Leslie G Biesecker

Leslie G Biesecker

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Leslie G Biesecker

Leslie G Biesecker

Publications by authors named "Leslie G Biesecker"

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97Publications

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Ethnic identity and engagement with genome sequencing research.

Genet Med 2019 Aug 20;21(8):1735-1743. Epub 2018 Dec 20.

Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41436-018-0410-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6586548PMC
August 2019

Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes.

Cold Spring Harb Mol Case Stud 2019 Aug 1;5(4). Epub 2019 Aug 1.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1101/mcs.a004036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672027PMC
August 2019

Generation of human induced pluripotent stem cells from individuals with a homozygous CCR5Δ32 mutation.

Stem Cell Res 2019 Jul 5;38:101481. Epub 2019 Jun 5.

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6662727PMC
July 2019

A mouse model of Proteus syndrome.

Hum Mol Genet 2019 Jun 13. Epub 2019 Jun 13.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1093/hmg/ddz116DOI Listing
June 2019

Response to Esplin et al.

Genet Med 2019 05 4;21(5):1252-1253. Epub 2018 Oct 4.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41436-018-0303-2DOI Listing
May 2019

Health behaviors among unaffected participants following receipt of variants of uncertain significance in cardiomyopathy-associated genes.

Genet Med 2019 03 12;21(3):748-752. Epub 2018 Jul 12.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/s41436-018-0083-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330155PMC
March 2019

Response to Mendelsohn and Sabbadini.

Genet Med 2019 03 19;21(3):763. Epub 2018 Jul 19.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/s41436-018-0134-1DOI Listing
March 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

DENND5B Regulates Intestinal Triglyceride Absorption and Body Mass.

Sci Rep 2019 Mar 5;9(1):3597. Epub 2019 Mar 5.

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, NIH, Bethesda, Maryland, 20892, USA.

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http://dx.doi.org/10.1038/s41598-019-40296-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6401118PMC
March 2019

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.

Cell 2019 Mar;177(1):32-37

Faculty of Health and Medical Sciences, University of Western Australia Medical School, Perth, WA, Australia; Western Australian Register of Developmental Anomalies, Genetic Services of Western Australia, Perth, WA, Australia; Office of Population Health Genomics, Western Australian Department of Health, Perth, WA, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S00928674193022
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http://dx.doi.org/10.1016/j.cell.2019.02.040DOI Listing
March 2019

Secondary findings in exome slices, virtual panels, and anticipatory sequencing.

Genet Med 2019 01 22;21(1):41-43. Epub 2018 May 22.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/s41436-018-0019-3DOI Listing
January 2019

Response to Nakaguma et al.

Genet Med 2019 01 30;21(1):261. Epub 2018 Jun 30.

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://www.nature.com/articles/s41436-018-0042-4
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http://dx.doi.org/10.1038/s41436-018-0042-4DOI Listing
January 2019

The ACMG/AMP reputable source criteria for the interpretation of sequence variants.

Genet Med 2018 12;20(12):1687-1688

Partners HealthCare Laboratory for Molecular Medicine and Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2018.42DOI Listing
December 2018

Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome.

Am J Med Genet A 2018 12 22;176(12):2677-2684. Epub 2018 Oct 22.

Liver Diseases Branch, National Institute of Diabetes & Digestive & Kidney Diseases, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.40636DOI Listing
December 2018

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

Am J Hum Genet 2018 12 15;103(6):976-983. Epub 2018 Nov 15.

Department of Ophthalmology, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Clinical Medicine, University of Bergen, N-5021 Bergen, Norway.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
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http://dx.doi.org/10.1016/j.ajhg.2018.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288050PMC
December 2018

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.

Hum Mutat 2018 11 7;39(11):1517-1524. Epub 2018 Sep 7.

Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.

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http://dx.doi.org/10.1002/humu.23626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6185798PMC
November 2018

Updated recommendation for the benign stand-alone ACMG/AMP criterion.

Hum Mutat 2018 11;39(11):1525-1530

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/humu.23642DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6188666PMC
November 2018

Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition.

JAMA 2018 Nov;320(18):1929-1930

Center for Genomic Medicine, Massachusetts General Hospital, Boston.

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http://jama.jamanetwork.com/article.aspx?doi=10.1001/jama.20
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http://dx.doi.org/10.1001/jama.2018.14900DOI Listing
November 2018

Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS).

Genet Med 2018 09 4;20(9):1077-1081. Epub 2018 Jan 4.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2017.228DOI Listing
September 2018

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.

Genet Med 2018 09 4;20(9):1054-1060. Epub 2018 Jan 4.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2017.210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336098PMC
September 2018

Mosaic disorders and the Taxonomy of Human Disease.

Genet Med 2018 08 7;20(8):800-801. Epub 2017 Dec 7.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2017.213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992089PMC
August 2018

Web-Based Platform vs Genetic Counselors in Educating Patients About Carrier Results From Exome Sequencing-Reply.

JAMA Intern Med 2018 07;178(7):999

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1001/jamainternmed.2018.2236DOI Listing
July 2018

Ability of Patients to Distinguish Among Cardiac Genomic Variant Subclassifications.

Circ Genom Precis Med 2018 06;11(6):e001975

Division of Cancer Control and Population Sciences, National Cancer Institute (W.M.P.K.).

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http://dx.doi.org/10.1161/CIRCGEN.117.001975DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986092PMC
June 2018

Intentions to share exome sequencing results with family members: exploring spousal beliefs and attitudes.

Eur J Hum Genet 2018 05 23;26(5):735-739. Epub 2018 Feb 23.

Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41431-018-0118-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945607PMC
May 2018

A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number.

Genet Med 2018 04 21;20(5):503-512. Epub 2017 Sep 21.

Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://www.nature.com/doifinder/10.1038/gim.2017.136
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http://dx.doi.org/10.1038/gim.2017.136DOI Listing
April 2018

Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndrome.

J Am Acad Dermatol 2018 04 16;78(4):725-732. Epub 2017 Oct 16.

Department of Dermatology, Uniformed Services University of the Health Sciences, 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.2017.10.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857242PMC
April 2018

Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial.

Am J Hum Genet 2018 04 8;102(4):540-546. Epub 2018 Mar 8.

Social and Behavioral Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985358PMC
April 2018

Myths and Misdiagnoses of Proteus Syndrome.

Asian J Anesthesiol 2018 03;56(1):41-41

National Human Genome Research Institute, Bethesda, MD, USA.

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http://dx.doi.org/10.6859/aja.201803_56(1).0006DOI Listing
March 2018

Genomic screening for monogenic forms of diabetes.

BMC Med 2018 02 20;16(1):25. Epub 2018 Feb 20.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1186/s12916-018-1012-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819280PMC
February 2018

Characterization of thrombosis in patients with Proteus syndrome.

Am J Med Genet A 2017 Sep 19;173(9):2359-2365. Epub 2017 Jun 19.

Medical Genomics Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592090PMC
September 2017

A taxonomy of medical uncertainties in clinical genome sequencing.

Genet Med 2017 08 19;19(8):918-925. Epub 2017 Jan 19.

Social and Behavioral Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2016.212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517355PMC
August 2017

Compound heterozygous alterations in intraflagellar transport protein in a child with a novel Joubert and oral-facial-digital overlap syndrome.

Cold Spring Harb Mol Case Stud 2017 07 5;3(4). Epub 2017 Jul 5.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.

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http://dx.doi.org/10.1101/mcs.a001321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495032PMC
July 2017

ACMG secondary findings 2.0.

Genet Med 2017 05 13;19(5):604. Epub 2017 Apr 13.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2017.27DOI Listing
May 2017

Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.

Genet Med 2017 03 18;19(3):357-361. Epub 2016 Aug 18.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://www.nature.com/articles/gim2016105
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http://dx.doi.org/10.1038/gim.2016.105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5316383PMC
March 2017

Engagement and communication among participants in the ClinSeq Genomic Sequencing Study.

Genet Med 2017 01 20;19(1):98-103. Epub 2016 Oct 20.

Genetics Services Research Unit, Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2016.71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5225070PMC
January 2017

Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.

Dermatol Clin 2017 Jan;35(1):51-60

Department of Dermatology, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Bethesda, MD 20814, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S07338635163007
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http://dx.doi.org/10.1016/j.det.2016.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5130114PMC
January 2017

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

Am J Hum Genet 2016 Nov 13;99(5):1034-1044. Epub 2016 Oct 13.

The National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.08.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097944PMC
November 2016

Family functioning mediates adaptation in caregivers of individuals with Rett syndrome.

Patient Educ Couns 2016 11 18;99(11):1873-1879. Epub 2016 Jun 18.

Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, 31 Center Dr. Rm. B1B36, Bethesda, MD, 20814, USA; Health, Behavior, and Society, Johns Hopkins Bloomberg School of Public Health, Baltimore, USA.

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http://dx.doi.org/10.1016/j.pec.2016.06.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097876PMC
November 2016

GAUDEAMUS IGITUR…In gratitude to John Carey for his stewardship of the American Journal of Medical Genetics 2001-2016.

Am J Med Genet A 2016 Oct 19;170(10):2501-2. Epub 2016 Aug 19.

Department of Pediatrics, Academic Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37760DOI Listing
October 2016

Somatic AKT1 mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis.

Am J Med Genet A 2016 10 23;170(10):2605-10. Epub 2016 Aug 23.

Medical Genomics and Metabolic Genetics Branch, National Human Genetics Research Branch, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37737DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580816PMC
October 2016

Assessing the reproducibility of exome copy number variations predictions.

Genome Med 2016 08 8;8(1):82. Epub 2016 Aug 8.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1186/s13073-016-0336-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4976506PMC
August 2016

Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome.

PLoS One 2015 16;10(10):e0140705. Epub 2015 Oct 16.

Metabolic Genetics and Molecular Genomics Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0140705PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608820PMC
June 2016

Participant use and communication of findings from exome sequencing: a mixed-methods study.

Genet Med 2016 06 5;18(6):577-83. Epub 2015 Nov 5.

Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2015.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4860179PMC
June 2016

Lack of mutation-histopathology correlation in a patient with Proteus syndrome.

Am J Med Genet A 2016 06 26;170(6):1422-1432. Epub 2016 Apr 26.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042707PMC
June 2016

Long QT Syndrome and Potentially Pathogenic Genetic Variants.

JAMA 2016 Jun;315(22):2467

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1001/jama.2016.2918DOI Listing
June 2016

Characterizing Participants in the ClinSeq Genome Sequencing Cohort as Early Adopters of a New Health Technology.

PLoS One 2015 17;10(7):e0132690. Epub 2015 Jul 17.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America; Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0132690PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4506048PMC
May 2016

Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants.

Clin Chem 2016 Apr 4;62(4):647-54. Epub 2016 Feb 4.

National Human Genome Research Institute, NIH, Bethesda, MD;

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http://dx.doi.org/10.1373/clinchem.2015.249623DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4878677PMC
April 2016

Overcalling secondary findings.

Genet Med 2016 Apr 17;18(4):416. Epub 2016 Mar 17.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2016.19DOI Listing
April 2016

Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.

Hum Genome Var 2016 4;3:15069. Epub 2016 Feb 4.

Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health , Bethesda, MD, USA.

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http://dx.doi.org/10.1038/hgv.2015.69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760119PMC
April 2016

Scrutinizing the Right Not to Know.

Am J Bioeth 2015 ;15(7):17-9

a National Institutes of Health.

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http://dx.doi.org/10.1080/15265161.2015.1039733DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126362PMC
February 2016

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

Genet Med 2016 Jan 12;18(1):41-8. Epub 2015 Mar 12.

Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2015.25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486368PMC
January 2016

Genomic medicine in the military.

NPJ Genom Med 2016 13;1:15008. Epub 2016 Jan 13.

Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Partners Personalized Medicine, Broad Institute and Harvard Medical School, Boston, MA, USA.

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http://www.nature.com/articles/npjgenmed20158
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http://dx.doi.org/10.1038/npjgenmed.2015.8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685294PMC
January 2016

A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness.

Eur J Hum Genet 2016 01 19;25(1):147-149. Epub 2016 Oct 19.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/ejhg.2016.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5159773PMC
January 2016

Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome.

Sci Rep 2015 Dec 11;5:17162. Epub 2015 Dec 11.

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/srep17162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4675973PMC
December 2015

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Am J Med Genet A 2015 Sep 29;167A(9):2122-31. Epub 2015 Apr 29.

Medical Genetics Institute, Cedars Sinai Medical Center, Division of Medical Genetics, Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California.

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http://doi.wiley.com/10.1002/ajmg.a.37131
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http://dx.doi.org/10.1002/ajmg.a.37131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760347PMC
September 2015

Information Avoidance Tendencies, Threat Management Resources, and Interest in Genetic Sequencing Feedback.

Ann Behav Med 2015 Aug;49(4):616-21

National Cancer Institute, National Institutes of Health, 9609 Medical Center Drive, Room 3E642, Bethesda, MD, 20892-9761, USA,

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http://dx.doi.org/10.1007/s12160-014-9679-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498968PMC
August 2015

Response to Nogales-Gadea et al.

Genet Med 2015 Aug;17(8):680-1

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Betheseda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2015.80DOI Listing
August 2015

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Genome Res 2015 Mar 30;25(3):305-15. Epub 2015 Jan 30.

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;

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http://dx.doi.org/10.1101/gr.183483.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352885PMC
March 2015