Stacey B Gabriel

Stacey B Gabriel

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Stacey B Gabriel

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Impaired human hematopoiesis due to a cryptic intronic splicing mutation.

J Exp Med 2019 May 26;216(5):1050-1060. Epub 2019 Mar 26.

Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA

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http://www.jem.org/lookup/doi/10.1084/jem.20181625
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http://dx.doi.org/10.1084/jem.20181625DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6504223PMC
May 2019

Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

Authors:
Joshua C Bis Xueqiu Jian Brian W Kunkle Yuning Chen Kara L Hamilton-Nelson William S Bush William J Salerno Daniel Lancour Yiyi Ma Alan E Renton Edoardo Marcora John J Farrell Yi Zhao Liming Qu Shahzad Ahmad Najaf Amin Philippe Amouyel Gary W Beecham Jennifer E Below Dominique Campion Camille Charbonnier Jaeyoon Chung Paul K Crane Carlos Cruchaga L Adrienne Cupples Jean-François Dartigues Stéphanie Debette Jean-François Deleuze Lucinda Fulton Stacey B Gabriel Emmanuelle Genin Richard A Gibbs Alison Goate Benjamin Grenier-Boley Namrata Gupta Jonathan L Haines Aki S Havulinna Seppo Helisalmi Mikko Hiltunen Daniel P Howrigan M Arfan Ikram Jaakko Kaprio Jan Konrad Amanda Kuzma Eric S Lander Mark Lathrop Terho Lehtimäki Honghuang Lin Kari Mattila Richard Mayeux Donna M Muzny Waleed Nasser Benjamin Neale Kwangsik Nho Gaël Nicolas Devanshi Patel Margaret A Pericak-Vance Markus Perola Bruce M Psaty Olivier Quenez Farid Rajabli Richard Redon Christiane Reitz Anne M Remes Veikko Salomaa Chloe Sarnowski Helena Schmidt Michael Schmidt Reinhold Schmidt Hilkka Soininen Timothy A Thornton Giuseppe Tosto Christophe Tzourio Sven J van der Lee Cornelia M van Duijn Badri Vardarajan Weixin Wang Ellen Wijsman Richard K Wilson Daniela Witten Kim C Worley Xiaoling Zhang Celine Bellenguez Jean-Charles Lambert Mitja I Kurki Aarno Palotie Mark Daly Eric Boerwinkle Kathryn L Lunetta Anita L Destefano Josée Dupuis Eden R Martin Gerard D Schellenberg Sudha Seshadri Adam C Naj Myriam Fornage Lindsay A Farrer

Mol Psychiatry 2018 Aug 14. Epub 2018 Aug 14.

Departments of Biostatistics, Boston University School of Public Health, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41380-018-0112-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375806PMC
August 2018

Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation.

Cell 2017 03;168(6):1053-1064.e15

Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00928674173024
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http://dx.doi.org/10.1016/j.cell.2017.02.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376096PMC
March 2017

Technological considerations for genome-guided diagnosis and management of cancer.

Genome Med 2016 10 26;8(1):112. Epub 2016 Oct 26.

Broad Institute of MIT & Harvard, Cambridge, MA, 02142, USA.

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http://dx.doi.org/10.1186/s13073-016-0370-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5080740PMC
October 2016

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

Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Rep 2016 Apr 14;15(4):857-865. Epub 2016 Apr 14.

Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02215, USA; Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.03.075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850357PMC
April 2016

Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma.

Authors:
W Marston Linehan Paul T Spellman Christopher J Ricketts Chad J Creighton Suzanne S Fei Caleb Davis David A Wheeler Bradley A Murray Laura Schmidt Cathy D Vocke Myron Peto Abu Amar M Al Mamun Eve Shinbrot Anurag Sethi Samira Brooks W Kimryn Rathmell Angela N Brooks Katherine A Hoadley A Gordon Robertson Denise Brooks Reanne Bowlby Sara Sadeghi Hui Shen Daniel J Weisenberger Moiz Bootwalla Stephen B Baylin Peter W Laird Andrew D Cherniack Gordon Saksena Scott Haake Jun Li Han Liang Yiling Lu Gordon B Mills Rehan Akbani Mark D M Leiserson Benjamin J Raphael Pavana Anur Donald Bottaro Laurence Albiges Nandita Barnabas Toni K Choueiri Bogdan Czerniak Andrew K Godwin A Ari Hakimi Thai H Ho James Hsieh Michael Ittmann William Y Kim Bhavani Krishnan Maria J Merino Kenna R Mills Shaw Victor E Reuter Ed Reznik Carl S Shelley Brian Shuch Sabina Signoretti Ramaprasad Srinivasan Pheroze Tamboli George Thomas Satish Tickoo Kenneth Burnett Daniel Crain Johanna Gardner Kevin Lau David Mallery Scott Morris Joseph D Paulauskis Robert J Penny Candace Shelton W Troy Shelton Mark Sherman Eric Thompson Peggy Yena Melissa T Avedon Jay Bowen Julie M Gastier-Foster Mark Gerken Kristen M Leraas Tara M Lichtenberg Nilsa C Ramirez Tracie Santos Lisa Wise Erik Zmuda John A Demchok Ina Felau Carolyn M Hutter Margi Sheth Heidi J Sofia Roy Tarnuzzer Zhining Wang Liming Yang Jean C Zenklusen Jiashan Zhang Brenda Ayala Julien Baboud Sudha Chudamani Jia Liu Laxmi Lolla Rashi Naresh Todd Pihl Qiang Sun Yunhu Wan Ye Wu Adrian Ally Miruna Balasundaram Saianand Balu Rameen Beroukhim Tom Bodenheimer Christian Buhay Yaron S N Butterfield Rebecca Carlsen Scott L Carter Hsu Chao Eric Chuah Amanda Clarke Kyle R Covington Mahmoud Dahdouli Ninad Dewal Noreen Dhalla Harsha V Doddapaneni Jennifer A Drummond Stacey B Gabriel Richard A Gibbs Ranabir Guin Walker Hale Alicia Hawes D Neil Hayes Robert A Holt Alan P Hoyle Stuart R Jefferys Steven J M Jones Corbin D Jones Divya Kalra Christie Kovar Lora Lewis Jie Li Yussanne Ma Marco A Marra Michael Mayo Shaowu Meng Matthew Meyerson Piotr A Mieczkowski Richard A Moore Donna Morton Lisle E Mose Andrew J Mungall Donna Muzny Joel S Parker Charles M Perou Jeffrey Roach Jacqueline E Schein Steven E Schumacher Yan Shi Janae V Simons Payal Sipahimalani Tara Skelly Matthew G Soloway Carrie Sougnez Angela Tam Donghui Tan Nina Thiessen Umadevi Veluvolu Min Wang Matthew D Wilkerson Tina Wong Junyuan Wu Liu Xi Jane Zhou Jason Bedford Fengju Chen Yao Fu Mark Gerstein David Haussler Katayoon Kasaian Phillip Lai Shiyun Ling Amie Radenbaugh David Van Den Berg John N Weinstein Jingchun Zhu Monique Albert Iakovina Alexopoulou Jeremiah J Andersen J Todd Auman John Bartlett Sheldon Bastacky Julie Bergsten Michael L Blute Lori Boice Roni J Bollag Jeff Boyd Erik Castle Ying-Bei Chen John C Cheville Erin Curley Benjamin Davies April DeVolk Rajiv Dhir Laura Dike John Eckman Jay Engel Jodi Harr Ronald Hrebinko Mei Huang Lori Huelsenbeck-Dill Mary Iacocca Bruce Jacobs Michael Lobis Jodi K Maranchie Scott McMeekin Jerome Myers Joel Nelson Jeremy Parfitt Anil Parwani Nicholas Petrelli Brenda Rabeno Somak Roy Andrew L Salner Joel Slaton Melissa Stanton R Houston Thompson Leigh Thorne Kelinda Tucker Paul M Weinberger Cynthia Winemiller Leigh Anne Zach Rosemary Zuna

Mosquito genomics. Highly evolvable malaria vectors: the genomes of 16 Anopheles mosquitoes.

Authors:
Daniel E Neafsey Robert M Waterhouse Mohammad R Abai Sergey S Aganezov Max A Alekseyev James E Allen James Amon Bruno Arcà Peter Arensburger Gleb Artemov Lauren A Assour Hamidreza Basseri Aaron Berlin Bruce W Birren Stephanie A Blandin Andrew I Brockman Thomas R Burkot Austin Burt Clara S Chan Cedric Chauve Joanna C Chiu Mikkel Christensen Carlo Costantini Victoria L M Davidson Elena Deligianni Tania Dottorini Vicky Dritsou Stacey B Gabriel Wamdaogo M Guelbeogo Andrew B Hall Mira V Han Thaung Hlaing Daniel S T Hughes Adam M Jenkins Xiaofang Jiang Irwin Jungreis Evdoxia G Kakani Maryam Kamali Petri Kemppainen Ryan C Kennedy Ioannis K Kirmitzoglou Lizette L Koekemoer Njoroge Laban Nicholas Langridge Mara K N Lawniczak Manolis Lirakis Neil F Lobo Ernesto Lowy Robert M MacCallum Chunhong Mao Gareth Maslen Charles Mbogo Jenny McCarthy Kristin Michel Sara N Mitchell Wendy Moore Katherine A Murphy Anastasia N Naumenko Tony Nolan Eva M Novoa Samantha O'Loughlin Chioma Oringanje Mohammad A Oshaghi Nazzy Pakpour Philippos A Papathanos Ashley N Peery Michael Povelones Anil Prakash David P Price Ashok Rajaraman Lisa J Reimer David C Rinker Antonis Rokas Tanya L Russell N'Fale Sagnon Maria V Sharakhova Terrance Shea Felipe A Simão Frederic Simard Michel A Slotman Pradya Somboon Vladimir Stegniy Claudio J Struchiner Gregg W C Thomas Marta Tojo Pantelis Topalis José M C Tubio Maria F Unger John Vontas Catherine Walton Craig S Wilding Judith H Willis Yi-Chieh Wu Guiyun Yan Evgeny M Zdobnov Xiaofan Zhou Flaminia Catteruccia George K Christophides Frank H Collins Robert S Cornman Andrea Crisanti Martin J Donnelly Scott J Emrich Michael C Fontaine William Gelbart Matthew W Hahn Immo A Hansen Paul I Howell Fotis C Kafatos Manolis Kellis Daniel Lawson Christos Louis Shirley Luckhart Marc A T Muskavitch José M Ribeiro Michael A Riehle Igor V Sharakhov Zhijian Tu Laurence J Zwiebel Nora J Besansky

Science 2015 Jan 27;347(6217):1258522. Epub 2014 Nov 27.

Eck Institute for Global Health and Department of Biological Sciences, University of Notre Dame, 317 Galvin Life Sciences Building, Notre Dame, IN 46556, USA.

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http://dx.doi.org/10.1126/science.1258522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380271PMC
January 2015

RNF43 is frequently mutated in colorectal and endometrial cancers.

Nat Genet 2014 Dec 26;46(12):1264-6. Epub 2014 Oct 26.

1] Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA. [2] Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA. [3] Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4283570PMC
December 2014

A framework for the interpretation of de novo mutation in human disease.

Nat Genet 2014 Sep 3;46(9):944-50. Epub 2014 Aug 3.

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

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http://dx.doi.org/10.1038/ng.3050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222185PMC
September 2014

Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.

Proc Natl Acad Sci U S A 2014 Sep 25;111(36):13127-32. Epub 2014 Aug 25.

Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142; Department of Molecular Biology and Diabetes Unit, Massachusetts General Hospital, Boston, MA 02114; Department of Medicine, Harvard Medical School, Boston, MA 02115; Department of Genetics, Harvard Medical School, Boston, MA 02115; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139

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http://dx.doi.org/10.1073/pnas.1410428111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4246964PMC
September 2014

Activating mTOR mutations in a patient with an extraordinary response on a phase I trial of everolimus and pazopanib.

Cancer Discov 2014 May 13;4(5):546-53. Epub 2014 Mar 13.

Departments of 1Medical Oncology and 2Biostatistics and Computational Biology, 3Center for Molecular Oncologic Pathology, Dana-Farber Cancer Institute; Departments of 4Medicine and 5Pathology, Brigham and Women's Hospital, Harvard Medical School; 6Division of Hematology/Oncology, Massachusetts General Hospital, Boston; 7Broad Institute of Harvard and MIT; 8Department of Biology, Whitehead Institute for Biomedical Research; 9Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, Massachusetts; and 10Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York.

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http://dx.doi.org/10.1158/2159-8290.CD-13-0353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4122326PMC
May 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

Landscape of genomic alterations in cervical carcinomas.

Nature 2014 Feb 25;506(7488):371-5. Epub 2013 Dec 25.

1] Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts 02215, USA [2] The Eli and Edythe L. Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, Massachusetts 02142, USA [3] Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA [4].

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http://dx.doi.org/10.1038/nature12881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4161954PMC
February 2014

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

Authors:
Leslie A Lange Youna Hu He Zhang Chenyi Xue Ellen M Schmidt Zheng-Zheng Tang Chris Bizon Ethan M Lange Joshua D Smith Emily H Turner Goo Jun Hyun Min Kang Gina Peloso Paul Auer Kuo-Ping Li Jason Flannick Ji Zhang Christian Fuchsberger Kyle Gaulton Cecilia Lindgren Adam Locke Alisa Manning Xueling Sim Manuel A Rivas Oddgeir L Holmen Omri Gottesman Yingchang Lu Douglas Ruderfer Eli A Stahl Qing Duan Yun Li Peter Durda Shuo Jiao Aaron Isaacs Albert Hofman Joshua C Bis Adolfo Correa Michael E Griswold Johanna Jakobsdottir Albert V Smith Pamela J Schreiner Mary F Feitosa Qunyuan Zhang Jennifer E Huffman Jacy Crosby Christina L Wassel Ron Do Nora Franceschini Lisa W Martin Jennifer G Robinson Themistocles L Assimes David R Crosslin Elisabeth A Rosenthal Michael Tsai Mark J Rieder Deborah N Farlow Aaron R Folsom Thomas Lumley Ervin R Fox Christopher S Carlson Ulrike Peters Rebecca D Jackson Cornelia M van Duijn André G Uitterlinden Daniel Levy Jerome I Rotter Herman A Taylor Vilmundur Gudnason David S Siscovick Myriam Fornage Ingrid B Borecki Caroline Hayward Igor Rudan Y Eugene Chen Erwin P Bottinger Ruth J F Loos Pål Sætrom Kristian Hveem Michael Boehnke Leif Groop Mark McCarthy Thomas Meitinger Christie M Ballantyne Stacey B Gabriel Christopher J O'Donnell Wendy S Post Kari E North Alexander P Reiner Eric Boerwinkle Bruce M Psaty David Altshuler Sekar Kathiresan Dan-Yu Lin Gail P Jarvik L Adrienne Cupples Charles Kooperberg James G Wilson Deborah A Nickerson Goncalo R Abecasis Stephen S Rich Russell P Tracy Cristen J Willer

Am J Hum Genet 2014 Feb;94(2):233-45

Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928660PMC
February 2014

The genetic landscape of clinical resistance to RAF inhibition in metastatic melanoma.

Cancer Discov 2014 Jan 21;4(1):94-109. Epub 2013 Nov 21.

1Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School; 2Department of Pathology, Massachusetts General Hospital Cancer Center, Boston; 3Broad Institute of MIT and Harvard; 4Harvard-MIT Division of Health Sciences and Technology, Massachusetts Institute of Technology (MIT), Cambridge, Massachusetts; 5Department of Dermatology, University Hospital, West German Cancer Center, University Duisburg-Essen, Essen; 6German Cancer Consortium (DKTK); 7Department of Dermatology, Heidelberg University Hospital, Heidelberg; 8Department of Dermatology and Allergy, Hannover Medical School, Hannover; 9Department of Dermatology, University of Wuerzburg, Wuerzburg; 10Department of Dermatology, Venerology and Allergology, University of Schleswig-Holstein Hospital, Kiel; 11Department of Dermatology and Allergology, Ludwig-Maximilian University, Munich; 12Department of Dermatology, Venerology and Allergy, Charité Universitätsmedizin Berlin, Humboldt University, Berlin; 13Department of Dermatology, University of Mainz, Mainz; 14University Medical Center, University of Tübingen, Tübingen, Germany; 15Department of Genome Sciences, University of Washington, Seattle, Washington; 16Department of Dermatology, University Hospital Zurich, Zurich, Switzerland; and 17First Department of Medicine, Medical School, University of Athens, Athens, Greece.

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http://dx.doi.org/10.1158/2159-8290.CD-13-0617DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3947264PMC
January 2014

MAP kinase pathway alterations in BRAF-mutant melanoma patients with acquired resistance to combined RAF/MEK inhibition.

Cancer Discov 2014 Jan 21;4(1):61-8. Epub 2013 Nov 21.

1Department of Medical Oncology, Dana-Farber Cancer Institute; 2Department of Medicine, Brigham and Women's Hospital; 3Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston; 4Broad Institute of Harvard and MIT; and 5Harvard-MIT Division of Health Sciences and Technology, Massachusetts Institute of Technology (MIT), Cambridge, Massachusetts.

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http://dx.doi.org/10.1158/2159-8290.CD-13-0631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3947296PMC
January 2014

Discovery and saturation analysis of cancer genes across 21 tumour types.

Nature 2014 Jan 5;505(7484):495-501. Epub 2014 Jan 5.

1] Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA [2] Massachusetts General Hospital, Cancer Center and Department of Pathology, 55 Fruit Street, Boston, Massachusetts 02114, USA [3] Harvard Medical School, 25 Shattuck Street, Boston, Massachusetts 02115, USA [4].

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http://dx.doi.org/10.1038/nature12912DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4048962PMC
January 2014

Pan-cancer patterns of somatic copy number alteration.

Nat Genet 2013 Oct;45(10):1134-40

Broad Institute, Cambridge, Massachusetts, USA; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA; Biophysics Program, Harvard University, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.2760DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3966983PMC
October 2013

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.

Authors:
Zari Dastani Marie-France Hivert Nicholas Timpson John R B Perry Xin Yuan Robert A Scott Peter Henneman Iris M Heid Jorge R Kizer Leo-Pekka Lyytikäinen Christian Fuchsberger Toshiko Tanaka Andrew P Morris Kerrin Small Aaron Isaacs Marian Beekman Stefan Coassin Kurt Lohman Lu Qi Stavroula Kanoni James S Pankow Hae-Won Uh Ying Wu Aurelian Bidulescu Laura J Rasmussen-Torvik Celia M T Greenwood Martin Ladouceur Jonna Grimsby Alisa K Manning Ching-Ti Liu Jaspal Kooner Vincent E Mooser Peter Vollenweider Karen A Kapur John Chambers Nicholas J Wareham Claudia Langenberg Rune Frants Ko Willems-Vandijk Ben A Oostra Sara M Willems Claudia Lamina Thomas W Winkler Bruce M Psaty Russell P Tracy Jennifer Brody Ida Chen Jorma Viikari Mika Kähönen Peter P Pramstaller David M Evans Beate St Pourcain Naveed Sattar Andrew R Wood Stefania Bandinelli Olga D Carlson Josephine M Egan Stefan Böhringer Diana van Heemst Lyudmyla Kedenko Kati Kristiansson Marja-Liisa Nuotio Britt-Marie Loo Tamara Harris Melissa Garcia Alka Kanaya Margot Haun Norman Klopp H-Erich Wichmann Panos Deloukas Efi Katsareli David J Couper Bruce B Duncan Margreet Kloppenburg Linda S Adair Judith B Borja James G Wilson Solomon Musani Xiuqing Guo Toby Johnson Robert Semple Tanya M Teslovich Matthew A Allison Susan Redline Sarah G Buxbaum Karen L Mohlke Ingrid Meulenbelt Christie M Ballantyne George V Dedoussis Frank B Hu Yongmei Liu Bernhard Paulweber Timothy D Spector P Eline Slagboom Luigi Ferrucci Antti Jula Markus Perola Olli Raitakari Jose C Florez Veikko Salomaa Johan G Eriksson Timothy M Frayling Andrew A Hicks Terho Lehtimäki George Davey Smith David S Siscovick Florian Kronenberg Cornelia van Duijn Ruth J F Loos Dawn M Waterworth James B Meigs Josee Dupuis J Brent Richards Benjamin F Voight Laura J Scott Valgerdur Steinthorsdottir Christian Dina Ryan P Welch Eleftheria Zeggini Cornelia Huth Yurii S Aulchenko Gudmar Thorleifsson Laura J McCulloch Teresa Ferreira Harald Grallert Najaf Amin Guanming Wu Cristen J Willer Soumya Raychaudhuri Steve A McCarroll Oliver M Hofmann Ayellet V Segrè Mandy van Hoek Pau Navarro Kristin Ardlie Beverley Balkau Rafn Benediktsson Amanda J Bennett Roza Blagieva Eric Boerwinkle Lori L Bonnycastle Kristina Bengtsson Boström Bert Bravenboer Suzannah Bumpstead Noël P Burtt Guillaume Charpentier Peter S Chines Marilyn Cornelis Gabe Crawford Alex S F Doney Katherine S Elliott Amanda L Elliott Michael R Erdos Caroline S Fox Christopher S Franklin Martha Ganser Christian Gieger Niels Grarup Todd Green Simon Griffin Christopher J Groves Candace Guiducci Samy Hadjadj Neelam Hassanali Christian Herder Bo Isomaa Anne U Jackson Paul R V Johnson Torben Jørgensen Wen H L Kao Augustine Kong Peter Kraft Johanna Kuusisto Torsten Lauritzen Man Li Aloysius Lieverse Cecilia M Lindgren Valeriya Lyssenko Michel Marre Thomas Meitinger Kristian Midthjell Mario A Morken Narisu Narisu Peter Nilsson Katharine R Owen Felicity Payne Ann-Kristin Petersen Carl Platou Christine Proença Inga Prokopenko Wolfgang Rathmann N William Rayner Neil R Robertson Ghislain Rocheleau Michael Roden Michael J Sampson Richa Saxena Beverley M Shields Peter Shrader Gunnar Sigurdsson Thomas Sparsø Klaus Strassburger Heather M Stringham Qi Sun Amy J Swift Barbara Thorand Jean Tichet Tiinamaija Tuomi Rob M van Dam Timon W van Haeften Thijs van Herpt Jana V van Vliet-Ostaptchouk G Bragi Walters Michael N Weedon Cisca Wijmenga Jacqueline Witteman Richard N Bergman Stephane Cauchi Francis S Collins Anna L Gloyn Ulf Gyllensten Torben Hansen Winston A Hide Graham A Hitman Albert Hofman David J Hunter Kristian Hveem Markku Laakso Andrew D Morris Colin N A Palmer Igor Rudan Eric Sijbrands Lincoln D Stein Jaakko Tuomilehto Andre Uitterlinden Mark Walker Richard M Watanabe Goncalo R Abecasis Bernhard O Boehm Harry Campbell Mark J Daly Andrew T Hattersley Oluf Pedersen Inês Barroso Leif Groop Rob Sladek Unnur Thorsteinsdottir James F Wilson Thomas Illig Philippe Froguel Cornelia M van Duijn Kari Stefansson David Altshuler Michael Boehnke Mark I McCarthy Nicole Soranzo Eleanor Wheeler Nicole L Glazer Nabila Bouatia-Naji Reedik Mägi Joshua Randall Paul Elliott Denis Rybin Abbas Dehghan Jouke Jan Hottenga Kijoung Song Anuj Goel Taina Lajunen Alex Doney Christine Cavalcanti-Proença Meena Kumari Nicholas J Timpson Carina Zabena Erik Ingelsson Ping An Jeffrey O'Connell Jian'an Luan Amanda Elliott Steven A McCarroll Rosa Maria Roccasecca François Pattou Praveen Sethupathy Yavuz Ariyurek Philip Barter John P Beilby Yoav Ben-Shlomo Sven Bergmann Murielle Bochud Amélie Bonnefond Knut Borch-Johnsen Yvonne Böttcher Eric Brunner Suzannah J Bumpstead Yii-Der Ida Chen Peter Chines Robert Clarke Lachlan J M Coin Matthew N Cooper Laura Crisponi Ian N M Day Eco J C de Geus Jerome Delplanque Annette C Fedson Antje Fischer-Rosinsky Nita G Forouhi Maria Grazia Franzosi Pilar Galan Mark O Goodarzi Jürgen Graessler Scott Grundy Rhian Gwilliam Göran Hallmans Naomi Hammond Xijing Han Anna-Liisa Hartikainen Caroline Hayward Simon C Heath Serge Hercberg David R Hillman Aroon D Hingorani Jennie Hui Joe Hung Marika Kaakinen Jaakko Kaprio Y Antero Kesaniemi Mika Kivimaki Beatrice Knight Seppo Koskinen Peter Kovacs Kirsten Ohm Kyvik G Mark Lathrop Debbie A Lawlor Olivier Le Bacquer Cécile Lecoeur Yun Li Robert Mahley Massimo Mangino María Teresa Martínez-Larrad Jarred B McAteer Ruth McPherson Christa Meisinger David Melzer David Meyre Braxton D Mitchell Sutapa Mukherjee Silvia Naitza Matthew J Neville Marco Orrù Ruth Pakyz Giuseppe Paolisso Cristian Pattaro Daniel Pearson John F Peden Nancy L Pedersen Andreas F H Pfeiffer Irene Pichler Ozren Polasek Danielle Posthuma Simon C Potter Anneli Pouta Michael A Province Nigel W Rayner Kenneth Rice Samuli Ripatti Fernando Rivadeneira Olov Rolandsson Annelli Sandbaek Manjinder Sandhu Serena Sanna Avan Aihie Sayer Paul Scheet Udo Seedorf Stephen J Sharp Beverley Shields Gunnar Sigurðsson Eric J G Sijbrands Angela Silveira Laila Simpson Andrew Singleton Nicholas L Smith Ulla Sovio Amy Swift Holly Syddall Ann-Christine Syvänen Anke Tönjes André G Uitterlinden Ko Willems van Dijk Dhiraj Varma Sophie Visvikis-Siest Veronique Vitart Nicole Vogelzangs Gérard Waeber Peter J Wagner Andrew Walley Kim L Ward Hugh Watkins Sarah H Wild Gonneke Willemsen Jaqueline C M Witteman John W G Yarnell Diana Zelenika Björn Zethelius Guangju Zhai Jing Hua Zhao M Carola Zillikens Ingrid B Borecki Pierre Meneton Patrik K E Magnusson David M Nathan Gordon H Williams Kaisa Silander Stefan R Bornstein Peter Schwarz Joachim Spranger Fredrik Karpe Alan R Shuldiner Cyrus Cooper Manuel Serrano-Ríos Lars Lind Lyle J Palmer Frank B Hu Paul W Franks Shah Ebrahim Michael Marmot W H Linda Kao Peter Paul Pramstaller Alan F Wright Michael Stumvoll Anders Hamsten Thomas A Buchanan Timo T Valle Jerome I Rotter Brenda W J H Penninx Dorret I Boomsma Antonio Cao Angelo Scuteri David Schlessinger Manuela Uda Aimo Ruokonen Marjo-Riitta Jarvelin Leena Peltonen Vincent Mooser Robert Sladek Kiran Musunuru Albert V Smith Andrew C Edmondson Ioannis M Stylianou Masahiro Koseki James P Pirruccello Daniel I Chasman Christopher T Johansen Sigrid W Fouchier Gina M Peloso Maja Barbalic Sally L Ricketts Joshua C Bis Mary F Feitosa Marju Orho-Melander Olle Melander Xiaohui Li Mingyao Li Yoon Shin Cho Min Jin Go Young Jin Kim Jong-Young Lee Taesung Park Kyunga Kim Xueling Sim Rick Twee-Hee Ong Damien C Croteau-Chonka Leslie A Lange Joshua D Smith Andreas Ziegler Weihua Zhang Robert Y L Zee John B Whitfield John R Thompson Ida Surakka Tim D Spector Johannes H Smit Juha Sinisalo James Scott Juha Saharinen Chiara Sabatti Lynda M Rose Robert Roberts Mark Rieder Alex N Parker Guillaume Pare Christopher J O'Donnell Markku S Nieminen Deborah A Nickerson Grant W Montgomery Wendy McArdle David Masson Nicholas G Martin Fabio Marroni Gavin Lucas Robert Luben Marja-Liisa Lokki Guillaume Lettre Lenore J Launer Edward G Lakatta Reijo Laaksonen Kirsten O Kyvik Inke R König Kay-Tee Khaw Lee M Kaplan Åsa Johansson A Cecile J W Janssens Wilmar Igl G Kees Hovingh Christian Hengstenberg Aki S Havulinna Nicholas D Hastie Tamara B Harris Talin Haritunians Alistair S Hall Leif C Groop Elena Gonzalez Nelson B Freimer Jeanette Erdmann Kenechi G Ejebe Angela Döring Anna F Dominiczak Serkalem Demissie Panagiotis Deloukas Ulf de Faire Gabriel Crawford Yii-der I Chen Mark J Caulfield S Matthijs Boekholdt Themistocles L Assimes Thomas Quertermous Mark Seielstad Tien Y Wong E-Shyong Tai Alan B Feranil Christopher W Kuzawa Herman A Taylor Stacey B Gabriel Hilma Holm Vilmundur Gudnason Ronald M Krauss Jose M Ordovas Patricia B Munroe Jaspal S Kooner Alan R Tall Robert A Hegele John J P Kastelein Eric E Schadt David P Strachan Muredach P Reilly Nilesh J Samani Heribert Schunkert L Adrienne Cupples Manjinder S Sandhu Paul M Ridker Daniel J Rader Sekar Kathiresan

PLoS Genet 2012 29;8(3):e1002607. Epub 2012 Mar 29.

Department of Epidemiology, Biostatistics, and Occupational Health, Jewish General Hospital, Lady Davis Institute, McGill University, Montreal, Canada.

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September 2012

Pacific biosciences sequencing technology for genotyping and variation discovery in human data.

BMC Genomics 2012 Aug 5;13:375. Epub 2012 Aug 5.

Broad Institute of MIT and Harvard, Medical and Population Genetics Program, Cambridge, MA 02141, USA.

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August 2012

Spectrum of somatic mitochondrial mutations in five cancers.

Proc Natl Acad Sci U S A 2012 Aug 13;109(35):14087-91. Epub 2012 Aug 13.

Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.

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August 2012

Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance.

Neurology 2012 Aug 15;79(9):946-8. Epub 2012 Aug 15.

Department of Neurology, MS Center, and Laboratory of Neuroimmunology and the Agnes-Ginges Center for Neurogenetics, Hadassah-Hebrew University Medical Center, Ein-Karem, Jerusalem, Israel.

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August 2012

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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September 2010

Biological, clinical and population relevance of 95 loci for blood lipids.

Authors:
Tanya M Teslovich Kiran Musunuru Albert V Smith Andrew C Edmondson Ioannis M Stylianou Masahiro Koseki James P Pirruccello Samuli Ripatti Daniel I Chasman Cristen J Willer Christopher T Johansen Sigrid W Fouchier Aaron Isaacs Gina M Peloso Maja Barbalic Sally L Ricketts Joshua C Bis Yurii S Aulchenko Gudmar Thorleifsson Mary F Feitosa John Chambers Marju Orho-Melander Olle Melander Toby Johnson Xiaohui Li Xiuqing Guo Mingyao Li Yoon Shin Cho Min Jin Go Young Jin Kim Jong-Young Lee Taesung Park Kyunga Kim Xueling Sim Rick Twee-Hee Ong Damien C Croteau-Chonka Leslie A Lange Joshua D Smith Kijoung Song Jing Hua Zhao Xin Yuan Jian'an Luan Claudia Lamina Andreas Ziegler Weihua Zhang Robert Y L Zee Alan F Wright Jacqueline C M Witteman James F Wilson Gonneke Willemsen H-Erich Wichmann John B Whitfield Dawn M Waterworth Nicholas J Wareham Gérard Waeber Peter Vollenweider Benjamin F Voight Veronique Vitart Andre G Uitterlinden Manuela Uda Jaakko Tuomilehto John R Thompson Toshiko Tanaka Ida Surakka Heather M Stringham Tim D Spector Nicole Soranzo Johannes H Smit Juha Sinisalo Kaisa Silander Eric J G Sijbrands Angelo Scuteri James Scott David Schlessinger Serena Sanna Veikko Salomaa Juha Saharinen Chiara Sabatti Aimo Ruokonen Igor Rudan Lynda M Rose Robert Roberts Mark Rieder Bruce M Psaty Peter P Pramstaller Irene Pichler Markus Perola Brenda W J H Penninx Nancy L Pedersen Cristian Pattaro Alex N Parker Guillaume Pare Ben A Oostra Christopher J O'Donnell Markku S Nieminen Deborah A Nickerson Grant W Montgomery Thomas Meitinger Ruth McPherson Mark I McCarthy Wendy McArdle David Masson Nicholas G Martin Fabio Marroni Massimo Mangino Patrik K E Magnusson Gavin Lucas Robert Luben Ruth J F Loos Marja-Liisa Lokki Guillaume Lettre Claudia Langenberg Lenore J Launer Edward G Lakatta Reijo Laaksonen Kirsten O Kyvik Florian Kronenberg Inke R König Kay-Tee Khaw Jaakko Kaprio Lee M Kaplan Asa Johansson Marjo-Riitta Jarvelin A Cecile J W Janssens Erik Ingelsson Wilmar Igl G Kees Hovingh Jouke-Jan Hottenga Albert Hofman Andrew A Hicks Christian Hengstenberg Iris M Heid Caroline Hayward Aki S Havulinna Nicholas D Hastie Tamara B Harris Talin Haritunians Alistair S Hall Ulf Gyllensten Candace Guiducci Leif C Groop Elena Gonzalez Christian Gieger Nelson B Freimer Luigi Ferrucci Jeanette Erdmann Paul Elliott Kenechi G Ejebe Angela Döring Anna F Dominiczak Serkalem Demissie Panagiotis Deloukas Eco J C de Geus Ulf de Faire Gabriel Crawford Francis S Collins Yii-der I Chen Mark J Caulfield Harry Campbell Noel P Burtt Lori L Bonnycastle Dorret I Boomsma S Matthijs Boekholdt Richard N Bergman Inês Barroso Stefania Bandinelli Christie M Ballantyne Themistocles L Assimes Thomas Quertermous David Altshuler Mark Seielstad Tien Y Wong E-Shyong Tai Alan B Feranil Christopher W Kuzawa Linda S Adair Herman A Taylor Ingrid B Borecki Stacey B Gabriel James G Wilson Hilma Holm Unnur Thorsteinsdottir Vilmundur Gudnason Ronald M Krauss Karen L Mohlke Jose M Ordovas Patricia B Munroe Jaspal S Kooner Alan R Tall Robert A Hegele John J P Kastelein Eric E Schadt Jerome I Rotter Eric Boerwinkle David P Strachan Vincent Mooser Kari Stefansson Muredach P Reilly Nilesh J Samani Heribert Schunkert L Adrienne Cupples Manjinder S Sandhu Paul M Ridker Daniel J Rader Cornelia M van Duijn Leena Peltonen Gonçalo R Abecasis Michael Boehnke Sekar Kathiresan

Nature 2010 Aug;466(7307):707-13

Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.

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August 2010

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.

Authors:
Sekar Kathiresan Benjamin F Voight Shaun Purcell Kiran Musunuru Diego Ardissino Pier M Mannucci Sonia Anand James C Engert Nilesh J Samani Heribert Schunkert Jeanette Erdmann Muredach P Reilly Daniel J Rader Thomas Morgan John A Spertus Monika Stoll Domenico Girelli Pascal P McKeown Chris C Patterson David S Siscovick Christopher J O'Donnell Roberto Elosua Leena Peltonen Veikko Salomaa Stephen M Schwartz Olle Melander David Altshuler Diego Ardissino Pier Angelica Merlini Carlo Berzuini Luisa Bernardinelli Flora Peyvandi Marco Tubaro Patrizia Celli Maurizio Ferrario Raffaela Fetiveau Nicola Marziliano Giorgio Casari Michele Galli Flavio Ribichini Marco Rossi Francesco Bernardi Pietro Zonzin Alberto Piazza Pier M Mannucci Stephen M Schwartz David S Siscovick Jean Yee Yechiel Friedlander Roberto Elosua Jaume Marrugat Gavin Lucas Isaac Subirana Joan Sala Rafael Ramos Sekar Kathiresan James B Meigs Gordon Williams David M Nathan Calum A MacRae Christopher J O'Donnell Veikko Salomaa Aki S Havulinna Leena Peltonen Olle Melander Goran Berglund Benjamin F Voight Sekar Kathiresan Joel N Hirschhorn Rosanna Asselta Stefano Duga Marta Spreafico Kiran Musunuru Mark J Daly Shaun Purcell Benjamin F Voight Shaun Purcell James Nemesh Joshua M Korn Steven A McCarroll Stephen M Schwartz Jean Yee Sekar Kathiresan Gavin Lucas Isaac Subirana Roberto Elosua Aarti Surti Candace Guiducci Lauren Gianniny Daniel Mirel Melissa Parkin Noel Burtt Stacey B Gabriel Nilesh J Samani John R Thompson Peter S Braund Benjamin J Wright Anthony J Balmforth Stephen G Ball Alistair S Hall Heribert Schunkert Jeanette Erdmann Patrick Linsel-Nitschke Wolfgang Lieb Andreas Ziegler Inke König Christian Hengstenberg Marcus Fischer Klaus Stark Anika Grosshennig Michael Preuss H-Erich Wichmann Stefan Schreiber Heribert Schunkert Nilesh J Samani Jeanette Erdmann Willem Ouwehand Christian Hengstenberg Panos Deloukas Michael Scholz Francois Cambien Muredach P Reilly Mingyao Li Zhen Chen Robert Wilensky William Matthai Atif Qasim Hakon H Hakonarson Joe Devaney Mary-Susan Burnett Augusto D Pichard Kenneth M Kent Lowell Satler Joseph M Lindsay Ron Waksman Christopher W Knouff Dawn M Waterworth Max C Walker Vincent Mooser Stephen E Epstein Daniel J Rader Thomas Scheffold Klaus Berger Monika Stoll Andreas Huge Domenico Girelli Nicola Martinelli Oliviero Olivieri Roberto Corrocher Thomas Morgan John A Spertus Pascal McKeown Chris C Patterson Heribert Schunkert Erdmann Erdmann Patrick Linsel-Nitschke Wolfgang Lieb Andreas Ziegler Inke R König Christian Hengstenberg Marcus Fischer Klaus Stark Anika Grosshennig Michael Preuss H-Erich Wichmann Stefan Schreiber Hilma Hólm Gudmar Thorleifsson Unnur Thorsteinsdottir Kari Stefansson James C Engert Ron Do Changchun Xie Sonia Anand Sekar Kathiresan Diego Ardissino Pier M Mannucci David Siscovick Christopher J O'Donnell Nilesh J Samani Olle Melander Roberto Elosua Leena Peltonen Veikko Salomaa Stephen M Schwartz David Altshuler

Nat Genet 2009 Mar 8;41(3):334-41. Epub 2009 Feb 8.

Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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March 2009

Somatic mutations affect key pathways in lung adenocarcinoma.

Nature 2008 Oct;455(7216):1069-75

The Genome Center at Washington University, Department of Genetics, Washington University School of Medicine, St Louis, Missouri 63108, USA.

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October 2008

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.

Nat Genet 2008 Sep;40(9):1056-8

Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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September 2008

A second generation human haplotype map of over 3.1 million SNPs.

Authors:
Kelly A Frazer Dennis G Ballinger David R Cox David A Hinds Laura L Stuve Richard A Gibbs John W Belmont Andrew Boudreau Paul Hardenbol Suzanne M Leal Shiran Pasternak David A Wheeler Thomas D Willis Fuli Yu Huanming Yang Changqing Zeng Yang Gao Haoran Hu Weitao Hu Chaohua Li Wei Lin Siqi Liu Hao Pan Xiaoli Tang Jian Wang Wei Wang Jun Yu Bo Zhang Qingrun Zhang Hongbin Zhao Hui Zhao Jun Zhou Stacey B Gabriel Rachel Barry Brendan Blumenstiel Amy Camargo Matthew Defelice Maura Faggart Mary Goyette Supriya Gupta Jamie Moore Huy Nguyen Robert C Onofrio Melissa Parkin Jessica Roy Erich Stahl Ellen Winchester Liuda Ziaugra David Altshuler Yan Shen Zhijian Yao Wei Huang Xun Chu Yungang He Li Jin Yangfan Liu Yayun Shen Weiwei Sun Haifeng Wang Yi Wang Ying Wang Xiaoyan Xiong Liang Xu Mary M Y Waye Stephen K W Tsui Hong Xue J Tze-Fei Wong Luana M Galver Jian-Bing Fan Kevin Gunderson Sarah S Murray Arnold R Oliphant Mark S Chee Alexandre Montpetit Fanny Chagnon Vincent Ferretti Martin Leboeuf Jean-François Olivier Michael S Phillips Stéphanie Roumy Clémentine Sallée Andrei Verner Thomas J Hudson Pui-Yan Kwok Dongmei Cai Daniel C Koboldt Raymond D Miller Ludmila Pawlikowska Patricia Taillon-Miller Ming Xiao Lap-Chee Tsui William Mak You Qiang Song Paul K H Tam Yusuke Nakamura Takahisa Kawaguchi Takuya Kitamoto Takashi Morizono Atsushi Nagashima Yozo Ohnishi Akihiro Sekine Toshihiro Tanaka Tatsuhiko Tsunoda Panos Deloukas Christine P Bird Marcos Delgado Emmanouil T Dermitzakis Rhian Gwilliam Sarah Hunt Jonathan Morrison Don Powell Barbara E Stranger Pamela Whittaker David R Bentley Mark J Daly Paul I W de Bakker Jeff Barrett Yves R Chretien Julian Maller Steve McCarroll Nick Patterson Itsik Pe'er Alkes Price Shaun Purcell Daniel J Richter Pardis Sabeti Richa Saxena Stephen F Schaffner Pak C Sham Patrick Varilly David Altshuler Lincoln D Stein Lalitha Krishnan Albert Vernon Smith Marcela K Tello-Ruiz Gudmundur A Thorisson Aravinda Chakravarti Peter E Chen David J Cutler Carl S Kashuk Shin Lin Gonçalo R Abecasis Weihua Guan Yun Li Heather M Munro Zhaohui Steve Qin Daryl J Thomas Gilean McVean Adam Auton Leonardo Bottolo Niall Cardin Susana Eyheramendy Colin Freeman Jonathan Marchini Simon Myers Chris Spencer Matthew Stephens Peter Donnelly Lon R Cardon Geraldine Clarke David M Evans Andrew P Morris Bruce S Weir Tatsuhiko Tsunoda James C Mullikin Stephen T Sherry Michael Feolo Andrew Skol Houcan Zhang Changqing Zeng Hui Zhao Ichiro Matsuda Yoshimitsu Fukushima Darryl R Macer Eiko Suda Charles N Rotimi Clement A Adebamowo Ike Ajayi Toyin Aniagwu Patricia A Marshall Chibuzor Nkwodimmah Charmaine D M Royal Mark F Leppert Missy Dixon Andy Peiffer Renzong Qiu Alastair Kent Kazuto Kato Norio Niikawa Isaac F Adewole Bartha M Knoppers Morris W Foster Ellen Wright Clayton Jessica Watkin Richard A Gibbs John W Belmont Donna Muzny Lynne Nazareth Erica Sodergren George M Weinstock David A Wheeler Imtaz Yakub Stacey B Gabriel Robert C Onofrio Daniel J Richter Liuda Ziaugra Bruce W Birren Mark J Daly David Altshuler Richard K Wilson Lucinda L Fulton Jane Rogers John Burton Nigel P Carter Christopher M Clee Mark Griffiths Matthew C Jones Kirsten McLay Robert W Plumb Mark T Ross Sarah K Sims David L Willey Zhu Chen Hua Han Le Kang Martin Godbout John C Wallenburg Paul L'Archevêque Guy Bellemare Koji Saeki Hongguang Wang Daochang An Hongbo Fu Qing Li Zhen Wang Renwu Wang Arthur L Holden Lisa D Brooks Jean E McEwen Mark S Guyer Vivian Ota Wang Jane L Peterson Michael Shi Jack Spiegel Lawrence M Sung Lynn F Zacharia Francis S Collins Karen Kennedy Ruth Jamieson John Stewart

Nature 2007 Oct;449(7164):851-61

The Scripps Research Institute, 10550 North Torrey Pines Road MEM275, La Jolla, California 92037, USA.

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October 2007

Genome-wide detection and characterization of positive selection in human populations.

Authors:
Pardis C Sabeti Patrick Varilly Ben Fry Jason Lohmueller Elizabeth Hostetter Chris Cotsapas Xiaohui Xie Elizabeth H Byrne Steven A McCarroll Rachelle Gaudet Stephen F Schaffner Eric S Lander Kelly A Frazer Dennis G Ballinger David R Cox David A Hinds Laura L Stuve Richard A Gibbs John W Belmont Andrew Boudreau Paul Hardenbol Suzanne M Leal Shiran Pasternak David A Wheeler Thomas D Willis Fuli Yu Huanming Yang Changqing Zeng Yang Gao Haoran Hu Weitao Hu Chaohua Li Wei Lin Siqi Liu Hao Pan Xiaoli Tang Jian Wang Wei Wang Jun Yu Bo Zhang Qingrun Zhang Hongbin Zhao Hui Zhao Jun Zhou Stacey B Gabriel Rachel Barry Brendan Blumenstiel Amy Camargo Matthew Defelice Maura Faggart Mary Goyette Supriya Gupta Jamie Moore Huy Nguyen Robert C Onofrio Melissa Parkin Jessica Roy Erich Stahl Ellen Winchester Liuda Ziaugra David Altshuler Yan Shen Zhijian Yao Wei Huang Xun Chu Yungang He Li Jin Yangfan Liu Yayun Shen Weiwei Sun Haifeng Wang Yi Wang Ying Wang Xiaoyan Xiong Liang Xu Mary M Y Waye Stephen K W Tsui Hong Xue J Tze-Fei Wong Luana M Galver Jian-Bing Fan Kevin Gunderson Sarah S Murray Arnold R Oliphant Mark S Chee Alexandre Montpetit Fanny Chagnon Vincent Ferretti Martin Leboeuf Jean-François Olivier Michael S Phillips Stéphanie Roumy Clémentine Sallée Andrei Verner Thomas J Hudson Pui-Yan Kwok Dongmei Cai Daniel C Koboldt Raymond D Miller Ludmila Pawlikowska Patricia Taillon-Miller Ming Xiao Lap-Chee Tsui William Mak You Qiang Song Paul K H Tam Yusuke Nakamura Takahisa Kawaguchi Takuya Kitamoto Takashi Morizono Atsushi Nagashima Yozo Ohnishi Akihiro Sekine Toshihiro Tanaka Tatsuhiko Tsunoda Panos Deloukas Christine P Bird Marcos Delgado Emmanouil T Dermitzakis Rhian Gwilliam Sarah Hunt Jonathan Morrison Don Powell Barbara E Stranger Pamela Whittaker David R Bentley Mark J Daly Paul I W de Bakker Jeff Barrett Yves R Chretien Julian Maller Steve McCarroll Nick Patterson Itsik Pe'er Alkes Price Shaun Purcell Daniel J Richter Pardis Sabeti Richa Saxena Stephen F Schaffner Pak C Sham Patrick Varilly David Altshuler Lincoln D Stein Lalitha Krishnan Albert Vernon Smith Marcela K Tello-Ruiz Gudmundur A Thorisson Aravinda Chakravarti Peter E Chen David J Cutler Carl S Kashuk Shin Lin Gonçalo R Abecasis Weihua Guan Yun Li Heather M Munro Zhaohui Steve Qin Daryl J Thomas Gilean McVean Adam Auton Leonardo Bottolo Niall Cardin Susana Eyheramendy Colin Freeman Jonathan Marchini Simon Myers Chris Spencer Matthew Stephens Peter Donnelly Lon R Cardon Geraldine Clarke David M Evans Andrew P Morris Bruce S Weir Tatsuhiko Tsunoda Todd A Johnson James C Mullikin Stephen T Sherry Michael Feolo Andrew Skol Houcan Zhang Changqing Zeng Hui Zhao Ichiro Matsuda Yoshimitsu Fukushima Darryl R Macer Eiko Suda Charles N Rotimi Clement A Adebamowo Ike Ajayi Toyin Aniagwu Patricia A Marshall Chibuzor Nkwodimmah Charmaine D M Royal Mark F Leppert Missy Dixon Andy Peiffer Renzong Qiu Alastair Kent Kazuto Kato Norio Niikawa Isaac F Adewole Bartha M Knoppers Morris W Foster Ellen Wright Clayton Jessica Watkin Richard A Gibbs John W Belmont Donna Muzny Lynne Nazareth Erica Sodergren George M Weinstock David A Wheeler Imtaz Yakub Stacey B Gabriel Robert C Onofrio Daniel J Richter Liuda Ziaugra Bruce W Birren Mark J Daly David Altshuler Richard K Wilson Lucinda L Fulton Jane Rogers John Burton Nigel P Carter Christopher M Clee Mark Griffiths Matthew C Jones Kirsten McLay Robert W Plumb Mark T Ross Sarah K Sims David L Willey Zhu Chen Hua Han Le Kang Martin Godbout John C Wallenburg Paul L'Archevêque Guy Bellemare Koji Saeki Hongguang Wang Daochang An Hongbo Fu Qing Li Zhen Wang Renwu Wang Arthur L Holden Lisa D Brooks Jean E McEwen Mark S Guyer Vivian Ota Wang Jane L Peterson Michael Shi Jack Spiegel Lawrence M Sung Lynn F Zacharia Francis S Collins Karen Kennedy Ruth Jamieson John Stewart

Nature 2007 Oct;449(7164):913-8

Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA.

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October 2007