David B Goldstein

David B Goldstein

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David B Goldstein

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Rare-variant collapsing analyses for complex traits: guidelines and applications.

Nat Rev Genet 2019 Dec 11;20(12):747-759. Epub 2019 Oct 11.

Institute for Genomic Medicine, Columbia University Irving Medical Center, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1038/s41576-019-0177-4DOI Listing
December 2019

Sudden unexpected death in asymptomatic infants due to PPA2 variants.

Mol Genet Genomic Med 2019 Nov 9:e1008. Epub 2019 Nov 9.

Department of Neurology, New York University School of Medicine, New York, NY, USA.

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http://dx.doi.org/10.1002/mgg3.1008DOI Listing
November 2019

The "All of Us" Research Program.

N Engl J Med 2019 08;381(7):668-676

From the Departments of Biomedical Informatics and Medicine, Vanderbilt University Medical Center, Nashville (J.C.D.); the National Center for Advancing Translational Sciences (J.L.R.) and the All of Us Research Program (G.J., E.D.), National Institutes of Health, Bethesda, MD; the Institute for Genomic Medicine and Department of Neurology, Columbia University Irving Medical Center, New York (D.B.G.); and the Broad Institute, Cambridge (A.P., J.W.S.), and the Center for Genomic Medicine and Department of Psychiatry, Massachusetts General Hospital, Boston (J.W.S.) - both in Massachusetts.

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http://dx.doi.org/10.1056/NEJMsr1809937DOI Listing
August 2019

Modification of the disease phenotype by a mutation in .

Ophthalmic Genet 2019 Aug 6;40(4):369-375. Epub 2019 Sep 6.

Department of Ophthalmology, Columbia University , New York , New York , USA.

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http://dx.doi.org/10.1080/13816810.2019.1660382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777736PMC
August 2019

Precision Medicine in Internal Medicine.

Ann Intern Med 2019 May 30;170(9):635-642. Epub 2019 Apr 30.

College of Physicians and Surgeons, Columbia University, New York, New York (K.K., D.B.G., A.G.G., R.W., W.K.C.).

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http://dx.doi.org/10.7326/M18-0425DOI Listing
May 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

Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance.

Am J Hum Genet 2019 02 24;104(2):299-309. Epub 2019 Jan 24.

Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Division of Integrative Genomics, Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27710, USA; Duke Center for Statistical Genetics and Genomics, Duke University, Durham, NC 27710, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369453PMC
February 2019

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.

Lancet 2019 02 31;393(10173):758-767. Epub 2019 Jan 31.

Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(18)32042-7DOI Listing
February 2019

Phenotype variability in Hajdu-Cheney syndrome.

Eur J Med Genet 2019 Jan 23;62(1):35-38. Epub 2018 Apr 23.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.04.015DOI Listing
January 2019

Diagnostic Utility of Exome Sequencing for Kidney Disease.

N Engl J Med 2019 01 26;380(2):142-151. Epub 2018 Dec 26.

From the Departments of Medicine (E.E.G., M.M., H.M.-R., Y.L., J.Z., J.N., P.K., W.Y.L., A.M., S. Piva, B.H.K., D.C., R.R., D.B., M.D., H.S., X.M., K.M., O.B., J.R., P.C., G.B.A., A.S.B., W.A., D.J.C., R.J.C., G.K.D., M.K.R., S.M., S.S.-C., K.K., A.G.G.) and Pediatrics (N.S.U.), Division of Nephrology, the Departments of Pathology (V.S.A.), Biomedical Informatics (D.A.F., C.W.), and Urology (S.A.), the Institute for Genomic Medicine (S.K., B.C., Z.R., J.B., C.D.M., C.M.M., N.D., D.B.G., A.G.G.) and the Department of Genetics and Development (D.B.G.), Hammer Health Sciences, and the Department of Epidemiology, Mailman School of Public Health (S.M.), Columbia University, New York; AstraZeneca Centre for Genomics Research, Precision Medicine and Genomics, Innovative Medicines and Early Development (IMED) Biotech Unit, Cambridge, United Kingdom (S.C.-C., S. Petrovski, C.H., J.F., R.M., A.P.); and the Department of Medical Science, Renal Unit, Uppsala University Hospital, Uppsala, Sweden (B.C.F.).

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http://www.nejm.org/doi/10.1056/NEJMoa1806891
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http://dx.doi.org/10.1056/NEJMoa1806891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6510541PMC
January 2019

Whole-Exome Sequencing Study of Extreme Phenotypes of NAFLD.

Hepatol Commun 2018 Sep 5;2(9):1021-1029. Epub 2018 Sep 5.

Division of Gastroenterology Duke University Health System Durham NC.

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http://doi.wiley.com/10.1002/hep4.1227
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http://dx.doi.org/10.1002/hep4.1227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128233PMC
September 2018

Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.

Ann Clin Transl Neurol 2018 Jul 24;5(7):832-842. Epub 2018 May 24.

The Taub Institute for Research on Alzheimer's Disease and the Aging Brain College of Physicians and Surgeons Columbia University The New York Presbyterian Hospital New York New York.

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http://dx.doi.org/10.1002/acn3.582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043775PMC
July 2018

Drug development in the era of precision medicine.

Nat Rev Drug Discov 2018 03 8;17(3):183-196. Epub 2017 Dec 8.

Institute for Genomic Medicine, Columbia University Medical Center, Hammer Health Sciences, 1408, 701 West 168th Street, New York, New York 10032, USA.

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http://dx.doi.org/10.1038/nrd.2017.226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287751PMC
March 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

Am J Med Genet A 2017 Dec 22;173(12):3158-3164. Epub 2017 Sep 22.

Department of Pediatrics, Division of Clinical Genetics, Columbia University Medical Center (CUMC), New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.38460DOI Listing
December 2017

A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa.

J Pediatr 2017 12;191:266-269.e1

Department of Pediatrics, Columbia University, New York, NY; Department of Pathology and Cell Biology, Columbia University, New York, NY.

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http://dx.doi.org/10.1016/j.jpeds.2017.08.029DOI Listing
December 2017

Annotating pathogenic non-coding variants in genic regions.

Nat Commun 2017 08 9;8(1):236. Epub 2017 Aug 9.

Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, 10032, USA.

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http://dx.doi.org/10.1038/s41467-017-00141-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550444PMC
August 2017

The importance of dynamic re-analysis in diagnostic whole exome sequencing.

J Med Genet 2017 03 29;54(3):155-156. Epub 2016 Nov 29.

Institute for Genomic Medicine, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1136/jmedgenet-2016-104306DOI Listing
March 2017

Whole Exome Sequencing Reveals Severe Thrombophilia in Acute Unprovoked Idiopathic Fatal Pulmonary Embolism.

EBioMedicine 2017 Mar 31;17:95-100. Epub 2017 Jan 31.

Molecular Genetics Laboratory, New York City Office of Chief Medical Examiner, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2017.01.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5360570PMC
March 2017

Reply.

Ann Neurol 2017 01;81(1):161-162

Department of Genetics, Institute for Genomic Medicine, Columbia University Medical Center, New York, NY.

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http://dx.doi.org/10.1002/ana.24837DOI Listing
January 2017

MicroRNAs in epilepsy: pathophysiology and clinical utility.

Lancet Neurol 2016 Dec;15(13):1368-1376

Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe-University Frankfurt, Frankfurt, Germany; Epilepsy Center Marburg, Department of Neurology, Philipps University Marburg, Marburg, Germany.

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http://dx.doi.org/10.1016/S1474-4422(16)30246-0DOI Listing
December 2016

Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.

J Genet Couns 2016 10 12;25(5):1019-31. Epub 2016 Feb 12.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Box 103757, Durham, NC, 27710, USA.

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http://dx.doi.org/10.1007/s10897-016-9933-1DOI Listing
October 2016

Inhibition of microRNA 128 promotes excitability of cultured cortical neuronal networks.

Genome Res 2016 10 11;26(10):1411-1416. Epub 2016 Aug 11.

Institute for Genomic Medicine, Columbia University Medical Center, New York, New York 10032, USA; Department of Genetics and Development, Columbia University Medical Center, New York, New York 10032, USA.

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http://dx.doi.org/10.1101/gr.199828.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5052052PMC
October 2016

Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation.

Dialogues Clin Neurosci 2016 09;18(3):237-252

Institute for Genomic Medicine, Columbia University, New York, NY, 10032, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5067142PMC
September 2016

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.

Am J Hum Genet 2016 08 21;99(2):423-9. Epub 2016 Jul 21.

Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.05.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974069PMC
August 2016

Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine.

Genome Biol 2016 07 14;17(1):157. Epub 2016 Jul 14.

Institute for Genomic Medicine, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1186/s13059-016-1016-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4944427PMC
July 2016

Schizophrenia: From genetics to physiology at last.

Nature 2016 Feb 27;530(7589):162-3. Epub 2016 Jan 27.

Institute for Genomic Medicine, Columbia University Medical Center, New York, New York 10032, USA.

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http://dx.doi.org/10.1038/nature16874DOI Listing
February 2016

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.

Eur J Paediatr Neurol 2016 Jan 22;20(1):69-79. Epub 2015 Oct 22.

Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Med. Ctr., Israel; The Sackler School of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798150017
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http://dx.doi.org/10.1016/j.ejpn.2015.10.003DOI Listing
January 2016

IFNL3 mRNA structure is remodeled by a functional non-coding polymorphism associated with hepatitis C virus clearance.

Sci Rep 2015 Nov 4;5:16037. Epub 2015 Nov 4.

Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham NC, 27710, USA.

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http://www.nature.com/articles/srep16037
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http://dx.doi.org/10.1038/srep16037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4631997PMC
November 2015

Data sharing in the undiagnosed diseases network.

Hum Mutat 2015 Oct 27;36(10):985-8. Epub 2015 Aug 27.

Columbia Institute for Genomic Medicine, Genetics and Development, New York, New York.

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http://dx.doi.org/10.1002/humu.22840DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706173PMC
October 2015

Genetic Discoveries Drive Molecular Analyses and Targeted Therapeutic Options in the Epilepsies.

Curr Neurol Neurosci Rep 2015 Oct;15(10):70

Institute for Genomic Medicine, Columbia University, Hammer Building, 701 West 168th Street, Box 149, New York, NY, 10032, USA,

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http://link.springer.com/content/pdf/10.1007/s11910-015-0587
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http://link.springer.com/10.1007/s11910-015-0587-4
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http://dx.doi.org/10.1007/s11910-015-0587-4DOI Listing
October 2015

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity.

PLoS Genet 2015 Sep 2;11(9):e1005492. Epub 2015 Sep 2.

Institute for Genomic Medicine, Columbia University, New York, New York, United States of America; Center for Human Genome Variation, Duke University, School of Medicine, Durham, North Carolina, United States of America.

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http://search.proquest.com/openview/8c0e2ff44fdb4211db064b3c
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http://dx.plos.org/10.1371/journal.pgen.1005492
Publisher Site
http://dx.doi.org/10.1371/journal.pgen.1005492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557908PMC
September 2015

Clinical application of whole-genome sequencing in patients with primary immunodeficiency.

J Allergy Clin Immunol 2015 Aug 14;136(2):476-9.e6. Epub 2015 May 14.

Center for Human Genome Variation, Duke University School of Medicine, Durham, NC; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY.

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https://www.uab.edu/medicine/rheumatology/images/TH_-_Mousal
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http://linkinghub.elsevier.com/retrieve/pii/S009167491500428
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http://dx.doi.org/10.1016/j.jaci.2015.02.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037571PMC
August 2015

Incorporating Functional Information in Tests of Excess De Novo Mutational Load.

Am J Hum Genet 2015 Aug 30;97(2):272-83. Epub 2015 Jul 30.

Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27710, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.06.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573447PMC
August 2015

The genetics of neuropsychiatric diseases: looking in and beyond the exome.

Annu Rev Neurosci 2015 Jul 2;38:47-68. Epub 2015 Apr 2.

Institute for Genomic Medicine.

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http://dx.doi.org/10.1146/annurev-neuro-071714-034136DOI Listing
July 2015

Academic-industrial partnerships in drug discovery in the age of genomics.

Trends Biotechnol 2015 Jun;33(6):320-2

Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA.

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http://dx.doi.org/10.1016/j.tibtech.2015.02.009DOI Listing
June 2015

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

N Engl J Med 2015 Jun;372(25):2409-22

From the Division of Immunology (K.D., J.C., S.K., M.J.M., K.C., K.F., T.A.C., R.S.G., L.D.N.) and Manton Center for Orphan Disease Research (L.D.N.), Boston Children's Hospital, and Department of Molecular Biology, Massachusetts General Hospital (T.K.O.), Boston, Harvard Stem Cell Institute, Harvard University, Cambridge (L.D.N.), and Department of Pediatrics, University of Massachusetts Medical School, Worcester (A.M.C.) - all in Massachusetts; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (C.D.C., I.B., N.K.S., M.S., C.B., K.B.), Department of Pediatrics and Adolescent Medicine, Medical University of Vienna (K.B.), and CeRUD Vienna Center for Rare and Undiagnosed Diseases (K.B.) - all in Vienna; St. Giles Laboratory of Human Genetics of Infectious Disease, Rockefeller Branch, Rockefeller University (S.-Y.Z., M.A., S.O., B.B., Y.I., L.A., J.-L.C.), and Institute for Genomic Medicine, Columbia University (S. Petrovski, D.B.G.) - both in New York; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 (S.-Y.Z., V.P., L.A., J.-L.C.), Paris Descartes University, Sorbonne Paris Cité, Imagine Institute (S.-Y.Z., F.R., P.L., L.A., J.-L.C.), and Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children (J.-L.C.) - all in Paris; Howard Hughes Medical Institute, Chevy Chase, MD (J.-L.C.); Department of Molecular and Translational Medicine, University of Brescia, Brescia (S. Parolini, O.P., G.T.), and Department of Experimental Medicine and Center of Excellence for Biomedical Research, University of Genoa, Genoa (A.M.) - both in Italy; Folkhälsan Institute of Genetics and Research Programs Unit, Molecular Neurology (E.H.), Institute for Molecular Medicine Finland (J.S.), Children's Hospital (M.K.), Research Programs Unit, Diabetes and Obesity Research Program (M.K.), and Folkhälsan Research Center (M.K.), University of Helsinki and Helsinki University Central Hospital, Helsinki, Tampere Center

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http://dx.doi.org/10.1056/NEJMoa1413462DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480434PMC
June 2015

Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.

Neurol Genet 2015 Jun 17;1(1):e4. Epub 2015 Apr 17.

Department of Molecular Genetics and Microbiology (S.S.B.), Duke University School of Medicine (R.S.D., S.S.B., X.Y.), Durham, NC; Institute for Genomic Medicine (E.L.H., S.P., B.J.K., D.B.G.), Columbia University, New York, NY; Department of Medicine (S. Petrovski), The University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, Australia; Centre for Clinical Translation (M.R.J.), Division of Brain Sciences, Imperial College London, Charing Cross Hospital Campus, London, United Kingdom; The Jackson Laboratory (W.N.F., R.M.B.), Bar Harbor, ME; and Division of Epilepsy (S. Petrou), The Florey Institute of Neuroscience, Victoria, Australia.

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http://dx.doi.org/10.1212/01.NXG.0000464295.65736.daDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821085PMC
June 2015

A functional correlate of severity in alternating hemiplegia of childhood.

Neurobiol Dis 2015 May 12;77:88-93. Epub 2015 Feb 12.

Ion Channels & Disease Group, Epilepsy Division, The Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia; Centre for Neural Engineering, Department of Electrical Engineering, The University of Melbourne, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2015.02.002DOI Listing
May 2015

Testing for risk and protective trends in genetic analyses of HIV acquisition.

Biostatistics 2015 Apr 29;16(2):268-80. Epub 2014 Sep 29.

Department of Biostatistics and Bioinformatics and Center for Human Genome Variation, Duke University, Durham, NC 27710, USA

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http://dx.doi.org/10.1093/biostatistics/kxu044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441099PMC
April 2015

Interferon-λ4 is a cell-autonomous type III interferon associated with pre-treatment hepatitis C virus burden.

Virology 2015 Feb 9;476:334-340. Epub 2015 Jan 9.

Department of Molecular Genetics and Microbiology, Duke University Medical Center, NC 27710, USA; Center for Human Genome Variation, Duke University Medical Center, NC 27710, USA; Center for RNA Biology, Duke University Medical Center, NC 27710, USA.

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http://dx.doi.org/10.1016/j.virol.2014.12.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4494652PMC
February 2015

Phenomics and the interpretation of personal genomes.

Sci Transl Med 2014 Sep;6(254):254fs35

Center for Human Genome Variation, Duke University School of Medicine, Durham, NC, 27708, USA.

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http://dx.doi.org/10.1126/scitranslmed.3010272DOI Listing
September 2014

Schizophrenia genetics comes of age.

Neuron 2014 Aug;83(4):760-3

Center for Human Genome Variation, Duke University Medical School, Durham, NC 27708, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2014.08.015DOI Listing
August 2014

Personalized medicine and human genetic diversity.

Cold Spring Harb Perspect Med 2014 Jul 24;4(9):a008581. Epub 2014 Jul 24.

Molecular and Cellular Therapeutics, Royal College of Surgeons, Dublin 4, Ireland.

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http://dx.doi.org/10.1101/cshperspect.a008581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4143101PMC
July 2014

Utilizing population controls in rare-variant case-parent association tests.

Am J Hum Genet 2014 Jun 15;94(6):845-53. Epub 2014 May 15.

Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27710, USA; Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121482PMC
June 2014

One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.

Nat Neurosci 2014 Jun 27;17(6):773-81. Epub 2014 May 27.

Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA.

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http://psych.colorado.edu/~carey/pdffiles/mendelianpsychiatr
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http://www.nature.com/doifinder/10.1038/nn.3713
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http://dx.doi.org/10.1038/nn.3713DOI Listing
June 2014

Genic intolerance to functional variation and the interpretation of personal genomes.

PLoS Genet 2013 22;9(8):e1003709. Epub 2013 Aug 22.

Center for Human Genome Variation, Duke University, School of Medicine, Durham, North Carolina, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1003709DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749936PMC
March 2014

Pharmacogenetics at 50: genomic personalization comes of age.

Sci Transl Med 2014 Jan;6(220):220ps1

Center for Human Genome Variation, Duke University Medical Center, Durham, NC 27708, USA.

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http://dx.doi.org/10.1126/scitranslmed.3005237DOI Listing
January 2014

Diagnostic exome sequencing: a new paradigm in neurology.

Neuron 2013 Nov;80(4):841-3

Department of Neurology, Beaumont Hospital, Royal College of Surgeons, Dublin 9, Ireland. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2013.09.011DOI Listing
November 2013

De novo mutations in epileptic encephalopathies.

Nature 2013 Sep 11;501(7466):217-21. Epub 2013 Aug 11.

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http://dx.doi.org/10.1038/nature12439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773011PMC
September 2013