,  Chanock S,  Caporaso NE
Title:A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.
Journal: Am J Hum Genet 85(5):679-91
Date:2009 Nov
Branches:BB, CGB, CGR, ITEB, LTG, MEB, OD, TDRP
PubMed ID:19836008
PMC ID: PMC2775843

Authors:Fitzhugh CD,  Wise B,  Baird K,  Tsokos M,  Helman L,  Mackall C,  Savage SA,  Warren KE
Title:Secondary supratentorial primitive neuroectodermal tumor following treatment of childhood osteosarcoma.
Journal: Pediatr Blood Cancer 53(3):496-8
Date:2009 Sep
Branches:CGB
PubMed ID:19434734
PMC ID: PMC2760453

Authors:Savage SA,  Dokal I,  Armanios M,  Aubert G,  Cowen EW,  Domingo DL,  Giri N,  Greene MH,  Orchard PJ,  Tolar J,  Tsilou E,  Van Waes C,  Wong JM,  Young NS,  Alter BP
Title:Dyskeratosis congenita: the first NIH clinical research workshop.
Journal: Pediatr Blood Cancer 53(3):520-3
Date:2009 Sep
Branches:CGB
PubMed ID:19415736
PMC ID: PMC2739803

Authors:Mirabello L,  Huang WY,  Wong JY,  Chatterjee N,  Reding D,  Crawford ED,  De Vivo I,  Hayes RB,  Savage SA
Title:The association between leukocyte telomere length and cigarette smoking, dietary and physical variables, and risk of prostate cancer.
Journal: Aging Cell 8(4):405-13
Date:2009 Aug
Branches:CGB, OEEB, BB
PubMed ID:19493248
PMC ID: PMC2742954

Authors:Mirabello L,  Troisi RJ,  Savage SA
Title:International osteosarcoma incidence patterns in children and adolescents, middle ages and elderly persons.
Journal: Int J Cancer 125(1):229-34
Date:2009 Jul 1
Branches:CGB, ITEB, TDRP
PubMed ID:19330840
PMC ID: PMC3048853

Authors:Alter BP,  Giri N,  Savage SA,  Rosenberg PS
Title:Cancer in dyskeratosis congenita.
Journal: Blood 113(26):6549-57
Date:2009 Jun 25
Branches:BB, CGB
PubMed ID:19282459
PMC ID: PMC2710915

Authors:Mirabello Lisa,  Garcia-Closas Montserrat,  Cawthon Richard,  Lissowska Jolanta,  Peplonska Beata,  Brinton Louise,  Sherman Mark,  Savage Sharon
Title:Shorter germline telomere length is associated with increased ovarian cancer risk in the population-based Polish Ovarian Cancer Study
Journal: Cancer Res 69(Suppl 9):Abstract 3489
Date:2009 May 1
Branches:CGB, ITEB, MEB, OD, OEEB
PubMed ID:not available
PMC ID: not available

Authors:Alter BP,  Giri N,  Savage SA,  Rosenberg PS
Title:Cancer in Inherited Bone Marrow Failure Syndromes
Journal: Haematol-Hematol J 94:S7-S7
Date:2009 Apr
Branches:BB, CGB
PubMed ID:not available
PMC ID: not available

Authors:Mirabello L,  Troisi RJ,  Savage SA
Title:Osteosarcoma incidence and survival rates from 1973 to 2004: data from the Surveillance, Epidemiology, and End Results Program.
Journal: Cancer 115(7):1531-43
Date:2009 Apr 1
Branches:TDRP
PubMed ID:19197972
PMC ID: PMC2813207

Authors:Rezgui D,  Williams C,  Savage SA,  Prince SN,  Zaccheo OJ,  Jones EY,  Crump MP,  Hassan AB
Title:Structure and function of the human Gly1619Arg polymorphism of M6P/IGF2R domain 11 implicated in IGF2 dependent growth.
Journal: J Mol Endocrinol 42(4):341-56
Date:2009 Apr
Branches:CGB
PubMed ID:19208780
PMC ID: PMC2659294

Authors:Savage SA,  Alter BP
Title:Dyskeratosis congenita.
Journal: Hematol Oncol Clin North Am 23(2):215-31
Date:2009 Apr
Branches:CGB
PubMed ID:19327580
PMC ID: PMC2702847

Authors:Alter Blanche P,  Baerlocher Gabriela,  Giri Neelam,  Lansdorp Peter M,  Savage Sharon A
Title:Very Short Telomeres Are Characteristic of Dyskeratosis Congenita and Not Other Inherited Bone Marrow Failure Syndromes.
Journal: Blood 112(11):382-382
Date:2008 Nov 16
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:Giri Neelam,  Mueller Christine,  Weinstein Sarah,  Hill Suvimol,  Butman John,  Tsilou Ekaterini,  Hung Jeffrey Kim,  Savage Sharon A.,  Alter Blanche P.
Title:The First Single Center Phenotypic Comparison of Fanconi Anemia, Dyskeratosis Congenita, Diamond-Blackfan Anemia, and Shwachman-Diamond Syndrome: The NCI IBMFS Cohort.
Journal: Blood 112(11):712-712
Date:2008 Nov 16
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:Rosenberg PS,  Giri N,  Savage SA,  Alter BP
Title:Cancer Epidemiology in the National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort: First Report
Journal: Blood 112(11):21-21
Date:2008 Nov 16
Branches:BB, CGB
PubMed ID:not available
PMC ID: not available

Authors:Xin ZT,  Calado R,  Savage SA,  Lansdorp PM,  Young NS,  Ly H
Title:Characterization of Novel Natural Mutations in Telomere Binding Protein Factor(TIN2) Identified in Patients with Bone-Marrow Failure Syndromes
Journal: Blood 112(11):1064-1064
Date:2008 Nov 16
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:Savage SA
Title:Cancer genetic association studies in the genome-wide age.
Journal: Per Med 5(6):589-597
Date:2008 Nov 1
Branches:CGB
PubMed ID:19727433
PMC ID: PMC2659339

Authors:Savage SA,  Gerstenblith MR,  Goldstein AM,  Mirabello L,  Fargnoli MC,  Peris K,  Landi MT
Title:Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.
Journal: BMC Genet 9:31
Date:2008 Apr 10
Branches:CGB, ITEB
PubMed ID:18402696
PMC ID: PMC2324112

Authors:Shen HC,  Rosen JE,  Yang LM,  Savage SA,  Burns AL,  Mateo CM,  Agarwal SK,  Chandrasekharappa SC,  Spiegel AM,  Collins FS,  Marx SJ,  Libutti SK
Title:Parathyroid tumor development involves deregulation of homeobox genes.
Journal: Endocr Relat Cancer 15(1):267-75
Date:2008 Mar
Branches:CGB
PubMed ID:18310293
PMC ID: PMC3133970

Authors:Savage SA,  Giri N,  Baerlocher GM,  Orr N,  Lansdorp PM,  Alter BP
Title:TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.
Journal: Am J Hum Genet 82(2):501-9
Date:2008 Feb
Branches:CGB
PubMed ID:18252230
PMC ID: PMC2427222

Authors:Savage SA,  Alter BP
Title:The role of telomere biology in bone marrow failure and other disorders.
Journal: Mech Ageing Dev 129(1-2):35-47
Date:2008 Jan-Feb
Branches:CGB
PubMed ID:18160098
PMC ID: PMC2278290

Authors:Savage Sharon A.,  Giri Neelam,  Baerlocher Gabriela M.,  Orr Nick,  Lansdorp Peter M.,  Alter Blanche P.
Title:TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita
Journal: Blood 110(11):256A, Abstract 835
Date:2007 Nov 16
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:Savage SA,  Greene MH
Title:The evidence for prostate cancer risk loci at 8q24 grows stronger.
Journal: J Natl Cancer Inst 99(20):1499-501
Date:2007 Oct 17
Branches:CGB
PubMed ID:17925532
PMC ID: not available

Authors:Savage SA,  Chanock SJ,  Lissowska J,  Brinton LA,  Richesson D,  Peplonska B,  Bardin-Mikolajczak A,  Zatonski W,  Szeszenia-Dabrowska N,  Garcia-Closas M
Title:Genetic variation in five genes important in telomere biology and risk for breast cancer.
Journal: Br J Cancer 97(6):832-6
Date:2007 Sep 17
Branches:CGB, MEB, LGS, OD, OEEB
PubMed ID:17848914
PMC ID: PMC2360388

Authors:Alter BP,  Baerlocher GM,  Savage SA,  Chanock SJ,  Weksler BB,  Willner JP,  Peters JA,  Giri N,  Lansdorp PM
Title:Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.
Journal: Blood 110(5):1439-47
Date:2007 Sep 1
Branches:CGB, CGR
PubMed ID:17468339
PMC ID: PMC1975834

Authors:Savage SA,  Woodson K,  Walk E,  Modi W,  Liao J,  Douglass C,  Hoover RN,  Chanock SJ,  National Osteosarcoma Etiology Study Group
Title:Analysis of genes critical for growth regulation identifies Insulin-like Growth Factor 2 Receptor variations with possible functional significance as risk factors for osteosarcoma.
Journal: Cancer Epidemiol Biomarkers Prev 16(8):1667-74
Date:2007 Aug
Branches:CGB, CGR, TDRP
PubMed ID:17684144
PMC ID: not available

Authors:Savage SA,  Burdett L,  Troisi R,  Douglass C,  Hoover RN,  Chanock SJ,  National Osteosarcoma Etiology study group
Title:Germ-line genetic variation of TP53 in osteosarcoma.
Journal: Pediatr Blood Cancer 49(1):28-33
Date:2007 Jul
Branches:CGB, CGR, LTG, TDRP
PubMed ID:17096406
PMC ID: not available

Authors:Giri Neelam,  Savage Sharon,  Khaghani Sara,  Alter Blanche P
Title:The clinical spectrum of dyskeratosis congenita
Journal: Pediatr Blood Cancer 48(6):604-604
Date:2007 Jun 1
Branches:CGB
PubMed ID:not available
PMC ID: not available

Authors:Alter Blanche P.,  Baerlocher Gabriela,  Savage Sharon A.,  Chanock Stephen Jacob,  Weksler Babette B.,  Willner Judith P.,  Peters June A.,  Lansdorp Peter M.
Title:Telomere length measurement by flow-FISH distinguishes Dyskeratosis congenita from other bone marrow failure syndromes.
Journal: Blood 108(11):58A-59A, Abstract 183
Date:2006 Nov 16
Branches:CGB, LGS, OD
PubMed ID:not available
PMC ID: not available

Authors:Savage SA
Title:Genetic association studies: where are we now?
Journal: Per Med 3(4):371-374
Date:2006 Nov
Branches:CGB
PubMed ID:29788591
PMC ID: not available

Authors:Savage SA,  Stewart BJ,  Weksler BB,  Baerlocher GM,  Lansdorp PM,  Chanock SJ,  Alter BP
Title:Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
Journal: Blood Cells Mol Dis 37(2):134-6
Date:2006 Sep-Oct
Branches:CGB, LTG, OD
PubMed ID:16934504
PMC ID: not available

Authors:Savage SA,  Chanock SJ
Title:Genetic association studies in cancer: good, bad or no longer ugly?
Journal: Hum Genomics 2(6):415-21
Date:2006 Jun
Branches:CGB, CGR, LTG
PubMed ID:16848979
PMC ID: PMC3525166

Authors:Savage SA,  Calado RT,  Xin ZT,  Ly H,  Young NS,  Chanock SJ
Title:Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemia.
Journal: Exp Hematol 34(5):664-71
Date:2006 May
Branches:CGB, LGS, OD
PubMed ID:16647572
PMC ID: not available

Authors:Savage SA,  Hou L,  Lissowska J,  Chow WH,  Zatonski W,  Chanock SJ,  Yeager M
Title:Interleukin-8 polymorphisms are not associated with gastric cancer risk in a Polish population.
Journal: Cancer Epidemiol Biomarkers Prev 15(3):589-91
Date:2006 Mar
Branches:CGB, MEB, OEEB, CGR
PubMed ID:16537722
PMC ID: not available

Authors:Savage SA,  Calado RT,  Young NS,  Chanock SJ
Title:Genetic variation in TERF1 but not TERF2 is associated with aplastic anemia risk.
Journal: Blood 106(11):303A, Abstract 1037
Date:2005 Nov 16
Branches:CGB, LGS, OD
PubMed ID:not available
PMC ID: not available

Authors:Savage SA,  Stewart BJ,  Eckert A,  Kiley M,  Liao JS,  Chanock SJ
Title:Genetic variation, nucleotide diversity, and linkage disequilibrium in seven telomere stability genes suggest that these genes may be under constraint.
Journal: Hum Mutat 26(4):343-50
Date:2005 Oct
Branches:CGB, LGS, OD
PubMed ID:16110488
PMC ID: not available

Authors:Savage SA,  Stewart BJ,  Liao JS,  Helman LJ,  Chanock SJ
Title:Telomere stability genes are not mutated in osteosarcoma cell lines.
Journal: Cancer Genet Cytogenet 160(1):79-81
Date:2005 Jul 1
Branches:CGB, LGS, OD
PubMed ID:15949576
PMC ID: not available

Authors:Savage SA,  Abnet CC,  Mark SD,  Qiao YL,  Dong ZW,  Dawsey SM,  Taylor PR,  Chanock SJ
Title:Variants of the IL8 and IL8RB genes and risk for gastric cardia adenocarcinoma and esophageal squamous cell carcinoma.
Journal: Cancer Epidemiol Biomarkers Prev 13(12):2251-7
Date:2004 Dec
Branches:BB, CGR, MEB, CGB, ITEB
PubMed ID:15598788
PMC ID: not available

Authors:Calado RT,  Savage SA,  Lansdorp PM,  Chanock SJ,  Young NS
Title:Genes encoding telomere-binding proteins TERF1, TERF2 and TIN2 are mutated in patients with acquired aplastic anemia.
Journal: Blood 104(11):53A, Abstract 170
Date:2004 Nov 16
Branches:CGB, LGS, OD
PubMed ID:not available
PMC ID: not available

Authors:Savage SA,  Abnet CC,  Haque K,  Mark SD,  Qiao YL,  Dong ZW,  Dawsey SM,  Taylor PR,  Chanock SJ
Title:Polymorphisms in interleukin -2, -6, and -10 are not associated with gastric cardia or esophageal cancer in a high-risk chinese population.
Journal: Cancer Epidemiol Biomarkers Prev 13(9):1547-9
Date:2004 Sep
Branches:BB, CGR, MEB, CGB, ITEB
PubMed ID:15342460
PMC ID: not available

Authors:Savage SA,  Chanock SJ
Title:Using germ-line genetic variation to investigate and treat cancer.
Journal: Drug Discov Today 9(14):610-8
Date:2004 Jul 15
Branches:CGB, LGS, OD
PubMed ID:15239980
PMC ID: not available

Authors:Wilson DB,  Park JR,  Andritsos L,  Kulkarni S,  Savage SA,  Chanock SJ,  Shannon KM,  Monica B
Title:Monosomy 7 myelodysplastic-myeloproliferative syndrome in an infant with a germline mutation in the primer alignment region of the telomerase RNA (TERC) gene.
Journal: Blood 102(11):425A, Abstract 1544
Date:2003 Nov 16
Branches:BB, CGB, LGS, OD
PubMed ID:not available
PMC ID: not available

Authors:Savage SA,  Chanock S
Title:Genetic variation and hematopoietic stem cell transplantation: expansion of the paradigm.
Journal: Pediatr Transplant 7 Suppl 3:32-9
Date:2003
Branches:CGB, LGS, OD
PubMed ID:12603690
PMC ID: not available

Authors:Taylor JG 6th,  Tang DC,  Savage SA,  Leitman SF,  Heller SI,  Serjeant GR,  Rodgers GP,  Chanock SJ
Title:Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell disease.
Journal: Blood 100(13):4303-9
Date:2002 Dec 15
Branches:CGB, LGS, OD
PubMed ID:12393616
PMC ID: not available

Authors:Taylor JG,  Choi EH,  Savage S,  Rodgers GP,  Chanock SJ
Title:Genomic diversity of the VCAM1 locus in human populations.
Journal: Blood 98(11):244A-245A, Abstract 1026
Date:2001 Nov 16
Branches:CGB, LGS, OD
PubMed ID:not available
PMC ID: not available

Authors:Mirabello L,  Curtis RE,  Savage SA
Title:Bone Cancers
Date:2018
Book Editors:Thun MJ
Book Title:Schottenfeld and Fraumeni: Cancer Epidemiology and Prevention
ISBN: 9780190238667
PubMed ID: not available

Authors:Morton LM,  Savage SA,  Bhatia S
Title:Multiple Primary Cancers
Date:2018
Book Editors:Thun MJ
Book Title:Schottenfeld and Fraumeni: Cancer Epidemiology and Prevention
ISBN: 9780190238667
PubMed ID: not available

Authors:Savage SA
Title:Dyskeratosis Congenita.
Date:2009 November 12
Book Editors:Adam MP
Book Title:GeneReviews™ [Internet]
ISBN:
PubMed ID: 20301779