Mark J Daly

Mark J Daly

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Mark J Daly

Mark J Daly

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Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland.

Am J Hum Genet 2019 Jun 30;104(6):1169-1181. Epub 2019 May 30.

Institute for Molecular Medicine Finland, Helsinki Institute of Life Sciences, University of Helsinki, Helsinki 00014, Finland; Department of Public Health, University of Helsinki, Helsinki 00014, Finland; Helsinki Institute for Information Technology and Department of Mathematics and Statistics, University of Helsinki, Helsinki 00014, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.05.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562021PMC
June 2019

Recessive gene disruptions in autism spectrum disorder.

Nat Genet 2019 Jun 17. Epub 2019 Jun 17.

Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41588-019-0433-8DOI Listing
June 2019

Genome-wide association study identifies 30 loci associated with bipolar disorder.

Authors:
Eli A Stahl Gerome Breen Andreas J Forstner Andrew McQuillin Stephan Ripke Vassily Trubetskoy Manuel Mattheisen Yunpeng Wang Jonathan R I Coleman Héléna A Gaspar Christiaan A de Leeuw Stacy Steinberg Jennifer M Whitehead Pavlides Maciej Trzaskowski Enda M Byrne Tune H Pers Peter A Holmans Alexander L Richards Liam Abbott Esben Agerbo Huda Akil Diego Albani Ney Alliey-Rodriguez Thomas D Als Adebayo Anjorin Verneri Antilla Swapnil Awasthi Judith A Badner Marie Bækvad-Hansen Jack D Barchas Nicholas Bass Michael Bauer Richard Belliveau Sarah E Bergen Carsten Bøcker Pedersen Erlend Bøen Marco P Boks James Boocock Monika Budde William Bunney Margit Burmeister Jonas Bybjerg-Grauholm William Byerley Miquel Casas Felecia Cerrato Pablo Cervantes Kimberly Chambert Alexander W Charney Danfeng Chen Claire Churchhouse Toni-Kim Clarke William Coryell David W Craig Cristiana Cruceanu David Curtis Piotr M Czerski Anders M Dale Simone de Jong Franziska Degenhardt Jurgen Del-Favero J Raymond DePaulo Srdjan Djurovic Amanda L Dobbyn Ashley Dumont Torbjørn Elvsåshagen Valentina Escott-Price Chun Chieh Fan Sascha B Fischer Matthew Flickinger Tatiana M Foroud Liz Forty Josef Frank Christine Fraser Nelson B Freimer Louise Frisén Katrin Gade Diane Gage Julie Garnham Claudia Giambartolomei Marianne Giørtz Pedersen Jaqueline Goldstein Scott D Gordon Katherine Gordon-Smith Elaine K Green Melissa J Green Tiffany A Greenwood Jakob Grove Weihua Guan José Guzman-Parra Marian L Hamshere Martin Hautzinger Urs Heilbronner Stefan Herms Maria Hipolito Per Hoffmann Dominic Holland Laura Huckins Stéphane Jamain Jessica S Johnson Anders Juréus Radhika Kandaswamy Robert Karlsson James L Kennedy Sarah Kittel-Schneider James A Knowles Manolis Kogevinas Anna C Koller Ralph Kupka Catharina Lavebratt Jacob Lawrence William B Lawson Markus Leber Phil H Lee Shawn E Levy Jun Z Li Chunyu Liu Susanne Lucae Anna Maaser Donald J MacIntyre Pamela B Mahon Wolfgang Maier Lina Martinsson Steve McCarroll Peter McGuffin Melvin G McInnis James D McKay Helena Medeiros Sarah E Medland Fan Meng Lili Milani Grant W Montgomery Derek W Morris Thomas W Mühleisen Niamh Mullins Hoang Nguyen Caroline M Nievergelt Annelie Nordin Adolfsson Evaristus A Nwulia Claire O'Donovan Loes M Olde Loohuis Anil P S Ori Lilijana Oruc Urban Ösby Roy H Perlis Amy Perry Andrea Pfennig James B Potash Shaun M Purcell Eline J Regeer Andreas Reif Céline S Reinbold John P Rice Fabio Rivas Margarita Rivera Panos Roussos Douglas M Ruderfer Euijung Ryu Cristina Sánchez-Mora Alan F Schatzberg William A Scheftner Nicholas J Schork Cynthia Shannon Weickert Tatyana Shehktman Paul D Shilling Engilbert Sigurdsson Claire Slaney Olav B Smeland Janet L Sobell Christine Søholm Hansen Anne T Spijker David St Clair Michael Steffens John S Strauss Fabian Streit Jana Strohmaier Szabolcs Szelinger Robert C Thompson Thorgeir E Thorgeirsson Jens Treutlein Helmut Vedder Weiqing Wang Stanley J Watson Thomas W Weickert Stephanie H Witt Simon Xi Wei Xu Allan H Young Peter Zandi Peng Zhang Sebastian Zöllner Rolf Adolfsson Ingrid Agartz Martin Alda Lena Backlund Bernhard T Baune Frank Bellivier Wade H Berrettini Joanna M Biernacka Douglas H R Blackwood Michael Boehnke Anders D Børglum Aiden Corvin Nicholas Craddock Mark J Daly Udo Dannlowski Tõnu Esko Bruno Etain Mark Frye Janice M Fullerton Elliot S Gershon Michael Gill Fernando Goes Maria Grigoroiu-Serbanescu Joanna Hauser David M Hougaard Christina M Hultman Ian Jones Lisa A Jones René S Kahn George Kirov Mikael Landén Marion Leboyer Cathryn M Lewis Qingqin S Li Jolanta Lissowska Nicholas G Martin Fermin Mayoral Susan L McElroy Andrew M McIntosh Francis J McMahon Ingrid Melle Andres Metspalu Philip B Mitchell Gunnar Morken Ole Mors Preben Bo Mortensen Bertram Müller-Myhsok Richard M Myers Benjamin M Neale Vishwajit Nimgaonkar Merete Nordentoft Markus M Nöthen Michael C O'Donovan Ketil J Oedegaard Michael J Owen Sara A Paciga Carlos Pato Michele T Pato Danielle Posthuma Josep Antoni Ramos-Quiroga Marta Ribasés Marcella Rietschel Guy A Rouleau Martin Schalling Peter R Schofield Thomas G Schulze Alessandro Serretti Jordan W Smoller Hreinn Stefansson Kari Stefansson Eystein Stordal Patrick F Sullivan Gustavo Turecki Arne E Vaaler Eduard Vieta John B Vincent Thomas Werge John I Nurnberger Naomi R Wray Arianna Di Florio Howard J Edenberg Sven Cichon Roel A Ophoff Laura J Scott Ole A Andreassen John Kelsoe Pamela Sklar

Nat Genet 2019 05 1;51(5):793-803. Epub 2019 May 1.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://www.nature.com/articles/s41588-019-0397-8
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http://dx.doi.org/10.1038/s41588-019-0397-8DOI Listing
May 2019

Clinical use of current polygenic risk scores may exacerbate health disparities.

Nat Genet 2019 04 29;51(4):584-591. Epub 2019 Mar 29.

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

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http://dx.doi.org/10.1038/s41588-019-0379-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563838PMC
April 2019

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.

Hum Genomics 2019 Apr 16;13(1):19. Epub 2019 Apr 16.

Center for Human Disease Modeling, Duke University Medical Center, Carmichael Building, 300 North Duke Street, Suite 48-118, Durham, NC, 27701, USA.

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http://dx.doi.org/10.1186/s40246-019-0203-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469102PMC
April 2019

Applicability of the mutation-selection balance model to population genetics of heterozygous protein-truncating variants in humans.

Mol Biol Evol 2019 Apr 19. Epub 2019 Apr 19.

Brigham and Women's Hospital, Division of Genetics, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1093/molbev/msz092DOI Listing
April 2019

Identification of common genetic risk variants for autism spectrum disorder.

Nat Genet 2019 03 25;51(3):431-444. Epub 2019 Feb 25.

The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.

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http://dx.doi.org/10.1038/s41588-019-0344-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454898PMC
March 2019

2018 William Allan Award Introduction: Eric S. Lander.

Authors:
Mark J Daly

Am J Hum Genet 2019 Mar;104(3):373-374

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; Institute for Molecular Medicine Finland, Helsinki 00290, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407490PMC
March 2019

Burden of unique and low prevalence somatic mutations correlates with cancer survival.

Sci Rep 2019 Mar 19;9(1):4848. Epub 2019 Mar 19.

Wellman Center for Photomedicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41598-019-41015-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425006PMC
March 2019

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.

Nat Genet 2019 01 26;51(1):63-75. Epub 2018 Nov 26.

Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

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http://www.nature.com/articles/s41588-018-0269-7
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http://dx.doi.org/10.1038/s41588-018-0269-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481311PMC
January 2019

The critical needs and challenges for genetic architecture studies in Africa.

Curr Opin Genet Dev 2018 12 18;53:113-120. Epub 2018 Sep 18.

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.gde.2018.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6494470PMC
December 2018

Predicting Polygenic Risk of Psychiatric Disorders.

Biol Psychiatry 2018 Dec 28. Epub 2018 Dec 28.

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts.

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http://dx.doi.org/10.1016/j.biopsych.2018.12.015DOI Listing
December 2018

Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.

Epilepsia 2018 11 20;59(11):2145-2152. Epub 2018 Oct 20.

Cologne Center for Genomics, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1111/epi.14579DOI Listing
November 2018

Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides.

Genome Res 2018 07 1;28(7):968-974. Epub 2018 Jun 1.

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

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http://dx.doi.org/10.1101/gr.231902.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028136PMC
July 2018

Genetic variants in cellular transport do not affect mesalamine response in ulcerative colitis.

PLoS One 2018 26;13(3):e0192806. Epub 2018 Mar 26.

Division of Pediatric Gastroenterology, Hepatology, & Nutrition, MassGeneral Hospital for Children, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0192806PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5868763PMC
June 2018

Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland.

Am J Hum Genet 2018 05 26;102(5):760-775. Epub 2018 Apr 26.

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki 00014, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986696PMC
May 2018

2017 William Allan Award Introduction: Kári Stefansson.

Authors:
Mark J Daly

Am J Hum Genet 2018 Mar;102(3):350

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; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985355PMC
March 2018

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.

Authors:
Jason Flannick Christian Fuchsberger Anubha Mahajan Tanya M Teslovich Vineeta Agarwala Kyle J Gaulton Lizz Caulkins Ryan Koesterer Clement Ma Loukas Moutsianas Davis J McCarthy Manuel A Rivas John R B Perry Xueling Sim Thomas W Blackwell Neil R Robertson N William Rayner Pablo Cingolani Adam E Locke Juan Fernandez Tajes Heather M Highland Josee Dupuis Peter S Chines Cecilia M Lindgren Christopher Hartl Anne U Jackson Han Chen Jeroen R Huyghe Martijn van de Bunt Richard D Pearson Ashish Kumar Martina Müller-Nurasyid Niels Grarup Heather M Stringham Eric R Gamazon Jaehoon Lee Yuhui Chen Robert A Scott Jennifer E Below Peng Chen Jinyan Huang Min Jin Go Michael L Stitzel Dorota Pasko Stephen C J Parker Tibor V Varga Todd Green Nicola L Beer Aaron G Day-Williams Teresa Ferreira Tasha Fingerlin Momoko Horikoshi Cheng Hu Iksoo Huh Mohammad Kamran Ikram Bong-Jo Kim Yongkang Kim Young Jin Kim Min-Seok Kwon Juyoung Lee Selyeong Lee Keng-Han Lin Taylor J Maxwell Yoshihiko Nagai Xu Wang Ryan P Welch Joon Yoon Weihua Zhang Nir Barzilai Benjamin F Voight Bok-Ghee Han Christopher P Jenkinson Teemu Kuulasmaa Johanna Kuusisto Alisa Manning Maggie C Y Ng Nicholette D Palmer Beverley Balkau Alena Stančáková Hanna E Abboud Heiner Boeing Vilmantas Giedraitis Dorairaj Prabhakaran Omri Gottesman James Scott Jason Carey Phoenix Kwan George Grant Joshua D Smith Benjamin M Neale Shaun Purcell Adam S Butterworth Joanna M M Howson Heung Man Lee Yingchang Lu Soo-Heon Kwak Wei Zhao John Danesh Vincent K L Lam Kyong Soo Park Danish Saleheen Wing Yee So Claudia H T Tam Uzma Afzal David Aguilar Rector Arya Tin Aung Edmund Chan Carmen Navarro Ching-Yu Cheng Domenico Palli Adolfo Correa Joanne E Curran Dennis Rybin Vidya S Farook Sharon P Fowler Barry I Freedman Michael Griswold Daniel Esten Hale Pamela J Hicks Chiea-Chuen Khor Satish Kumar Benjamin Lehne Dorothée Thuillier Wei Yen Lim Jianjun Liu Marie Loh Solomon K Musani Sobha Puppala William R Scott Loïc Yengo Sian-Tsung Tan Herman A Taylor Farook Thameem Gregory Wilson Tien Yin Wong Pål Rasmus Njølstad Jonathan C Levy Massimo Mangino Lori L Bonnycastle Thomas Schwarzmayr João Fadista Gabriela L Surdulescu Christian Herder Christopher J Groves Thomas Wieland Jette Bork-Jensen Ivan Brandslund Cramer Christensen Heikki A Koistinen Alex S F Doney Leena Kinnunen Tõnu Esko Andrew J Farmer Liisa Hakaste Dylan Hodgkiss Jasmina Kravic Valeri Lyssenko Mette Hollensted Marit E Jørgensen Torben Jørgensen Claes Ladenvall Johanne Marie Justesen Annemari Käräjämäki Jennifer Kriebel Wolfgang Rathmann Lars Lannfelt Torsten Lauritzen Narisu Narisu Allan Linneberg Olle Melander Lili Milani Matt Neville Marju Orho-Melander Lu Qi Qibin Qi Michael Roden Olov Rolandsson Amy Swift Anders H Rosengren Kathleen Stirrups Andrew R Wood Evelin Mihailov Christine Blancher Mauricio O Carneiro Jared Maguire Ryan Poplin Khalid Shakir Timothy Fennell Mark DePristo Martin Hrabé de Angelis Panos Deloukas Anette P Gjesing Goo Jun Peter Nilsson Jacquelyn Murphy Robert Onofrio Barbara Thorand Torben Hansen Christa Meisinger Frank B Hu Bo Isomaa Fredrik Karpe Liming Liang Annette Peters Cornelia Huth Stephen P O'Rahilly Colin N A Palmer Oluf Pedersen Rainer Rauramaa Jaakko Tuomilehto Veikko Salomaa Richard M Watanabe Ann-Christine Syvänen Richard N Bergman Dwaipayan Bharadwaj Erwin P Bottinger Yoon Shin Cho Giriraj R Chandak Juliana C N Chan Kee Seng Chia Mark J Daly Shah B Ebrahim Claudia Langenberg Paul Elliott Kathleen A Jablonski Donna M Lehman Weiping Jia Ronald C W Ma Toni I Pollin Manjinder Sandhu Nikhil Tandon Philippe Froguel Inês Barroso Yik Ying Teo Eleftheria Zeggini Ruth J F Loos Kerrin S Small Janina S Ried Ralph A DeFronzo Harald Grallert Benjamin Glaser Andres Metspalu Nicholas J Wareham Mark Walker Eric Banks Christian Gieger Erik Ingelsson Hae Kyung Im Thomas Illig Paul W Franks Gemma Buck Joseph Trakalo David Buck Inga Prokopenko Reedik Mägi Lars Lind Yossi Farjoun Katharine R Owen Anna L Gloyn Konstantin Strauch Tiinamaija Tuomi Jaspal Singh Kooner Jong-Young Lee Taesung Park Peter Donnelly Andrew D Morris Andrew T Hattersley Donald W Bowden Francis S Collins Gil Atzmon John C Chambers Timothy D Spector Markku Laakso Tim M Strom Graeme I Bell John Blangero Ravindranath Duggirala E Shyong Tai Gilean McVean Craig L Hanis James G Wilson Mark Seielstad Timothy M Frayling James B Meigs Nancy J Cox Rob Sladek Eric S Lander Stacey Gabriel Karen L Mohlke Thomas Meitinger Leif Groop Goncalo Abecasis Laura J Scott Andrew P Morris Hyun Min Kang David Altshuler Noël P Burtt Jose C Florez Michael Boehnke Mark I McCarthy

Sci Data 2018 01 23;5:180002. Epub 2018 Jan 23.

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http://dx.doi.org/10.1038/sdata.2018.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5779067PMC
January 2018

Host genetic variation and its microbiome interactions within the Human Microbiome Project.

Genome Med 2018 01 29;10(1). Epub 2018 Jan 29.

Department of Biostatistics, Harvard T. H. Chan School of Public Health, 655 Huntington Ave, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1186/s13073-018-0515-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5789541PMC
January 2018

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.

Authors:
Jason Flannick Christian Fuchsberger Anubha Mahajan Tanya M Teslovich Vineeta Agarwala Kyle J Gaulton Lizz Caulkins Ryan Koesterer Clement Ma Loukas Moutsianas Davis J McCarthy Manuel A Rivas John R B Perry Xueling Sim Thomas W Blackwell Neil R Robertson N William Rayner Pablo Cingolani Adam E Locke Juan Fernandez Tajes Heather M Highland Josee Dupuis Peter S Chines Cecilia M Lindgren Christopher Hartl Anne U Jackson Han Chen Jeroen R Huyghe Martijn van de Bunt Richard D Pearson Ashish Kumar Martina Müller-Nurasyid Niels Grarup Heather M Stringham Eric R Gamazon Jaehoon Lee Yuhui Chen Robert A Scott Jennifer E Below Peng Chen Jinyan Huang Min Jin Go Michael L Stitzel Dorota Pasko Stephen C J Parker Tibor V Varga Todd Green Nicola L Beer Aaron G Day-Williams Teresa Ferreira Tasha Fingerlin Momoko Horikoshi Cheng Hu Iksoo Huh Mohammad Kamran Ikram Bong-Jo Kim Yongkang Kim Young Jin Kim Min-Seok Kwon Juyoung Lee Selyeong Lee Keng-Han Lin Taylor J Maxwell Yoshihiko Nagai Xu Wang Ryan P Welch Joon Yoon Weihua Zhang Nir Barzilai Benjamin F Voight Bok-Ghee Han Christopher P Jenkinson Teemu Kuulasmaa Johanna Kuusisto Alisa Manning Maggie C Y Ng Nicholette D Palmer Beverley Balkau Alena Stančáková Hanna E Abboud Heiner Boeing Vilmantas Giedraitis Dorairaj Prabhakaran Omri Gottesman James Scott Jason Carey Phoenix Kwan George Grant Joshua D Smith Benjamin M Neale Shaun Purcell Adam S Butterworth Joanna M M Howson Heung Man Lee Yingchang Lu Soo-Heon Kwak Wei Zhao John Danesh Vincent K L Lam Kyong Soo Park Danish Saleheen Wing Yee So Claudia H T Tam Uzma Afzal David Aguilar Rector Arya Tin Aung Edmund Chan Carmen Navarro Ching-Yu Cheng Domenico Palli Adolfo Correa Joanne E Curran Dennis Rybin Vidya S Farook Sharon P Fowler Barry I Freedman Michael Griswold Daniel Esten Hale Pamela J Hicks Chiea-Chuen Khor Satish Kumar Benjamin Lehne Dorothée Thuillier Wei Yen Lim Jianjun Liu Marie Loh Solomon K Musani Sobha Puppala William R Scott Loïc Yengo Sian-Tsung Tan Herman A Taylor Farook Thameem Gregory Wilson Tien Yin Wong Pål Rasmus Njølstad Jonathan C Levy Massimo Mangino Lori L Bonnycastle Thomas Schwarzmayr João Fadista Gabriela L Surdulescu Christian Herder Christopher J Groves Thomas Wieland Jette Bork-Jensen Ivan Brandslund Cramer Christensen Heikki A Koistinen Alex S F Doney Leena Kinnunen Tõnu Esko Andrew J Farmer Liisa Hakaste Dylan Hodgkiss Jasmina Kravic Valeri Lyssenko Mette Hollensted Marit E Jørgensen Torben Jørgensen Claes Ladenvall Johanne Marie Justesen Annemari Käräjämäki Jennifer Kriebel Wolfgang Rathmann Lars Lannfelt Torsten Lauritzen Narisu Narisu Allan Linneberg Olle Melander Lili Milani Matt Neville Marju Orho-Melander Lu Qi Qibin Qi Michael Roden Olov Rolandsson Amy Swift Anders H Rosengren Kathleen Stirrups Andrew R Wood Evelin Mihailov Christine Blancher Mauricio O Carneiro Jared Maguire Ryan Poplin Khalid Shakir Timothy Fennell Mark DePristo Martin Hrabé de Angelis Panos Deloukas Anette P Gjesing Goo Jun Peter Nilsson Jacquelyn Murphy Robert Onofrio Barbara Thorand Torben Hansen Christa Meisinger Frank B Hu Bo Isomaa Fredrik Karpe Liming Liang Annette Peters Cornelia Huth Stephen P O'Rahilly Colin N A Palmer Oluf Pedersen Rainer Rauramaa Jaakko Tuomilehto Veikko Salomaa Richard M Watanabe Ann-Christine Syvänen Richard N Bergman Dwaipayan Bharadwaj Erwin P Bottinger Yoon Shin Cho Giriraj R Chandak Juliana Cn Chan Kee Seng Chia Mark J Daly Shah B Ebrahim Claudia Langenberg Paul Elliott Kathleen A Jablonski Donna M Lehman Weiping Jia Ronald C W Ma Toni I Pollin Manjinder Sandhu Nikhil Tandon Philippe Froguel Inês Barroso Yik Ying Teo Eleftheria Zeggini Ruth J F Loos Kerrin S Small Janina S Ried Ralph A DeFronzo Harald Grallert Benjamin Glaser Andres Metspalu Nicholas J Wareham Mark Walker Eric Banks Christian Gieger Erik Ingelsson Hae Kyung Im Thomas Illig Paul W Franks Gemma Buck Joseph Trakalo David Buck Inga Prokopenko Reedik Mägi Lars Lind Yossi Farjoun Katharine R Owen Anna L Gloyn Konstantin Strauch Tiinamaija Tuomi Jaspal Singh Kooner Jong-Young Lee Taesung Park Peter Donnelly Andrew D Morris Andrew T Hattersley Donald W Bowden Francis S Collins Gil Atzmon John C Chambers Timothy D Spector Markku Laakso Tim M Strom Graeme I Bell John Blangero Ravindranath Duggirala E Shyong Tai Gilean McVean Craig L Hanis James G Wilson Mark Seielstad Timothy M Frayling James B Meigs Nancy J Cox Rob Sladek Eric S Lander Stacey Gabriel Karen L Mohlke Thomas Meitinger Leif Groop Goncalo Abecasis Laura J Scott Andrew P Morris Hyun Min Kang David Altshuler Noël P Burtt Jose C Florez Michael Boehnke Mark I McCarthy

Sci Data 2017 12 19;4:170179. Epub 2017 Dec 19.

Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1038/sdata.2017.179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735917PMC
December 2017

Corrigendum: High-throughput discovery of novel developmental phenotypes.

Nature 2017 11 8;551(7680):398. Epub 2017 Nov 8.

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http://dx.doi.org/10.1038/nature24643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849394PMC
November 2017

Fine-Scale Genetic Structure in Finland.

G3 (Bethesda) 2017 10 5;7(10):3459-3468. Epub 2017 Oct 5.

Institute for Molecular Medicine Finland, University of Helsinki, 00014, Finland

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http://dx.doi.org/10.1534/g3.117.300217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5633394PMC
October 2017

A Low-Frequency Inactivating Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.

Authors:
Alisa Manning Heather M Highland Jessica Gasser Xueling Sim Taru Tukiainen Pierre Fontanillas Niels Grarup Manuel A Rivas Anubha Mahajan Adam E Locke Pablo Cingolani Tune H Pers Ana Viñuela Andrew A Brown Ying Wu Jason Flannick Christian Fuchsberger Eric R Gamazon Kyle J Gaulton Hae Kyung Im Tanya M Teslovich Thomas W Blackwell Jette Bork-Jensen Noël P Burtt Yuhui Chen Todd Green Christopher Hartl Hyun Min Kang Ashish Kumar Claes Ladenvall Clement Ma Loukas Moutsianas Richard D Pearson John R B Perry N William Rayner Neil R Robertson Laura J Scott Martijn van de Bunt Johan G Eriksson Antti Jula Seppo Koskinen Terho Lehtimäki Aarno Palotie Olli T Raitakari Suzanne B R Jacobs Jennifer Wessel Audrey Y Chu Robert A Scott Mark O Goodarzi Christine Blancher Gemma Buck David Buck Peter S Chines Stacey Gabriel Anette P Gjesing Christopher J Groves Mette Hollensted Jeroen R Huyghe Anne U Jackson Goo Jun Johanne Marie Justesen Massimo Mangino Jacquelyn Murphy Matt Neville Robert Onofrio Kerrin S Small Heather M Stringham Joseph Trakalo Eric Banks Jason Carey Mauricio O Carneiro Mark DePristo Yossi Farjoun Timothy Fennell Jacqueline I Goldstein George Grant Martin Hrabé de Angelis Jared Maguire Benjamin M Neale Ryan Poplin Shaun Purcell Thomas Schwarzmayr Khalid Shakir Joshua D Smith Tim M Strom Thomas Wieland Jaana Lindstrom Ivan Brandslund Cramer Christensen Gabriela L Surdulescu Timo A Lakka Alex S F Doney Peter Nilsson Nicholas J Wareham Claudia Langenberg Tibor V Varga Paul W Franks Olov Rolandsson Anders H Rosengren Vidya S Farook Farook Thameem Sobha Puppala Satish Kumar Donna M Lehman Christopher P Jenkinson Joanne E Curran Daniel Esten Hale Sharon P Fowler Rector Arya Ralph A DeFronzo Hanna E Abboud Ann-Christine Syvänen Pamela J Hicks Nicholette D Palmer Maggie C Y Ng Donald W Bowden Barry I Freedman Tõnu Esko Reedik Mägi Lili Milani Evelin Mihailov Andres Metspalu Narisu Narisu Leena Kinnunen Lori L Bonnycastle Amy Swift Dorota Pasko Andrew R Wood João Fadista Toni I Pollin Nir Barzilai Gil Atzmon Benjamin Glaser Barbara Thorand Konstantin Strauch Annette Peters Michael Roden Martina Müller-Nurasyid Liming Liang Jennifer Kriebel Thomas Illig Harald Grallert Christian Gieger Christa Meisinger Lars Lannfelt Solomon K Musani Michael Griswold Herman A Taylor Gregory Wilson Adolfo Correa Heikki Oksa William R Scott Uzma Afzal Sian-Tsung Tan Marie Loh John C Chambers Jobanpreet Sehmi Jaspal Singh Kooner Benjamin Lehne Yoon Shin Cho Jong-Young Lee Bok-Ghee Han Annemari Käräjämäki Qibin Qi Lu Qi Jinyan Huang Frank B Hu Olle Melander Marju Orho-Melander Jennifer E Below David Aguilar Tien Yin Wong Jianjun Liu Chiea-Chuen Khor Kee Seng Chia Wei Yen Lim Ching-Yu Cheng Edmund Chan E Shyong Tai Tin Aung Allan Linneberg Bo Isomaa Thomas Meitinger Tiinamaija Tuomi Liisa Hakaste Jasmina Kravic Marit E Jørgensen Torsten Lauritzen Panos Deloukas Kathleen E Stirrups Katharine R Owen Andrew J Farmer Timothy M Frayling Stephen P O'Rahilly Mark Walker Jonathan C Levy Dylan Hodgkiss Andrew T Hattersley Teemu Kuulasmaa Alena Stančáková Inês Barroso Dwaipayan Bharadwaj Juliana Chan Giriraj R Chandak Mark J Daly Peter J Donnelly Shah B Ebrahim Paul Elliott Tasha Fingerlin Philippe Froguel Cheng Hu Weiping Jia Ronald C W Ma Gilean McVean Taesung Park Dorairaj Prabhakaran Manjinder Sandhu James Scott Rob Sladek Nikhil Tandon Yik Ying Teo Eleftheria Zeggini Richard M Watanabe Heikki A Koistinen Y Antero Kesaniemi Matti Uusitupa Timothy D Spector Veikko Salomaa Rainer Rauramaa Colin N A Palmer Inga Prokopenko Andrew D Morris Richard N Bergman Francis S Collins Lars Lind Erik Ingelsson Jaakko Tuomilehto Fredrik Karpe Leif Groop Torben Jørgensen Torben Hansen Oluf Pedersen Johanna Kuusisto Gonçalo Abecasis Graeme I Bell John Blangero Nancy J Cox Ravindranath Duggirala Mark Seielstad James G Wilson Josee Dupuis Samuli Ripatti Craig L Hanis Jose C Florez Karen L Mohlke James B Meigs Markku Laakso Andrew P Morris Michael Boehnke David Altshuler Mark I McCarthy Anna L Gloyn Cecilia M Lindgren

Diabetes 2017 07 24;66(7):2019-2032. Epub 2017 Mar 24.

Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.

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http://dx.doi.org/10.2337/db16-1329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482074PMC
July 2017

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations.

Am J Hum Genet 2017 Apr 30;100(4):635-649. Epub 2017 Mar 30.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Center of Statistical Genetics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384097PMC
April 2017

A framework for the detection of de novo mutations in family-based sequencing data.

Eur J Hum Genet 2017 02 23;25(2):227-233. Epub 2016 Nov 23.

Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2016.147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255947PMC
February 2017

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.

Authors:
Christian R Marshall Daniel P Howrigan Daniele Merico Bhooma Thiruvahindrapuram Wenting Wu Douglas S Greer Danny Antaki Aniket Shetty Peter A Holmans Dalila Pinto Madhusudan Gujral William M Brandler Dheeraj Malhotra Zhouzhi Wang Karin V Fuentes Fajarado Michelle S Maile Stephan Ripke Ingrid Agartz Margot Albus Madeline Alexander Farooq Amin Joshua Atkins Silviu A Bacanu Richard A Belliveau Sarah E Bergen Marcelo Bertalan Elizabeth Bevilacqua Tim B Bigdeli Donald W Black Richard Bruggeman Nancy G Buccola Randy L Buckner Brendan Bulik-Sullivan William Byerley Wiepke Cahn Guiqing Cai Murray J Cairns Dominique Campion Rita M Cantor Vaughan J Carr Noa Carrera Stanley V Catts Kimberley D Chambert Wei Cheng C Robert Cloninger David Cohen Paul Cormican Nick Craddock Benedicto Crespo-Facorro James J Crowley David Curtis Michael Davidson Kenneth L Davis Franziska Degenhardt Jurgen Del Favero Lynn E DeLisi Dimitris Dikeos Timothy Dinan Srdjan Djurovic Gary Donohoe Elodie Drapeau Jubao Duan Frank Dudbridge Peter Eichhammer Johan Eriksson Valentina Escott-Price Laurent Essioux Ayman H Fanous Kai-How Farh Martilias S Farrell Josef Frank Lude Franke Robert Freedman Nelson B Freimer Joseph I Friedman Andreas J Forstner Menachem Fromer Giulio Genovese Lyudmila Georgieva Elliot S Gershon Ina Giegling Paola Giusti-Rodríguez Stephanie Godard Jacqueline I Goldstein Jacob Gratten Lieuwe de Haan Marian L Hamshere Mark Hansen Thomas Hansen Vahram Haroutunian Annette M Hartmann Frans A Henskens Stefan Herms Joel N Hirschhorn Per Hoffmann Andrea Hofman Hailiang Huang Masashi Ikeda Inge Joa Anna K Kähler René S Kahn Luba Kalaydjieva Juha Karjalainen David Kavanagh Matthew C Keller Brian J Kelly James L Kennedy Yunjung Kim James A Knowles Bettina Konte Claudine Laurent Phil Lee S Hong Lee Sophie E Legge Bernard Lerer Deborah L Levy Kung-Yee Liang Jeffrey Lieberman Jouko Lönnqvist Carmel M Loughland Patrik K E Magnusson Brion S Maher Wolfgang Maier Jacques Mallet Manuel Mattheisen Morten Mattingsdal Robert W McCarley Colm McDonald Andrew M McIntosh Sandra Meier Carin J Meijer Ingrid Melle Raquelle I Mesholam-Gately Andres Metspalu Patricia T Michie Lili Milani Vihra Milanova Younes Mokrab Derek W Morris Bertram Müller-Myhsok Kieran C Murphy Robin M Murray Inez Myin-Germeys Igor Nenadic Deborah A Nertney Gerald Nestadt Kristin K Nicodemus Laura Nisenbaum Annelie Nordin Eadbhard O'Callaghan Colm O'Dushlaine Sang-Yun Oh Ann Olincy Line Olsen F Anthony O'Neill Jim Van Os Christos Pantelis George N Papadimitriou Elena Parkhomenko Michele T Pato Tiina Paunio Diana O Perkins Tune H Pers Olli Pietiläinen Jonathan Pimm Andrew J Pocklington John Powell Alkes Price Ann E Pulver Shaun M Purcell Digby Quested Henrik B Rasmussen Abraham Reichenberg Mark A Reimers Alexander L Richards Joshua L Roffman Panos Roussos Douglas M Ruderfer Veikko Salomaa Alan R Sanders Adam Savitz Ulrich Schall Thomas G Schulze Sibylle G Schwab Edward M Scolnick Rodney J Scott Larry J Seidman Jianxin Shi Jeremy M Silverman Jordan W Smoller Erik Söderman Chris C A Spencer Eli A Stahl Eric Strengman Jana Strohmaier T Scott Stroup Jaana Suvisaari Dragan M Svrakic Jin P Szatkiewicz Srinivas Thirumalai Paul A Tooney Juha Veijola Peter M Visscher John Waddington Dermot Walsh Bradley T Webb Mark Weiser Dieter B Wildenauer Nigel M Williams Stephanie Williams Stephanie H Witt Aaron R Wolen Brandon K Wormley Naomi R Wray Jing Qin Wu Clement C Zai Rolf Adolfsson Ole A Andreassen Douglas H R Blackwood Elvira Bramon Joseph D Buxbaum Sven Cichon David A Collier Aiden Corvin Mark J Daly Ariel Darvasi Enrico Domenici Tõnu Esko Pablo V Gejman Michael Gill Hugh Gurling Christina M Hultman Nakao Iwata Assen V Jablensky Erik G Jönsson Kenneth S Kendler George Kirov Jo Knight Douglas F Levinson Qingqin S Li Steven A McCarroll Andrew McQuillin Jennifer L Moran Bryan J Mowry Markus M Nöthen Roel A Ophoff Michael J Owen Aarno Palotie Carlos N Pato Tracey L Petryshen Danielle Posthuma Marcella Rietschel Brien P Riley Dan Rujescu Pamela Sklar David St Clair James T R Walters Thomas Werge Patrick F Sullivan Michael C O'Donovan Stephen W Scherer Benjamin M Neale Jonathan Sebat

Nat Genet 2017 01 21;49(1):27-35. Epub 2016 Nov 21.

Beyster Center for Psychiatric Genomics, University of California, San Diego, La Jolla, California, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5737772PMC
January 2017

TMEM258 Is a Component of the Oligosaccharyltransferase Complex Controlling ER Stress and Intestinal Inflammation.

Cell Rep 2016 12;17(11):2955-2965

Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA; Gastrointestinal Unit and Center for the Study of Inflammatory Bowel Disease, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA; Center for Computational and Integrative Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA; Center for Microbiome Informatics and Therapeutics, Massachusetts Institute of Technology, Cambridge, MA 02139, USA. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5661940PMC
December 2016

A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF.

Gastroenterology 2016 10 1;151(4):710-723.e2. Epub 2016 Jul 1.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York; Division of Gastroenterology, Icahn School of Medicine at Mount Sinai, New York, New York; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2016.06.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037012PMC
October 2016

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.

Nat Genet 2016 10 17;48(10):1107-11. Epub 2016 Aug 17.

Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://dx.doi.org/10.1038/ng.3638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042837PMC
October 2016

High-throughput discovery of novel developmental phenotypes.

Nature 2016 09 14;537(7621):508-514. Epub 2016 Sep 14.

The Jackson Laboratory, Bar Harbor, Maine 04609, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295821PMC
September 2016

Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.

Authors:
Padhraig Gormley Verneri Anttila Bendik S Winsvold Priit Palta Tonu Esko Tune H Pers Kai-How Farh Ester Cuenca-Leon Mikko Muona Nicholas A Furlotte Tobias Kurth Andres Ingason George McMahon Lannie Ligthart Gisela M Terwindt Mikko Kallela Tobias M Freilinger Caroline Ran Scott G Gordon Anine H Stam Stacy Steinberg Guntram Borck Markku Koiranen Lydia Quaye Hieab H H Adams Terho Lehtimäki Antti-Pekka Sarin Juho Wedenoja David A Hinds Julie E Buring Markus Schürks Paul M Ridker Maria Gudlaug Hrafnsdottir Hreinn Stefansson Susan M Ring Jouke-Jan Hottenga Brenda W J H Penninx Markus Färkkilä Ville Artto Mari Kaunisto Salli Vepsäläinen Rainer Malik Andrew C Heath Pamela A F Madden Nicholas G Martin Grant W Montgomery Mitja I Kurki Mart Kals Reedik Mägi Kalle Pärn Eija Hämäläinen Hailiang Huang Andrea E Byrnes Lude Franke Jie Huang Evie Stergiakouli Phil H Lee Cynthia Sandor Caleb Webber Zameel Cader Bertram Muller-Myhsok Stefan Schreiber Thomas Meitinger Johan G Eriksson Veikko Salomaa Kauko Heikkilä Elizabeth Loehrer Andre G Uitterlinden Albert Hofman Cornelia M van Duijn Lynn Cherkas Linda M Pedersen Audun Stubhaug Christopher S Nielsen Minna Männikkö Evelin Mihailov Lili Milani Hartmut Göbel Ann-Louise Esserlind Anne Francke Christensen Thomas Folkmann Hansen Thomas Werge Jaakko Kaprio Arpo J Aromaa Olli Raitakari M Arfan Ikram Tim Spector Marjo-Riitta Järvelin Andres Metspalu Christian Kubisch David P Strachan Michel D Ferrari Andrea C Belin Martin Dichgans Maija Wessman Arn M J M van den Maagdenberg John-Anker Zwart Dorret I Boomsma George Davey Smith Kari Stefansson Nicholas Eriksson Mark J Daly Benjamin M Neale Jes Olesen Daniel I Chasman Dale R Nyholt Aarno Palotie

Nat Genet 2016 09;48(10):1296

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September 2016

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.

Authors:
Padhraig Gormley Verneri Anttila Bendik S Winsvold Priit Palta Tonu Esko Tune H Pers Kai-How Farh Ester Cuenca-Leon Mikko Muona Nicholas A Furlotte Tobias Kurth Andres Ingason George McMahon Lannie Ligthart Gisela M Terwindt Mikko Kallela Tobias M Freilinger Caroline Ran Scott G Gordon Anine H Stam Stacy Steinberg Guntram Borck Markku Koiranen Lydia Quaye Hieab H H Adams Terho Lehtimäki Antti-Pekka Sarin Juho Wedenoja David A Hinds Julie E Buring Markus Schürks Paul M Ridker Maria Gudlaug Hrafnsdottir Hreinn Stefansson Susan M Ring Jouke-Jan Hottenga Brenda W J H Penninx Markus Färkkilä Ville Artto Mari Kaunisto Salli Vepsäläinen Rainer Malik Andrew C Heath Pamela A F Madden Nicholas G Martin Grant W Montgomery Mitja I Kurki Mart Kals Reedik Mägi Kalle Pärn Eija Hämäläinen Hailiang Huang Andrea E Byrnes Lude Franke Jie Huang Evie Stergiakouli Phil H Lee Cynthia Sandor Caleb Webber Zameel Cader Bertram Muller-Myhsok Stefan Schreiber Thomas Meitinger Johan G Eriksson Veikko Salomaa Kauko Heikkilä Elizabeth Loehrer Andre G Uitterlinden Albert Hofman Cornelia M van Duijn Lynn Cherkas Linda M Pedersen Audun Stubhaug Christopher S Nielsen Minna Männikkö Evelin Mihailov Lili Milani Hartmut Göbel Ann-Louise Esserlind Anne Francke Christensen Thomas Folkmann Hansen Thomas Werge Jaakko Kaprio Arpo J Aromaa Olli Raitakari M Arfan Ikram Tim Spector Marjo-Riitta Järvelin Andres Metspalu Christian Kubisch David P Strachan Michel D Ferrari Andrea C Belin Martin Dichgans Maija Wessman Arn M J M van den Maagdenberg John-Anker Zwart Dorret I Boomsma George Davey Smith Kari Stefansson Nicholas Eriksson Mark J Daly Benjamin M Neale Jes Olesen Daniel I Chasman Dale R Nyholt Aarno Palotie

Nat Genet 2016 08 20;48(8):856-66. Epub 2016 Jun 20.

Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

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August 2016

The genetic architecture of type 2 diabetes.

Authors:
Christian Fuchsberger Jason Flannick Tanya M Teslovich Anubha Mahajan Vineeta Agarwala Kyle J Gaulton Clement Ma Pierre Fontanillas Loukas Moutsianas Davis J McCarthy Manuel A Rivas John R B Perry Xueling Sim Thomas W Blackwell Neil R Robertson N William Rayner Pablo Cingolani Adam E Locke Juan Fernandez Tajes Heather M Highland Josee Dupuis Peter S Chines Cecilia M Lindgren Christopher Hartl Anne U Jackson Han Chen Jeroen R Huyghe Martijn van de Bunt Richard D Pearson Ashish Kumar Martina Müller-Nurasyid Niels Grarup Heather M Stringham Eric R Gamazon Jaehoon Lee Yuhui Chen Robert A Scott Jennifer E Below Peng Chen Jinyan Huang Min Jin Go Michael L Stitzel Dorota Pasko Stephen C J Parker Tibor V Varga Todd Green Nicola L Beer Aaron G Day-Williams Teresa Ferreira Tasha Fingerlin Momoko Horikoshi Cheng Hu Iksoo Huh Mohammad Kamran Ikram Bong-Jo Kim Yongkang Kim Young Jin Kim Min-Seok Kwon Juyoung Lee Selyeong Lee Keng-Han Lin Taylor J Maxwell Yoshihiko Nagai Xu Wang Ryan P Welch Joon Yoon Weihua Zhang Nir Barzilai Benjamin F Voight Bok-Ghee Han Christopher P Jenkinson Teemu Kuulasmaa Johanna Kuusisto Alisa Manning Maggie C Y Ng Nicholette D Palmer Beverley Balkau Alena Stančáková Hanna E Abboud Heiner Boeing Vilmantas Giedraitis Dorairaj Prabhakaran Omri Gottesman James Scott Jason Carey Phoenix Kwan George Grant Joshua D Smith Benjamin M Neale Shaun Purcell Adam S Butterworth Joanna M M Howson Heung Man Lee Yingchang Lu Soo-Heon Kwak Wei Zhao John Danesh Vincent K L Lam Kyong Soo Park Danish Saleheen Wing Yee So Claudia H T Tam Uzma Afzal David Aguilar Rector Arya Tin Aung Edmund Chan Carmen Navarro Ching-Yu Cheng Domenico Palli Adolfo Correa Joanne E Curran Denis Rybin Vidya S Farook Sharon P Fowler Barry I Freedman Michael Griswold Daniel Esten Hale Pamela J Hicks Chiea-Chuen Khor Satish Kumar Benjamin Lehne Dorothée Thuillier Wei Yen Lim Jianjun Liu Yvonne T van der Schouw Marie Loh Solomon K Musani Sobha Puppala William R Scott Loïc Yengo Sian-Tsung Tan Herman A Taylor Farook Thameem Gregory Wilson Tien Yin Wong Pål Rasmus Njølstad Jonathan C Levy Massimo Mangino Lori L Bonnycastle Thomas Schwarzmayr João Fadista Gabriela L Surdulescu Christian Herder Christopher J Groves Thomas Wieland Jette Bork-Jensen Ivan Brandslund Cramer Christensen Heikki A Koistinen Alex S F Doney Leena Kinnunen Tõnu Esko Andrew J Farmer Liisa Hakaste Dylan Hodgkiss Jasmina Kravic Valeriya Lyssenko Mette Hollensted Marit E Jørgensen Torben Jørgensen Claes Ladenvall Johanne Marie Justesen Annemari Käräjämäki Jennifer Kriebel Wolfgang Rathmann Lars Lannfelt Torsten Lauritzen Narisu Narisu Allan Linneberg Olle Melander Lili Milani Matt Neville Marju Orho-Melander Lu Qi Qibin Qi Michael Roden Olov Rolandsson Amy Swift Anders H Rosengren Kathleen Stirrups Andrew R Wood Evelin Mihailov Christine Blancher Mauricio O Carneiro Jared Maguire Ryan Poplin Khalid Shakir Timothy Fennell Mark DePristo Martin Hrabé de Angelis Panos Deloukas Anette P Gjesing Goo Jun Peter Nilsson Jacquelyn Murphy Robert Onofrio Barbara Thorand Torben Hansen Christa Meisinger Frank B Hu Bo Isomaa Fredrik Karpe Liming Liang Annette Peters Cornelia Huth Stephen P O'Rahilly Colin N A Palmer Oluf Pedersen Rainer Rauramaa Jaakko Tuomilehto Veikko Salomaa Richard M Watanabe Ann-Christine Syvänen Richard N Bergman Dwaipayan Bharadwaj Erwin P Bottinger Yoon Shin Cho Giriraj R Chandak Juliana C N Chan Kee Seng Chia Mark J Daly Shah B Ebrahim Claudia Langenberg Paul Elliott Kathleen A Jablonski Donna M Lehman Weiping Jia Ronald C W Ma Toni I Pollin Manjinder Sandhu Nikhil Tandon Philippe Froguel Inês Barroso Yik Ying Teo Eleftheria Zeggini Ruth J F Loos Kerrin S Small Janina S Ried Ralph A DeFronzo Harald Grallert Benjamin Glaser Andres Metspalu Nicholas J Wareham Mark Walker Eric Banks Christian Gieger Erik Ingelsson Hae Kyung Im Thomas Illig Paul W Franks Gemma Buck Joseph Trakalo David Buck Inga Prokopenko Reedik Mägi Lars Lind Yossi Farjoun Katharine R Owen Anna L Gloyn Konstantin Strauch Tiinamaija Tuomi Jaspal Singh Kooner Jong-Young Lee Taesung Park Peter Donnelly Andrew D Morris Andrew T Hattersley Donald W Bowden Francis S Collins Gil Atzmon John C Chambers Timothy D Spector Markku Laakso Tim M Strom Graeme I Bell John Blangero Ravindranath Duggirala E Shyong Tai Gilean McVean Craig L Hanis James G Wilson Mark Seielstad Timothy M Frayling James B Meigs Nancy J Cox Rob Sladek Eric S Lander Stacey Gabriel Noël P Burtt Karen L Mohlke Thomas Meitinger Leif Groop Goncalo Abecasis Jose C Florez Laura J Scott Andrew P Morris Hyun Min Kang Michael Boehnke David Altshuler Mark I McCarthy

Nature 2016 08 11;536(7614):41-47. Epub 2016 Jul 11.

Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.

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August 2016

Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study.

Circ Cardiovasc Genet 2016 Aug 15;9(4):368-74. Epub 2016 Jul 15.

From the Department of Biostatistics, Boston University School of Public Health, Boston, MA (G.M.P.); Center for Human Genetic Research (G.M.P., S.K.) and Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA (M.J.D., B.N.); Program in Medical and Population Genetics, Broad Institute, Cambridge, MA (G.M.P., S.G., D.A., M.J.D., B.N., S.K.); Department of Genetics, University of North Carolina, Chapel Hill, NC (L.A.L.); Genetic and Molecular Epidemiology Unit, Department of Clinical Sciences, Lund University, Malmö, Sweden (T.V.V.); Department of Genome Sciences, University of Washington, Seattle, WA (D.A.N., J.D.S.); Center of Biostatistics & Bioinformatics (M.E.G., H.M.), Department of Medicine (S.M.), Department of Pediatrics & Medicine (A.C.), and Department of Physiology & Biophysics (J.G.W.), University of Mississippi Medical Center, Jackson, MS; Human Genetics Center, University of Texas Health Science Center, Houston, TX (L.M.P., E.B.); Cardiovascular Research Institute, Morehouse School of Medicine, Atlanta, GA (R.C.Q.); Department of Medicine, Harvard Medical School, Boston, MA (D.A., S.K.); and Department of Epidemiology, University of Washington School of Public Health, Seattle, WA (A.P.R.).

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August 2016

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.

Nat Commun 2016 08 9;7:12342. Epub 2016 Aug 9.

Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, USA.

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August 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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August 2016

Genetic Coding Variant in GPR65 Alters Lysosomal pH and Links Lysosomal Dysfunction with Colitis Risk.

Immunity 2016 06 7;44(6):1392-405. Epub 2016 Jun 7.

The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Center for Computational and Integrative Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Gastrointestinal Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Center for the Study of Inflammatory Bowel Disease, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address:

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http://dx.doi.org/10.1016/j.immuni.2016.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936415PMC
June 2016

Network Analysis of Genome-Wide Selective Constraint Reveals a Gene Network Active in Early Fetal Brain Intolerant of Mutation.

PLoS Genet 2016 06 15;12(6):e1006121. Epub 2016 Jun 15.

Department of Neurology, Yale School of Medicine, New Haven Connecticut, United States of America.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4909280PMC
June 2016

A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies.

Am J Hum Genet 2016 05 14;98(5):857-868. Epub 2016 Apr 14.

Department of Statistics, Carnegie Mellon University, Pittsburgh, PA 15213, USA; Computational Biology Department, Carnegie Mellon University, Pittsburgh, PA 15213, USA. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864319PMC
May 2016

Quantifying prion disease penetrance using large population control cohorts.

Sci Transl Med 2016 Jan;8(322):322ra9

Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.

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January 2016