Publications by authors named "Sharon A Savage"

99Publications

Re-equilibration of imbalanced NAD metabolism ameliorates the impact of telomere dysfunction.

EMBO J 2020 Sep 16:e103420. Epub 2020 Sep 16.

Biomedical Research Center, National Institute on Aging/National Institutes of Health, Baltimore, MD, USA.

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http://dx.doi.org/10.15252/embj.2019103420DOI Listing
September 2020

Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.

Hum Mutat 2020 Aug 12. Epub 2020 Aug 12.

Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas.

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http://dx.doi.org/10.1002/humu.24092DOI Listing
August 2020

Risk of Second Primary Bone and Soft-Tissue Sarcomas Among Young Adulthood Cancer Survivors.

JNCI Cancer Spectr 2019 Sep 20;3(3):pkz043. Epub 2019 Jun 20.

Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD.

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http://dx.doi.org/10.1093/jncics/pkz043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7049991PMC
September 2019

Measuring Awareness in People With Dementia: Results of a Systematic Scoping Review.

J Geriatr Psychiatry Neurol 2020 May 13:891988720924717. Epub 2020 May 13.

University of Exeter Medical School, South Cloisters, St Luke's Campus, Exeter, United Kingdom.

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http://dx.doi.org/10.1177/0891988720924717DOI Listing
May 2020

CNS manifestations in patients with telomere biology disorders.

Neurol Genet 2019 Dec 29;5(6):370. Epub 2019 Oct 29.

Clinical Genetics Branch (S.B., N.G., B.P.A., S.A.S.) and Biostatistics Branch (A.F.B.), Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville; Office of the Clinical Director (M.P.), National Institute of Mental Health, National Institutes of Health, Bethesda, MD; Department of Neurology (A.G.), Children's National Medical Center, Washington, DC; and Department of Radiology and Imaging Sciences (E.H.B.), Clinical Center, National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878838PMC
December 2019

1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes.

Cold Spring Harb Mol Case Stud 2019 12 13;5(6). Epub 2019 Dec 13.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20859, USA.

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http://dx.doi.org/10.1101/mcs.a004564DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913155PMC
December 2019

Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder.

ERJ Open Res 2019 Oct 15;5(4). Epub 2019 Nov 15.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1183/23120541.00209-2019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856494PMC
October 2019

An update on the biology and management of dyskeratosis congenita and related telomere biology disorders.

Expert Rev Hematol 2019 12 10;12(12):1037-1052. Epub 2019 Sep 10.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1080/17474086.2019.1662720DOI Listing
December 2019

Measuring awareness in people with dementia: protocol for a scoping review.

Syst Rev 2019 07 4;8(1):160. Epub 2019 Jul 4.

REACH: The Centre for Research in Ageing and Cognitive Health, School of Psychology, University of Exeter Medical School and College of Life and Environmental Sciences, St Luke's Campus, Exeter, EX1 2LU, UK.

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http://dx.doi.org/10.1186/s13643-019-1078-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6610918PMC
July 2019

Reproductive factors associated with breast cancer risk in Li-Fraumeni syndrome.

Eur J Cancer 2019 07 15;116:199-206. Epub 2019 Jun 15.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 9609, Medical Center Drive, MSC 9772, Bethesda, 20892, USA; Centro de Oncologia, Hospital Sirio-Libanes, Rua Dona Adma Jafet, 115- Bela Vista, Sao Paulo, Brazil.

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http://dx.doi.org/10.1016/j.ejca.2019.05.005DOI Listing
July 2019

NMDA receptor antibody encephalitis presenting as Transient Epileptic Amnesia.

J Neuroimmunol 2019 02 22;327:41-43. Epub 2019 Jan 22.

Cognitive Neurology Research Group, University of Exeter Medical School, Exeter, UK.

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http://dx.doi.org/10.1016/j.jneuroim.2019.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367595PMC
February 2019

Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence.

J Psychosoc Oncol 2019 Mar-Apr;37(2):178-193. Epub 2018 Dec 28.

a Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics , National Cancer Institute , Rockville , Maryland , USA.

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http://dx.doi.org/10.1080/07347332.2018.1543376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6584025PMC
February 2020

Telomere Length Calibration from qPCR Measurement: Limitations of Current Method.

Cells 2018 Oct 24;7(11). Epub 2018 Oct 24.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.3390/cells7110183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262465PMC
October 2018

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.

Hum Mutat 2019 01 19;40(1):97-105. Epub 2018 Nov 19.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/humu.23673
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http://dx.doi.org/10.1002/humu.23673DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296902PMC
January 2019

Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia.

Hematol Oncol Clin North Am 2018 08;32(4):657-668

Department of Medicine, Division of Solid Tumor, Memorial Sloan Kettering Cancer Center, 222 70th Street Room 412, New York, NY 10021, USA; Department of Medicine, Division of Clinical Cancer Genetics, Memorial Sloan Kettering Cancer Center, 222 70th Street Room 412, New York, NY 10021, USA; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, 222 70th Street Room 412, New York, NY 10021, USA. Electronic address:

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http://dx.doi.org/10.1016/j.hoc.2018.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6071325PMC
August 2018

Mouse Homolog of the Human R337H Mutation Reveals Its Role in Tumorigenesis.

Cancer Res 2018 09 24;78(18):5375-5383. Epub 2018 Jul 24.

Cardiovascular Branch, National Heart, Lung, and Blood Institute, NIH, Bethesda, Maryland.

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http://dx.doi.org/10.1158/0008-5472.CAN-18-0016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139041PMC
September 2018

Chromosomal Aberrations and Survival after Unrelated Donor Hematopoietic Stem Cell Transplant in Patients with Fanconi Anemia.

Biol Blood Marrow Transplant 2018 10 4;24(10):2003-2008. Epub 2018 Jun 4.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland. Electronic address:

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http://dx.doi.org/10.1016/j.bbmt.2018.05.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6239962PMC
October 2018

Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita.

Blood Adv 2018 06;2(11):1243-1249

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD; and.

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http://dx.doi.org/10.1182/bloodadvances.2018016964DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5998921PMC
June 2018

Corrigendum re "Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma" [Eur Urol 2017;72:747-54].

Authors:
Mitchell J Machiela Jonathan N Hofmann Robert Carreras-Torres Kevin M Brown Mattias Johansson Zhaoming Wang Matthieu Foll Peng Li Nathaniel Rothman Sharon A Savage Valerie Gaborieau James D McKay Yuanqing Ye Marc Henrion Fiona Bruinsma Susan Jordan Gianluca Severi Kristian Hveem Lars J Vatten Tony Fletcher Kvetoslava Koppova Susanna C Larsson Alicja Wolk Rosamonde E Banks Peter J Selby Douglas F Easton Paul Pharoah Gabriella Andreotti Laura E Beane Freeman Stella Koutros Demetrius Albanes Satu Mannisto Stephanie Weinstein Peter E Clark Todd E Edwards Loren Lipworth Susan M Gapstur Victoria L Stevens Hallie Carol Matthew L Freedman Mark M Pomerantz Eunyoung Cho Peter Kraft Mark A Preston Kathryn M Wilson J Michael Gaziano Howard S Sesso Amanda Black Neal D Freedman Wen-Yi Huang John G Anema Richard J Kahnoski Brian R Lane Sabrina L Noyes David Petillo Leandro M Colli Joshua N Sampson Celine Besse Helene Blanche Anne Boland Laurie Burdette Egor Prokhortchouk Konstantin G Skryabin Meredith Yeager Mirjana Mijuskovic Miodrag Ognjanovic Lenka Foretova Ivana Holcatova Vladimir Janout Dana Mates Anush Mukeriya Stefan Rascu David Zaridze Vladimir Bencko Cezary Cybulski Eleonora Fabianova Viorel Jinga Jolanta Lissowska Jan Lubinski Marie Navratilova Peter Rudnai Neonila Szeszenia-Dabrowska Simone Benhamou Geraldine Cancel-Tassin Olivier Cussenot H B As Bueno-de-Mesquita Federico Canzian Eric J Duell Börje Ljungberg Raviprakash T Sitaram Ulrike Peters Emily White Garnet L Anderson Lisa Johnson Juhua Luo Julie Buring I-Min Lee Wong-Ho Chow Lee E Moore Christopher Wood Timothy Eisen James Larkin Toni K Choueiri G Mark Lathrop Bin Tean Teh Jean-Francois Deleuze Xifeng Wu Richard S Houlston Paul Brennan Stephen J Chanock Ghislaine Scelo Mark P Purdue

Eur Urol 2018 09 28;74(3):e85-e86. Epub 2018 May 28.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department Health and Human Services, Bethesda, MS, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03022838183036
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http://dx.doi.org/10.1016/j.eururo.2018.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7400767PMC
September 2018

Beginning at the ends: telomeres and human disease.

Authors:
Sharon A Savage

F1000Res 2018 1;7. Epub 2018 May 1.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.

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http://dx.doi.org/10.12688/f1000research.14068.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931273PMC
May 2018

Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.

Am J Med Genet A 2018 06 25;176(6):1432-1437. Epub 2018 Apr 25.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, Rockville, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38706DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992073PMC
June 2018

Pediatric leukemia susceptibility disorders: manifestations and management.

Hematology Am Soc Hematol Educ Program 2017 12;2017(1):242-250

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD.

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http://dx.doi.org/10.1182/asheducation-2017.1.242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142612PMC
December 2017

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.

Haematologica 2018 01 19;103(1):30-39. Epub 2017 Oct 19.

Biostatistics Branches, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.

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http://dx.doi.org/10.3324/haematol.2017.178111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777188PMC
January 2018

Beyond the triad: Inheritance, mucocutaneous phenotype, and mortality in a cohort of patients with dyskeratosis congenita.

J Am Acad Dermatol 2018 04 16;78(4):804-806. Epub 2017 Oct 16.

Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01909622173254
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http://dx.doi.org/10.1016/j.jaad.2017.10.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857208PMC
April 2018

Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure.

J Am Acad Dermatol 2017 Dec 21;77(6):1194-1198. Epub 2017 Oct 21.

Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2017.07.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685909PMC
December 2017

Effect of pre-analytic variables on the reproducibility of qPCR relative telomere length measurement.

PLoS One 2017 8;12(9):e0184098. Epub 2017 Sep 8.

Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), Bethesda, Maryland, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0184098PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590866PMC
October 2017

Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history.

Hum Mutat 2017 12 21;38(12):1723-1730. Epub 2017 Sep 21.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/humu.23320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858060PMC
December 2017

Pregnancies in patients with inherited bone marrow failure syndromes in the NCI cohort.

Blood 2017 10 24;130(14):1674-1676. Epub 2017 Aug 24.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, and.

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http://dx.doi.org/10.1182/blood-2017-08-802991DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630015PMC
October 2017

Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives.

Int J Mol Sci 2017 Aug 13;18(8). Epub 2017 Aug 13.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.3390/ijms18081765DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578154PMC
August 2017

Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes.

Pediatr Blood Cancer 2018 Jan 12;65(1). Epub 2017 Aug 12.

Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Rockville, Maryland.

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http://dx.doi.org/10.1002/pbc.26757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408308PMC
January 2018

Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma.

Authors:
Mitchell J Machiela Jonathan N Hofmann Robert Carreras-Torres Kevin M Brown Mattias Johansson Zhaoming Wang Matthieu Foll Peng Li Nathaniel Rothman Sharon A Savage Valerie Gaborieau James D McKay Yuanqing Ye Marc Henrion Fiona Bruinsma Susan Jordan Gianluca Severi Kristian Hveem Lars J Vatten Tony Fletcher Kvetoslava Koppova Susanna C Larsson Alicja Wolk Rosamonde E Banks Peter J Selby Douglas F Easton Paul Pharoah Gabriella Andreotti Laura E Beane Freeman Stella Koutros Demetrius Albanes Satu Mannisto Stephanie Weinstein Peter E Clark Todd E Edwards Loren Lipworth Susan M Gapstur Victoria L Stevens Hallie Carol Matthew L Freedman Mark M Pomerantz Eunyoung Cho Peter Kraft Mark A Preston Kathryn M Wilson J Michael Gaziano Howard S Sesso Amanda Black Neal D Freedman Wen-Yi Huang John G Anema Richard J Kahnoski Brian R Lane Sabrina L Noyes David Petillo Leandro M Colli Joshua N Sampson Celine Besse Helene Blanche Anne Boland Laurie Burdette Egor Prokhortchouk Konstantin G Skryabin Meredith Yeager Mirjana Mijuskovic Miodrag Ognjanovic Lenka Foretova Ivana Holcatova Vladimir Janout Dana Mates Anush Mukeriya Stefan Rascu David Zaridze Vladimir Bencko Cezary Cybulski Eleonora Fabianova Viorel Jinga Jolanta Lissowska Jan Lubinski Marie Navratilova Peter Rudnai Neonila Szeszenia-Dabrowska Simone Benhamou Geraldine Cancel-Tassin Olivier Cussenot H Bas Bueno-de-Mesquita Federico Canzian Eric J Duell Börje Ljungberg Raviprakash T Sitaram Ulrike Peters Emily White Garnet L Anderson Lisa Johnson Juhua Luo Julie Buring I-Min Lee Wong-Ho Chow Lee E Moore Christopher Wood Timothy Eisen James Larkin Toni K Choueiri G Mark Lathrop Bin Tean Teh Jean-Francois Deleuze Xifeng Wu Richard S Houlston Paul Brennan Stephen J Chanock Ghislaine Scelo Mark P Purdue

Eur Urol 2017 11 7;72(5):747-754. Epub 2017 Aug 7.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department Health and Human Services, Bethesda, MS, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03022838173063
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http://dx.doi.org/10.1016/j.eururo.2017.07.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5641242PMC
November 2017

Bone cancer: Is the osteosarcoma genome targetable?

Nat Rev Endocrinol 2017 09 4;13(9):506-508. Epub 2017 Aug 4.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 9609 Medical Center Drive, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1038/nrendo.2017.101DOI Listing
September 2017

Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort.

JAMA Oncol 2017 12;3(12):1640-1645

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, Maryland

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http://dx.doi.org/10.1001/jamaoncol.2017.1350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5824271PMC
December 2017

Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia.

Semin Hematol 2017 04 7;54(2):105-114. Epub 2017 Apr 7.

Haematology Unit, Istituto Giannina Gaslini, Genoa, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S00371963173004
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http://dx.doi.org/10.1053/j.seminhematol.2017.04.004DOI Listing
April 2017

Communication behaviors associated with successful conversation in semantic variant primary progressive aphasia.

Int Psychogeriatr 2017 10 8;29(10):1619-1632. Epub 2017 Jun 8.

NHMRC Clinical Centre of Research Excellence in Aphasia Rehabilitation,Sydney,Australia.

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http://dx.doi.org/10.1017/S1041610217000813DOI Listing
October 2017

Bone mineral density in patients with inherited bone marrow failure syndromes.

Pediatr Res 2017 Sep 31;82(3):458-464. Epub 2017 May 31.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, USA.

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http://dx.doi.org/10.1038/pr.2017.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570650PMC
September 2017

Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy.

Nat Rev Endocrinol 2017 08 24;13(8):480-491. Epub 2017 Mar 24.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 9609 Medical Center Drive, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1038/nrendo.2017.16DOI Listing
August 2017

The genomics of inherited bone marrow failure: from mechanism to the clinic.

Br J Haematol 2017 05 17;177(4):526-542. Epub 2017 Feb 17.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/bjh.14535DOI Listing
May 2017

Estimating Mutation Carrier Probability in Families with Li-Fraumeni Syndrome Using LFSPRO.

Cancer Epidemiol Biomarkers Prev 2017 06 30;26(6):837-844. Epub 2017 Jan 30.

Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, Texas.

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http://cebp.aacrjournals.org/lookup/doi/10.1158/1055-9965.EP
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http://dx.doi.org/10.1158/1055-9965.EPI-16-0695DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457344PMC
June 2017

On the nose: Olfactory disturbances in patients with transient epileptic amnesia.

Epilepsy Behav 2017 01 28;66:113-119. Epub 2016 Dec 28.

Cognitive & Behavioural Neurology, University of Exeter Medical School, College House, St Luke's Campus, Exeter EX1 2LU, UK.

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http://dx.doi.org/10.1016/j.yebeh.2016.09.043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197428PMC
January 2017

Transient Epileptic Amnesia over twenty years: Long-term follow-up of a case series with three detailed reports.

Seizure 2016 Dec 14;43:48-55. Epub 2016 Nov 14.

Cognitive & Behavioural Neurology, University of Exeter Medical School, College House, St. Luke's Campus, Exeter EX1 2LU, UK.

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http://dx.doi.org/10.1016/j.seizure.2016.10.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6161809PMC
December 2016

Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.

Am J Hematol 2016 12 4;91(12):1215-1220. Epub 2016 Nov 4.

Molecular and Cellular Pharmacology Group, Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1002/ajh.24545DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7466628PMC
December 2016

Successful short-term re-learning and generalisation of concepts in semantic dementia.

Neuropsychol Rehabil 2018 Oct 28;28(7):1095-1109. Epub 2016 Sep 28.

e Department of Neuropsychology , National Hospital for Neurology and Neurosurgery , London , UK.

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http://dx.doi.org/10.1080/09602011.2016.1234399DOI Listing
October 2018

Relationship between plasma 25-hydroxyvitamin D and leucocyte telomere length by sex and race in a US study.

Br J Nutr 2016 09 12;116(6):953-60. Epub 2016 Aug 12.

1Division of Cancer Epidemiology and Genetics,National Cancer Institute,National Institutes of Health,Rockville,MD 20850,USA.

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http://dx.doi.org/10.1017/S0007114516002075DOI Listing
September 2016

Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort.

Cancer 2016 Dec 6;122(23):3673-3681. Epub 2016 Aug 6.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/cncr.30248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5115949PMC
December 2016

The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita.

Mol Genet Genomic Med 2016 Jul 20;4(4):475-9. Epub 2016 Mar 20.

Clinical Genetics Branch Division of Cancer Epidemiology and Genetics National Cancer Institute, National Institutes of Health 9609 Medical Center Drive Rockville Maryland 20850.

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http://dx.doi.org/10.1002/mgg3.220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947866PMC
July 2016

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.

Authors:
Mitchell J Machiela Weiyin Zhou Eric Karlins Joshua N Sampson Neal D Freedman Qi Yang Belynda Hicks Casey Dagnall Christopher Hautman Kevin B Jacobs Christian C Abnet Melinda C Aldrich Christopher Amos Laufey T Amundadottir Alan A Arslan Laura E Beane-Freeman Sonja I Berndt Amanda Black William J Blot Cathryn H Bock Paige M Bracci Louise A Brinton H Bas Bueno-de-Mesquita Laurie Burdett Julie E Buring Mary A Butler Federico Canzian Tania Carreón Kari G Chaffee I-Shou Chang Nilanjan Chatterjee Chu Chen Constance Chen Kexin Chen Charles C Chung Linda S Cook Marta Crous Bou Michael Cullen Faith G Davis Immaculata De Vivo Ti Ding Jennifer Doherty Eric J Duell Caroline G Epstein Jin-Hu Fan Jonine D Figueroa Joseph F Fraumeni Christine M Friedenreich Charles S Fuchs Steven Gallinger Yu-Tang Gao Susan M Gapstur Montserrat Garcia-Closas Mia M Gaudet J Michael Gaziano Graham G Giles Elizabeth M Gillanders Edward L Giovannucci Lynn Goldin Alisa M Goldstein Christopher A Haiman Goran Hallmans Susan E Hankinson Curtis C Harris Roger Henriksson Elizabeth A Holly Yun-Chul Hong Robert N Hoover Chao A Hsiung Nan Hu Wei Hu David J Hunter Amy Hutchinson Mazda Jenab Christoffer Johansen Kay-Tee Khaw Hee Nam Kim Yeul Hong Kim Young Tae Kim Alison P Klein Robert Klein Woon-Puay Koh Laurence N Kolonel Charles Kooperberg Peter Kraft Vittorio Krogh Robert C Kurtz Andrea LaCroix Qing Lan Maria Teresa Landi Loic Le Marchand Donghui Li Xiaolin Liang Linda M Liao Dongxin Lin Jianjun Liu Jolanta Lissowska Lingeng Lu Anthony M Magliocco Nuria Malats Keitaro Matsuo Lorna H McNeill Robert R McWilliams Beatrice S Melin Lisa Mirabello Lee Moore Sara H Olson Irene Orlow Jae Yong Park Ana Patiño-Garcia Beata Peplonska Ulrike Peters Gloria M Petersen Loreall Pooler Jennifer Prescott Ludmila Prokunina-Olsson Mark P Purdue You-Lin Qiao Preetha Rajaraman Francisco X Real Elio Riboli Harvey A Risch Benjamin Rodriguez-Santiago Avima M Ruder Sharon A Savage Fredrick Schumacher Ann G Schwartz Kendra L Schwartz Adeline Seow Veronica Wendy Setiawan Gianluca Severi Hongbing Shen Xin Sheng Min-Ho Shin Xiao-Ou Shu Debra T Silverman Margaret R Spitz Victoria L Stevens Rachael Stolzenberg-Solomon Daniel Stram Ze-Zhong Tang Philip R Taylor Lauren R Teras Geoffrey S Tobias David Van Den Berg Kala Visvanathan Sholom Wacholder Jiu-Cun Wang Zhaoming Wang Nicolas Wentzensen William Wheeler Emily White John K Wiencke Brian M Wolpin Maria Pik Wong Chen Wu Tangchun Wu Xifeng Wu Yi-Long Wu Jay S Wunder Lucy Xia Hannah P Yang Pan-Chyr Yang Kai Yu Krista A Zanetti Anne Zeleniuch-Jacquotte Wei Zheng Baosen Zhou Regina G Ziegler Luis A Perez-Jurado Neil E Caporaso Nathaniel Rothman Margaret Tucker Michael C Dean Meredith Yeager Stephen J Chanock

Nat Commun 2016 06 13;7:11843. Epub 2016 Jun 13.

Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.

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June 2016

Research participant interest in primary, secondary, and incidental genomic findings.

Genet Med 2016 12 21;18(12):1218-1225. Epub 2016 Apr 21.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2016.36DOI Listing
December 2016

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.

Pediatr Neurol 2016 Mar 19;56:62-68.e1. Epub 2015 Dec 19.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789174PMC
March 2016

Neonatal manifestations of inherited bone marrow failure syndromes.

Semin Fetal Neonatal Med 2016 Feb 24;21(1):57-65. Epub 2015 Dec 24.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747853PMC
February 2016

Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome.

J Genet Couns 2016 06 30;25(3):529-42. Epub 2015 Nov 30.

Clinical Genetics Branch (CGB), Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), NIH, DHHS, Rockville, MD, USA.

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June 2016

Novel FANCI mutations in Fanconi anemia with VACTERL association.

Am J Med Genet A 2016 Feb 21;170A(2):386-391. Epub 2015 Nov 21.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7158112PMC
February 2016

The Biomarkers of Exposure and Effect in Agriculture (BEEA) Study: Rationale, Design, Methods, and Participant Characteristics.

J Toxicol Environ Health A 2015 9;78(21-22):1338-47. Epub 2015 Nov 9.

a Occupational and Environmental Epidemiology Branch, Division of Cancer Epidemiology and Genetics , National Cancer Institute , Bethesda , Maryland , USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4674328PMC
March 2016

Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types.

Authors:
Joshua N Sampson William A Wheeler Meredith Yeager Orestis Panagiotou Zhaoming Wang Sonja I Berndt Qing Lan Christian C Abnet Laufey T Amundadottir Jonine D Figueroa Maria Teresa Landi Lisa Mirabello Sharon A Savage Philip R Taylor Immaculata De Vivo Katherine A McGlynn Mark P Purdue Preetha Rajaraman Hans-Olov Adami Anders Ahlbom Demetrius Albanes Maria Fernanda Amary She-Juan An Ulrika Andersson Gerald Andriole Irene L Andrulis Emanuele Angelucci Stephen M Ansell Cecilia Arici Bruce K Armstrong Alan A Arslan Melissa A Austin Dalsu Baris Donald A Barkauskas Bryan A Bassig Nikolaus Becker Yolanda Benavente Simone Benhamou Christine Berg David Van Den Berg Leslie Bernstein Kimberly A Bertrand Brenda M Birmann Amanda Black Heiner Boeing Paolo Boffetta Marie-Christine Boutron-Ruault Paige M Bracci Louise Brinton Angela R Brooks-Wilson H Bas Bueno-de-Mesquita Laurie Burdett Julie Buring Mary Ann Butler Qiuyin Cai Geraldine Cancel-Tassin Federico Canzian Alfredo Carrato Tania Carreon Angela Carta John K C Chan Ellen T Chang Gee-Chen Chang I-Shou Chang Jiang Chang Jenny Chang-Claude Chien-Jen Chen Chih-Yi Chen Chu Chen Chung-Hsing Chen Constance Chen Hongyan Chen Kexin Chen Kuan-Yu Chen Kun-Chieh Chen Ying Chen Ying-Hsiang Chen Yi-Song Chen Yuh-Min Chen Li-Hsin Chien María-Dolores Chirlaque Jin Eun Choi Yi Young Choi Wong-Ho Chow Charles C Chung Jacqueline Clavel Françoise Clavel-Chapelon Pierluigi Cocco Joanne S Colt Eva Comperat Lucia Conde Joseph M Connors David Conti Victoria K Cortessis Michelle Cotterchio Wendy Cozen Simon Crouch Marta Crous-Bou Olivier Cussenot Faith G Davis Ti Ding W Ryan Diver Miren Dorronsoro Laure Dossus Eric J Duell Maria Grazia Ennas Ralph L Erickson Maria Feychting Adrienne M Flanagan Lenka Foretova Joseph F Fraumeni Neal D Freedman Laura E Beane Freeman Charles Fuchs Manuela Gago-Dominguez Steven Gallinger Yu-Tang Gao Susan M Gapstur Montserrat Garcia-Closas Reina García-Closas Randy D Gascoyne Julie Gastier-Foster Mia M Gaudet J Michael Gaziano Carol Giffen Graham G Giles Edward Giovannucci Bengt Glimelius Michael Goggins Nalan Gokgoz Alisa M Goldstein Richard Gorlick Myron Gross Robert Grubb Jian Gu Peng Guan Marc Gunter Huan Guo Thomas M Habermann Christopher A Haiman Dina Halai Goran Hallmans Manal Hassan Claudia Hattinger Qincheng He Xingzhou He Kathy Helzlsouer Brian Henderson Roger Henriksson Henrik Hjalgrim Judith Hoffman-Bolton Chancellor Hohensee Theodore R Holford Elizabeth A Holly Yun-Chul Hong Robert N Hoover Pamela L Horn-Ross G M Monawar Hosain H Dean Hosgood Chin-Fu Hsiao Nan Hu Wei Hu Zhibin Hu Ming-Shyan Huang Jose-Maria Huerta Jen-Yu Hung Amy Hutchinson Peter D Inskip Rebecca D Jackson Eric J Jacobs Mazda Jenab Hyo-Sung Jeon Bu-Tian Ji Guangfu Jin Li Jin Christoffer Johansen Alison Johnson Yoo Jin Jung Rudolph Kaaks Aruna Kamineni Eleanor Kane Chang Hyun Kang Margaret R Karagas Rachel S Kelly Kay-Tee Khaw Christopher Kim Hee Nam Kim Jin Hee Kim Jun Suk Kim Yeul Hong Kim Young Tae Kim Young-Chul Kim Cari M Kitahara Alison P Klein Robert J Klein Manolis Kogevinas Takashi Kohno Laurence N Kolonel Charles Kooperberg Anne Kricker Vittorio Krogh Hideo Kunitoh Robert C Kurtz Sun-Seog Kweon Andrea LaCroix Charles Lawrence Fernando Lecanda Victor Ho Fun Lee Donghui Li Haixin Li Jihua Li Yao-Jen Li Yuqing Li Linda M Liao Mark Liebow Tracy Lightfoot Wei-Yen Lim Chien-Chung Lin Dongxin Lin Sara Lindstrom Martha S Linet Brian K Link Chenwei Liu Jianjun Liu Li Liu Börje Ljungberg Josep Lloreta Simonetta Di Lollo Daru Lu Eiluv Lund Nuria Malats Satu Mannisto Loic Le Marchand Neyssa Marina Giovanna Masala Giuseppe Mastrangelo Keitaro Matsuo Marc Maynadie James McKay Roberta McKean-Cowdin Mads Melbye Beatrice S Melin Dominique S Michaud Tetsuya Mitsudomi Alain Monnereau Rebecca Montalvan Lee E Moore Lotte Maxild Mortensen Alexandra Nieters Kari E North Anne J Novak Ann L Oberg Kenneth Offit In-Jae Oh Sara H Olson Domenico Palli William Pao In Kyu Park Jae Yong Park Kyong Hwa Park Ana Patiño-Garcia Sofia Pavanello Petra H M Peeters Reury-Perng Perng Ulrike Peters Gloria M Petersen Piero Picci Malcolm C Pike Stefano Porru Jennifer Prescott Ludmila Prokunina-Olsson Biyun Qian You-Lin Qiao Marco Rais Elio Riboli Jacques Riby Harvey A Risch Cosmeri Rizzato Rebecca Rodabough Eve Roman Morgan Roupret Avima M Ruder Silvia de Sanjose Ghislaine Scelo Alan Schned Fredrick Schumacher Kendra Schwartz Molly Schwenn Katia Scotlandi Adeline Seow Consol Serra Massimo Serra Howard D Sesso Veronica Wendy Setiawan Gianluca Severi Richard K Severson Tait D Shanafelt Hongbing Shen Wei Shen Min-Ho Shin Kouya Shiraishi Xiao-Ou Shu Afshan Siddiq Luis Sierrasesúmaga Alan Dart Loon Sihoe Christine F Skibola Alex Smith Martyn T Smith Melissa C Southey John J Spinelli Anthony Staines Meir Stampfer Marianna C Stern Victoria L Stevens Rachael S Stolzenberg-Solomon Jian Su Wu-Chou Su Malin Sund Jae Sook Sung Sook Whan Sung Wen Tan Wei Tang Adonina Tardón David Thomas Carrie A Thompson Lesley F Tinker Roberto Tirabosco Anne Tjønneland Ruth C Travis Dimitrios Trichopoulos Fang-Yu Tsai Ying-Huang Tsai Margaret Tucker Jenny Turner Claire M Vajdic Roel C H Vermeulen Danylo J Villano Paolo Vineis Jarmo Virtamo Kala Visvanathan Jean Wactawski-Wende Chaoyu Wang Chih-Liang Wang Jiu-Cun Wang Junwen Wang Fusheng Wei Elisabete Weiderpass George J Weiner Stephanie Weinstein Nicolas Wentzensen Emily White Thomas E Witzig Brian M Wolpin Maria Pik Wong Chen Wu Guoping Wu Junjie Wu Tangchun Wu Wei Wu Xifeng Wu Yi-Long Wu Jay S Wunder Yong-Bing Xiang Jun Xu Ping Xu Pan-Chyr Yang Tsung-Ying Yang Yuanqing Ye Zhihua Yin Jun Yokota Ho-Il Yoon Chong-Jen Yu Herbert Yu Kai Yu Jian-Min Yuan Andrew Zelenetz Anne Zeleniuch-Jacquotte Xu-Chao Zhang Yawei Zhang Xueying Zhao Zhenhong Zhao Hong Zheng Tongzhang Zheng Wei Zheng Baosen Zhou Meng Zhu Mariagrazia Zucca Simina M Boca James R Cerhan Giovanni M Ferri Patricia Hartge Chao Agnes Hsiung Corrado Magnani Lucia Miligi Lindsay M Morton Karin E Smedby Lauren R Teras Joseph Vijai Sophia S Wang Paul Brennan Neil E Caporaso David J Hunter Peter Kraft Nathaniel Rothman Debra T Silverman Susan L Slager Stephen J Chanock Nilanjan Chatterjee

J Natl Cancer Inst 2015 Dec 12;107(12):djv279. Epub 2015 Oct 12.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD (JNS, OP, SIB, QL, CCA, LTA, JDF, MTL, LM, SAS, PRT, KAM, PR, DA, DB, BAB, AB, LBr, WHC, CCC, JSC, JFFJr, NDF, LEBF, MGC, AMG, RNH, NH, WH, PDI, BTJ, CK, CMK, LML, MSL, LEM, LPO, RSSS, WeiT, MT, CWa, SW, NW, KY, PH, LMM, NEC, NR, DTS, SJC, NC); Information Management Services, Silver Spring, MD (WAW, CG); Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Gaithersburg, MD (MY, ZW, LBu, AH, CLi); Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA (IDV, KAB, BMB, CoC, MCB, CF, EG, SL, JP, MSt, DJH); Department of Epidemiology, Harvard School of Public Health, Boston, MA (IDV, OA, KAB, CoC, MCB, EG, RSK, SL, JP, HDS, MSt, DTr, DJH, PK); Ontario Health Study, Toronto, Ontario, Canada (MPP); Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden (HOA, EWe); Unit of Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden (AA, MF); UCL Cancer Institute, London, UK (MFA, AMF, DH); Royal National Orthopaedic Hospital NHS Trust, Stanmore, Middlesex, UK (MFA, AMF, DH, RT); Guangdong Lung Cancer Institute, Guangdong Provincial Key Laboratory of Translational Medicine in Lung Cancer, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China (SJA, JS, YLW, XCZ); Department of Radiation Sciences, Oncology, Umea University, Umea, Sweden (UA, RH, BSM); Division of Urologic Surgery, Washington University School of Medicine, Saint Louis, MO (GAJr, RGIII); Litwin Centre for Cancer Genetics, University of Toronto, Ontario, Canada (ILA, NG, JSW); Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada (ILA, SG, NG, JSW); Hematology Unit, Ospedale Oncologico di Riferimento Regionale A. Businco, Cagliari, Italy (EA); Department of Medicin

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December 2015

Pesticide Use and Relative Leukocyte Telomere Length in the Agricultural Health Study.

PLoS One 2015 21;10(7):e0133382. Epub 2015 Jul 21.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510132PMC
May 2016

Immune status of patients with inherited bone marrow failure syndromes.

Am J Hematol 2015 Aug 28;90(8):702-8. Epub 2015 May 28.

Division of Infectious Diseases, Department of Medicine, Human Papillomavirus Immunology Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland.

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http://dx.doi.org/10.1002/ajh.24046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4509864PMC
August 2015

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.

Br J Haematol 2015 Aug 4;170(4):457-71. Epub 2015 May 4.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526362PMC
August 2015

Germline TP53 variants and susceptibility to osteosarcoma.

J Natl Cancer Inst 2015 Jul 20;107(7). Epub 2015 Apr 20.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD (LM, PLM, SJC, SAS); Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD (MY, XZ, AV, KJ, JFB); Nationwide Children's Hospital and The Ohio State University Department of Pathology and Pediatrics, Columbus, OH (JMGF); Albert Einstein College of Medicine, The Children's Hospital at Montefiore, Bronx, NY (RG); Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD (CK); Department Of Pediatrics, University Clinic of Navarra, Universidad de Navarra, Pamplona, Spain (APG, LS, FL); University of Toronto, Litwin Centre for Cancer Genetics, Lunenfeld Tanenbaum Research Institute, Mt Sinai Hospital, Toronto, Ontario, Canada (ILA, JSW, NG); Department of Preventive Medicine, Keck School of Medicine of the University of Southern California, Los Angeles, CA (DAB).

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July 2015