David M Altshuler

David M Altshuler

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David M Altshuler

David M Altshuler

Publications by authors named "David M Altshuler"

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Analysis of protein-coding genetic variation in 60,706 humans.

Nature 2016 08;536(7616):285-91

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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http://www.nature.com/articles/nature19057
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http://dx.doi.org/10.1038/nature19057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018207PMC
August 2016

Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.

Nat Genet 2015 Aug 22;47(8):921-5. Epub 2015 Jun 22.

1] Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. [3] Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4712930PMC
August 2015

A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.

Am J Hum Genet 2014 Nov 16;95(5):509-20. Epub 2014 Oct 16.

Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140039
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http://dx.doi.org/10.1016/j.ajhg.2014.09.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225638PMC
November 2014

Distribution and medical impact of loss-of-function variants in the Finnish founder population.

PLoS Genet 2014 Jul 31;10(7):e1004494. Epub 2014 Jul 31.

Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1004494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117444PMC
July 2014

Increased burden of cardiovascular disease in carriers of APOL1 genetic variants.

Circ Res 2014 Feb 30;114(5):845-50. Epub 2013 Dec 30.

From the Department of Genetics, Harvard Medical School, Boston, MA (K.I., A.G.B., M.G.P., S.R.D., J.N.H., J.G.S., C.S.); Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge (K.I., A.G.B., J.F., G.G., N.G., S.B.G., C.N.-C., S.K., J.N.H., D.M.A., M.R.P., J.G.S., C.S.); Center for Human Genetic Research, Massachusetts General Hospital, Boston (J.F., C.N.-C., S.K., D.M.A.); Division of Nephrology, Department of Medicine (D.J.F., G.G., M.R.P.) and Center for Vascular Biology Research, Department of Medicine (D.J.F.), Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA; Departments of Medicine (H.A.T., E.R.F.) and Physiology and Biophysics (J.G.W.), University of Mississippi Medical Center, Jackson; Jackson State University, MS (H.A.T.); Tougaloo College, MS (H.A.T.); Cardiology Division, Massachusetts General Hospital, Boston (C.N.-C., S.K.); Divisions of Genetics and Endocrinology and Program in Genomics, Children's Hospital, Boston, MA (J.N.H.); and Howard Hughes Medical Institute and Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, MA (C.S.).

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http://dx.doi.org/10.1161/CIRCRESAHA.114.302347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3982584PMC
February 2014

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.

Authors:
Kate M Im Tomas Kirchhoff Xianshu Wang Todd Green Clement Y Chow Joseph Vijai Joshua Korn Mia M Gaudet Zachary Fredericksen V Shane Pankratz Candace Guiducci Andrew Crenshaw Lesley McGuffog Christiana Kartsonaki Jonathan Morrison Sue Healey Olga M Sinilnikova Phuong L Mai Mark H Greene Marion Piedmonte Wendy S Rubinstein Frans B Hogervorst Matti A Rookus J Margriet Collée Nicoline Hoogerbrugge Christi J van Asperen Hanne E J Meijers-Heijboer Cees E Van Roozendaal Trinidad Caldes Pedro Perez-Segura Anna Jakubowska Jan Lubinski Tomasz Huzarski Paweł Blecharz Heli Nevanlinna Kristiina Aittomäki Conxi Lazaro Ignacio Blanco Rosa B Barkardottir Marco Montagna Emma D'Andrea Peter Devilee Olufunmilayo I Olopade Susan L Neuhausen Bernard Peissel Bernardo Bonanni Paolo Peterlongo Christian F Singer Gad Rennert Flavio Lejbkowicz Irene L Andrulis Gord Glendon Hilmi Ozcelik Amanda Ewart Toland Maria Adelaide Caligo Mary S Beattie Salina Chan Susan M Domchek Katherine L Nathanson Timothy R Rebbeck Catherine Phelan Steven Narod Esther M John John L Hopper Saundra S Buys Mary B Daly Melissa C Southey Mary-Beth Terry Nadine Tung Thomas V O Hansen Ana Osorio Javier Benitez Mercedes Durán Jeffrey N Weitzel Judy Garber Ute Hamann Susan Peock Margaret Cook Clare T Oliver Debra Frost Radka Platte D Gareth Evans Ros Eeles Louise Izatt Joan Paterson Carole Brewer Shirley Hodgson Patrick J Morrison Mary Porteous Lisa Walker Mark T Rogers Lucy E Side Andrew K Godwin Rita K Schmutzler Barbara Wappenschmidt Yael Laitman Alfons Meindl Helmut Deissler Raymonda Varon-Mateeva Sabine Preisler-Adams Karin Kast Laurence Venat-Bouvet Dominique Stoppa-Lyonnet Georgia Chenevix-Trench Douglas F Easton Robert J Klein Mark J Daly Eitan Friedman Michael Dean Andrew G Clark David M Altshuler Antonis C Antoniou Fergus J Couch Kenneth Offit Bert Gold

Hum Genet 2011 Nov 20;130(5):685-99. Epub 2011 May 20.

Center for Cancer Research, Cancer Inflammation Program, Human Genetics Section, National Cancer Institute, Frederick, MD, USA.

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http://dx.doi.org/10.1007/s00439-011-1003-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3196382PMC
November 2011

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.

Authors:
Mia M Gaudet Tomas Kirchhoff Todd Green Joseph Vijai Joshua M Korn Candace Guiducci Ayellet V Segrè Kate McGee Lesley McGuffog Christiana Kartsonaki Jonathan Morrison Sue Healey Olga M Sinilnikova Dominique Stoppa-Lyonnet Sylvie Mazoyer Marion Gauthier-Villars Hagay Sobol Michel Longy Marc Frenay GEMO Study Collaborators Frans B L Hogervorst Matti A Rookus J Margriet Collée Nicoline Hoogerbrugge Kees E P van Roozendaal Marion Piedmonte Wendy Rubinstein Stacy Nerenstone Linda Van Le Stephanie V Blank Trinidad Caldés Miguel de la Hoya Heli Nevanlinna Kristiina Aittomäki Conxi Lazaro Ignacio Blanco Adalgeir Arason Oskar T Johannsson Rosa B Barkardottir Peter Devilee Olofunmilayo I Olopade Susan L Neuhausen Xianshu Wang Zachary S Fredericksen Paolo Peterlongo Siranoush Manoukian Monica Barile Alessandra Viel Paolo Radice Catherine M Phelan Steven Narod Gad Rennert Flavio Lejbkowicz Anath Flugelman Irene L Andrulis Gord Glendon Hilmi Ozcelik Amanda E Toland Marco Montagna Emma D'Andrea Eitan Friedman Yael Laitman Ake Borg Mary Beattie Susan J Ramus Susan M Domchek Katherine L Nathanson Tim Rebbeck Amanda B Spurdle Xiaoqing Chen Helene Holland Esther M John John L Hopper Saundra S Buys Mary B Daly Melissa C Southey Mary Beth Terry Nadine Tung Thomas V Overeem Hansen Finn C Nielsen Mark H Greene Mark I Greene Phuong L Mai Ana Osorio Mercedes Durán Raquel Andres Javier Benítez Jeffrey N Weitzel Judy Garber Ute Hamann Susan Peock Margaret Cook Clare Oliver Debra Frost Radka Platte D Gareth Evans Fiona Lalloo Ros Eeles Louise Izatt Lisa Walker Jacqueline Eason Julian Barwell Andrew K Godwin Rita K Schmutzler Barbara Wappenschmidt Stefanie Engert Norbert Arnold Dorothea Gadzicki Michael Dean Bert Gold Robert J Klein Fergus J Couch Georgia Chenevix-Trench Douglas F Easton Mark J Daly Antonis C Antoniou David M Altshuler Kenneth Offit

PLoS Genet 2010 Oct 28;6(10):e1001183. Epub 2010 Oct 28.

Department of Epidemiology and Population Health and Department of Obstetrics and Gynecology and Women's Health, Albert Einstein College of Medicine, New York, New York, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1001183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965747PMC
October 2010

Integrating common and rare genetic variation in diverse human populations.

Nature 2010 Sep;467(7311):52-8

Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02138, USA.

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http://dx.doi.org/10.1038/nature09298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3173859PMC
September 2010

European admixture on the Micronesian island of Kosrae: lessons from complete genetic information.

Eur J Hum Genet 2010 Mar 21;18(3):309-16. Epub 2009 Oct 21.

Department of Human and Molecular Genetics, Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1038/ejhg.2009.180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987223PMC
March 2010

Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.

Heart Rhythm 2009 May 15;6(5):634-41. Epub 2009 Feb 15.

Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1016/j.hrthm.2009.02.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2673462PMC
May 2009

Copy-number variation and association studies of human disease.

Nat Genet 2007 Jul;39(7 Suppl):S37-42

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng2080DOI Listing
July 2007

Challenges and standards in integrating surveys of structural variation.

Nat Genet 2007 Jul;39(7 Suppl):S7-15

The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, 101 College Street, Room 14-701, Ontario M5G 1L7, Canada.

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http://www.nature.com/doifinder/10.1038/ng2093
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http://dx.doi.org/10.1038/ng2093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2698291PMC
July 2007

Copy number variation: new insights in genome diversity.

Genome Res 2006 Aug 29;16(8):949-61. Epub 2006 Jun 29.

Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1101/gr.3677206DOI Listing
August 2006

Biases and reconciliation in estimates of linkage disequilibrium in the human genome.

Am J Hum Genet 2006 Apr 1;78(4):588-603. Epub 2006 Mar 1.

Center for Human Genetic Research, Massachusetts General Hospital, Boston, 02114, USA.

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http://dx.doi.org/10.1086/502803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1424697PMC
April 2006

Common deletion polymorphisms in the human genome.

Nat Genet 2006 Jan;38(1):86-92

Department of Molecular Biology, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02114, USA.

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January 2006

Prospective study of the association between the proline to alanine codon 12 polymorphism in the PPARgamma gene and type 2 diabetes.

Diabetes Care 2003 Oct;26(10):2915-7

Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.2337/diacare.26.10.2915DOI Listing
October 2003