Stacey Gabriel

Stacey Gabriel

UNVERIFIED PROFILE

Are you Stacey Gabriel?   Register this Author

Register author
Stacey Gabriel

Stacey Gabriel

Publications by authors named "Stacey Gabriel"

Are you Stacey Gabriel?   Register this Author

100Publications

6589Reads

40Profile Views

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.

Authors:
Jason Flannick Josep M Mercader Christian Fuchsberger Miriam S Udler Anubha Mahajan Jennifer Wessel Tanya M Teslovich Lizz Caulkins Ryan Koesterer Francisco Barajas-Olmos Thomas W Blackwell Eric Boerwinkle Jennifer A Brody Federico Centeno-Cruz Ling Chen Siying Chen Cecilia Contreras-Cubas Emilio Córdova Adolfo Correa Maria Cortes Ralph A DeFronzo Lawrence Dolan Kimberly L Drews Amanda Elliott James S Floyd Stacey Gabriel Maria Eugenia Garay-Sevilla Humberto García-Ortiz Myron Gross Sohee Han Nancy L Heard-Costa Anne U Jackson Marit E Jørgensen Hyun Min Kang Megan Kelsey Bong-Jo Kim Heikki A Koistinen Johanna Kuusisto Joseph B Leader Allan Linneberg Ching-Ti Liu Jianjun Liu Valeriya Lyssenko Alisa K Manning Anthony Marcketta Juan Manuel Malacara-Hernandez Angélica Martínez-Hernández Karen Matsuo Elizabeth Mayer-Davis Elvia Mendoza-Caamal Karen L Mohlke Alanna C Morrison Anne Ndungu Maggie C Y Ng Colm O'Dushlaine Anthony J Payne Catherine Pihoker Wendy S Post Michael Preuss Bruce M Psaty Ramachandran S Vasan N William Rayner Alexander P Reiner Cristina Revilla-Monsalve Neil R Robertson Nicola Santoro Claudia Schurmann Wing Yee So Xavier Soberón Heather M Stringham Tim M Strom Claudia H T Tam Farook Thameem Brian Tomlinson Jason M Torres Russell P Tracy Rob M van Dam Marijana Vujkovic Shuai Wang Ryan P Welch Daniel R Witte Tien-Yin Wong Gil Atzmon Nir Barzilai John Blangero Lori L Bonnycastle Donald W Bowden John C Chambers Edmund Chan Ching-Yu Cheng Yoon Shin Cho Francis S Collins Paul S de Vries Ravindranath Duggirala Benjamin Glaser Clicerio Gonzalez Ma Elena Gonzalez Leif Groop Jaspal Singh Kooner Soo Heon Kwak Markku Laakso Donna M Lehman Peter Nilsson Timothy D Spector E Shyong Tai Tiinamaija Tuomi Jaakko Tuomilehto James G Wilson Carlos A Aguilar-Salinas Erwin Bottinger Brian Burke David J Carey Juliana C N Chan Josée Dupuis Philippe Frossard Susan R Heckbert Mi Yeong Hwang Young Jin Kim H Lester Kirchner Jong-Young Lee Juyoung Lee Ruth J F Loos Ronald C W Ma Andrew D Morris Christopher J O'Donnell Colin N A Palmer James Pankow Kyong Soo Park Asif Rasheed Danish Saleheen Xueling Sim Kerrin S Small Yik Ying Teo Christopher Haiman Craig L Hanis Brian E Henderson Lorena Orozco Teresa Tusié-Luna Frederick E Dewey Aris Baras Christian Gieger Thomas Meitinger Konstantin Strauch Leslie Lange Niels Grarup Torben Hansen Oluf Pedersen Philip Zeitler Dana Dabelea Goncalo Abecasis Graeme I Bell Nancy J Cox Mark Seielstad Rob Sladek James B Meigs Steve S Rich Jerome I Rotter David Altshuler Noël P Burtt Laura J Scott Andrew P Morris Jose C Florez Mark I McCarthy Michael Boehnke

Nature 2019 06 22;570(7759):71-76. Epub 2019 May 22.

Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41586-019-1231-2
Publisher Site
http://dx.doi.org/10.1038/s41586-019-1231-2DOI Listing
June 2019

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

View Article

Download full-text PDF

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

Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease.

N Engl J Med 2019 Apr;380(15):1421-1432

From the Center for Complex Disease Genomics, Johns Hopkins University School of Medicine, Baltimore (J.M.T., A.Y.L., T.N.T., M.X.S., S.C., A.K., K.-D.H.N., C.B., A.C.); the Department of Genome Sciences, University of Washington School of Medicine (T.N.T., N.K., A.K., B.P.C., E.E.E.), and the Howard Hughes Medical Institute, University of Washington (E.E.E.) - both in Seattle; and Broad Institute of Harvard and MIT, Cambridge, MA (K.-D.H.N., N.G., S.G.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1706594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6596298PMC
April 2019

Triggered Palliative Care for Late-Stage Dementia: A Pilot Randomized Trial.

J Pain Symptom Manage 2019 01 18;57(1):10-19. Epub 2018 Oct 18.

Hebrew SeniorLife Institute for Aging Research and Department of Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S08853924183100
Publisher Site
http://dx.doi.org/10.1016/j.jpainsymman.2018.10.494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310628PMC
January 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.

View Article

Download full-text PDF

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

A Novel Screening Method to Identify Late-Stage Dementia Patients for Palliative Care Research and Practice.

J Pain Symptom Manage 2018 04 27;55(4):1152-1158.e1. Epub 2017 Dec 27.

Cecil G. Sheps Center for Health Services Research, University of North Carolina, Chapel Hill, North Carolina, USA; Division of Geriatric Medicine & Palliative Care Program, University of North Carolina, Chapel Hill, North Carolina, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpainsymman.2017.12.480DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6036617PMC
April 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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

A Loss-of-Function Splice Acceptor Variant in Is Protective for Type 2 Diabetes.

Diabetes 2017 11 24;66(11):2903-2914. Epub 2017 Aug 24.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2337/db17-0187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5652606PMC
November 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.

View Article

Download full-text PDF

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

Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease.

N Engl J Med 2017 07 21;377(2):111-121. Epub 2017 Jun 21.

From the Department of Medicine, Division of Hematology, Brigham and Women's Hospital (S.J., A.J.S., M.M.) and Harvard Medical School (B.L.E.), the Department of Medicine, Division of Cardiovascular Medicine, Brigham and Women's Hospital (E.S.) and Harvard Medical School (G.K.S., P.L.), the Department of Pathology (S.J.) and the Center for Genomic Medicine (P.N., S.K.), Massachusetts General Hospital, the Department of Medicine, Division of Cardiology, and Cardiovascular Research Center (P.N., S.K.), and the Department of Medicine (A.G.B.), Massachusetts General Hospital and Harvard Medical School, and the Departments of Medical Oncology (C.J.G.) and Biostatistics and Computational Biology (D.N.), Dana-Farber Cancer Institute, Boston, and the Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge (P.N., A.G.B., N.G., S.G., S.K.) - all in Massachusetts; the Department of Cardiology, University Hospital, Parma, Italy (D.A.); the Department of Medicine, Division of Cardiology, Mt. Sinai School of Medicine, New York (U.B., R.M., V.F.); Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid (V.F.); Medical Research Council-British Heart Foundation Cardiovascular Epidemiology Unit and National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics, Department of Public Health and Primary Care, and the British Heart Foundation, Cambridge Centre of Excellence, Department of Medicine, University of Cambridge, Cambridge (J.D.), and the Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton (J.D.) - both in the United Kingdom; the Center for Non-Communicable Diseases, Karachi, Pakistan (P.F., D.S.); the Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia (D.S.); and the Department of Clinical Sciences Malmö, Lund University, Lund, Sweden (O.M.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1701719DOI Listing
July 2017

ANGPTL3 Deficiency and Protection Against Coronary Artery Disease.

J Am Coll Cardiol 2017 Apr 3;69(16):2054-2063. Epub 2017 Apr 3.

Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts; Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacc.2017.02.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5404817PMC
April 2017

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:

View Article

Download full-text PDF

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

A reference panel of 64,976 haplotypes for genotype imputation.

Authors:
Shane McCarthy Sayantan Das Warren Kretzschmar Olivier Delaneau Andrew R Wood Alexander Teumer Hyun Min Kang Christian Fuchsberger Petr Danecek Kevin Sharp Yang Luo Carlo Sidore Alan Kwong Nicholas Timpson Seppo Koskinen Scott Vrieze Laura J Scott He Zhang Anubha Mahajan Jan Veldink Ulrike Peters Carlos Pato Cornelia M van Duijn Christopher E Gillies Ilaria Gandin Massimo Mezzavilla Arthur Gilly Massimiliano Cocca Michela Traglia Andrea Angius Jeffrey C Barrett Dorrett Boomsma Kari Branham Gerome Breen Chad M Brummett Fabio Busonero Harry Campbell Andrew Chan Sai Chen Emily Chew Francis S Collins Laura J Corbin George Davey Smith George Dedoussis Marcus Dorr Aliki-Eleni Farmaki Luigi Ferrucci Lukas Forer Ross M Fraser Stacey Gabriel Shawn Levy Leif Groop Tabitha Harrison Andrew Hattersley Oddgeir L Holmen Kristian Hveem Matthias Kretzler James C Lee Matt McGue Thomas Meitinger David Melzer Josine L Min Karen L Mohlke John B Vincent Matthias Nauck Deborah Nickerson Aarno Palotie Michele Pato Nicola Pirastu Melvin McInnis J Brent Richards Cinzia Sala Veikko Salomaa David Schlessinger Sebastian Schoenherr P Eline Slagboom Kerrin Small Timothy Spector Dwight Stambolian Marcus Tuke Jaakko Tuomilehto Leonard H Van den Berg Wouter Van Rheenen Uwe Volker Cisca Wijmenga Daniela Toniolo Eleftheria Zeggini Paolo Gasparini Matthew G Sampson James F Wilson Timothy Frayling Paul I W de Bakker Morris A Swertz Steven McCarroll Charles Kooperberg Annelot Dekker David Altshuler Cristen Willer William Iacono Samuli Ripatti Nicole Soranzo Klaudia Walter Anand Swaroop Francesco Cucca Carl A Anderson Richard M Myers Michael Boehnke Mark I McCarthy Richard Durbin

Nat Genet 2016 10 22;48(10):1279-83. Epub 2016 Aug 22.

Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388176PMC
October 2016

Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease.

Cell 2016 Oct 29;167(2):355-368.e10. Epub 2016 Sep 29.

Center for Complex Disease Genomics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cell.2016.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5113733PMC
October 2016

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://hmg.oxfordjournals.org/content/early/2015/07/21/hmg.d
Web Search
http://www.nature.com/doifinder/10.1038/nature18642
Publisher Site
http://dx.doi.org/10.1038/nature18642DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5034897PMC
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.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGENETICS.116.001410DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4988917PMC
August 2016

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

Am J Hum Genet 2016 Aug 21;99(2):501-10. Epub 2016 Jul 21.

Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA; Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA. Electronic address:

View Article

Download full-text PDF

Source
http://www.cell.com/ajhg/pdf/S0002-9297(16)30276-2.pdf
Web Search
http://www.cell.com/cms/attachment/2062243761/2063920621/mmc
Web Search
http://dx.doi.org/10.1016/j.ajhg.2016.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974110PMC
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.

View Article

Download full-text PDF

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

Phenotypic extremes in rare variant study designs.

Eur J Hum Genet 2016 06 9;24(6):924-30. Epub 2015 Sep 9.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2015.197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867440PMC
June 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:

View Article

Download full-text PDF

Source
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

Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas.

Authors:
Daniel J Brat Roel G W Verhaak Kenneth D Aldape W K Alfred Yung Sofie R Salama Lee A D Cooper Esther Rheinbay C Ryan Miller Mark Vitucci Olena Morozova A Gordon Robertson Houtan Noushmehr Peter W Laird Andrew D Cherniack Rehan Akbani Jason T Huse Giovanni Ciriello Laila M Poisson Jill S Barnholtz-Sloan Mitchel S Berger Cameron Brennan Rivka R Colen Howard Colman Adam E Flanders Caterina Giannini Mia Grifford Antonio Iavarone Rajan Jain Isaac Joseph Jaegil Kim Katayoon Kasaian Tom Mikkelsen Bradley A Murray Brian Patrick O'Neill Lior Pachter Donald W Parsons Carrie Sougnez Erik P Sulman Scott R Vandenberg Erwin G Van Meir Andreas von Deimling Hailei Zhang Daniel Crain Kevin Lau David Mallery Scott Morris Joseph Paulauskis Robert Penny Troy Shelton Mark Sherman Peggy Yena Aaron Black Jay Bowen Katie Dicostanzo Julie Gastier-Foster Kristen M Leraas Tara M Lichtenberg Christopher R Pierson Nilsa C Ramirez Cynthia Taylor Stephanie Weaver Lisa Wise Erik Zmuda Tanja Davidsen John A Demchok Greg Eley Martin L Ferguson Carolyn M Hutter Kenna R Mills Shaw Bradley A Ozenberger Margi Sheth Heidi J Sofia Roy Tarnuzzer Zhining Wang Liming Yang Jean Claude Zenklusen Brenda Ayala Julien Baboud Sudha Chudamani Mark A Jensen Jia Liu Todd Pihl Rohini Raman Yunhu Wan Ye Wu Adrian Ally J Todd Auman Miruna Balasundaram Saianand Balu Stephen B Baylin Rameen Beroukhim Moiz S Bootwalla Reanne Bowlby Christopher A Bristow Denise Brooks Yaron Butterfield Rebecca Carlsen Scott Carter Lynda Chin Andy Chu Eric Chuah Kristian Cibulskis Amanda Clarke Simon G Coetzee Noreen Dhalla Tim Fennell Sheila Fisher Stacey Gabriel Gad Getz Richard Gibbs Ranabir Guin Angela Hadjipanayis D Neil Hayes Toshinori Hinoue Katherine Hoadley Robert A Holt Alan P Hoyle Stuart R Jefferys Steven Jones Corbin D Jones Raju Kucherlapati Phillip H Lai Eric Lander Semin Lee Lee Lichtenstein Yussanne Ma Dennis T Maglinte Harshad S Mahadeshwar Marco A Marra Michael Mayo Shaowu Meng Matthew L Meyerson Piotr A Mieczkowski Richard A Moore Lisle E Mose Andrew J Mungall Angeliki Pantazi Michael Parfenov Peter J Park Joel S Parker Charles M Perou Alexei Protopopov Xiaojia Ren Jeffrey Roach Thaís S Sabedot Jacqueline Schein Steven E Schumacher Jonathan G Seidman Sahil Seth Hui Shen Janae V Simons Payal Sipahimalani Matthew G Soloway Xingzhi Song Huandong Sun Barbara Tabak Angela Tam Donghui Tan Jiabin Tang Nina Thiessen Timothy Triche David J Van Den Berg Umadevi Veluvolu Scot Waring Daniel J Weisenberger Matthew D Wilkerson Tina Wong Junyuan Wu Liu Xi Andrew W Xu Lixing Yang Travis I Zack Jianhua Zhang B Arman Aksoy Harindra Arachchi Chris Benz Brady Bernard Daniel Carlin Juok Cho Daniel DiCara Scott Frazer Gregory N Fuller JianJiong Gao Nils Gehlenborg David Haussler David I Heiman Lisa Iype Anders Jacobsen Zhenlin Ju Sol Katzman Hoon Kim Theo Knijnenburg Richard Bailey Kreisberg Michael S Lawrence William Lee Kalle Leinonen Pei Lin Shiyun Ling Wenbin Liu Yingchun Liu Yuexin Liu Yiling Lu Gordon Mills Sam Ng Michael S Noble Evan Paull Arvind Rao Sheila Reynolds Gordon Saksena Zack Sanborn Chris Sander Nikolaus Schultz Yasin Senbabaoglu Ronglai Shen Ilya Shmulevich Rileen Sinha Josh Stuart S Onur Sumer Yichao Sun Natalie Tasman Barry S Taylor Doug Voet Nils Weinhold John N Weinstein Da Yang Kosuke Yoshihara Siyuan Zheng Wei Zhang Lihua Zou Ty Abel Sara Sadeghi Mark L Cohen Jenny Eschbacher Eyas M Hattab Aditya Raghunathan Matthew J Schniederjan Dina Aziz Gene Barnett Wendi Barrett Darell D Bigner Lori Boice Cathy Brewer Chiara Calatozzolo Benito Campos Carlos Gilberto Carlotti Timothy A Chan Lucia Cuppini Erin Curley Stefania Cuzzubbo Karen Devine Francesco DiMeco Rebecca Duell J Bradley Elder Ashley Fehrenbach Gaetano Finocchiaro William Friedman Jordonna Fulop Johanna Gardner Beth Hermes Christel Herold-Mende Christine Jungk Ady Kendler Norman L Lehman Eric Lipp Ouida Liu Randy Mandt Mary McGraw Roger Mclendon Christopher McPherson Luciano Neder Phuong Nguyen Ardene Noss Raffaele Nunziata Quinn T Ostrom Cheryl Palmer Alessandro Perin Bianca Pollo Alexander Potapov Olga Potapova W Kimryn Rathmell Daniil Rotin Lisa Scarpace Cathy Schilero Kelly Senecal Kristen Shimmel Vsevolod Shurkhay Suzanne Sifri Rosy Singh Andrew E Sloan Kathy Smolenski Susan M Staugaitis Ruth Steele Leigh Thorne Daniela P C Tirapelli Andreas Unterberg Mahitha Vallurupalli Yun Wang Ronald Warnick Felicia Williams Yingli Wolinsky Sue Bell Mara Rosenberg Chip Stewart Franklin Huang Jonna L Grimsby Amie J Radenbaugh Jianan Zhang
June 2015

Whole-genome and multisector exome sequencing of primary and post-treatment glioblastoma reveals patterns of tumor evolution.

Genome Res 2015 Mar 3;25(3):316-27. Epub 2015 Feb 3.

Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA; Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/gr.180612.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352879PMC
March 2015

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.

Nature 2015 Feb 10;518(7537):102-6. Epub 2014 Dec 10.

1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [2] Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [3] Department of Medicine, Harvard Medical School, Boston, Massachusetts 02114, USA. [4] Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.

View Article

Download full-text PDF

Source
http://kooperberg.fhcrc.org/papers/2015do.pdf
Web Search
http://www.nature.com/doifinder/10.1038/nature13917
Publisher Site
http://dx.doi.org/10.1038/nature13917DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319990PMC
February 2015

Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

PLoS Genet 2015 Feb 3;11(2):e1004855. Epub 2015 Feb 3.

Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany; Molecular Medicine Partnership Unit (MMPU), University of Heidelberg/ EMBL, Heidelberg, Germany; Center of Human Genetic Research (CHGR), Massachusetts General Hospital, Boston, Massachusetts, United States of America; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1004855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4409815PMC
February 2015

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.

View Article

Download full-text PDF

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

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.

PLoS Genet 2015 Jan 27;11(1):e1004876. Epub 2015 Jan 27.

Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom; Oxford NIHR Biomedical Research Centre, Oxford University Hospitals Trust, Oxford, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1004876DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4307976PMC
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.

View Article

Download full-text PDF

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

Locally disordered methylation forms the basis of intratumor methylome variation in chronic lymphocytic leukemia.

Cancer Cell 2014 Dec;26(6):813-825

Cancer Vaccine Center, Dana-Farber Cancer Institute, Boston, MA 02115, USA; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02115, USA; Division of Hematology/Oncology, Children's Hospital, Boston, MA 02115, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ccell.2014.10.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302418PMC
December 2014

Inactivating mutations in NPC1L1 and protection from coronary heart disease.

N Engl J Med 2014 Nov 12;371(22):2072-82. Epub 2014 Nov 12.

Cardiovascular Division, Department of Medicine, Division of Statistical Genomics, Washington University School of Medicine, St. Louis, MO, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1405386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4335708PMC
November 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.

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

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

Systematic identification of personal tumor-specific neoantigens in chronic lymphocytic leukemia.

Blood 2014 Jul 2;124(3):453-62. Epub 2014 Jun 2.

Cancer Vaccine Center and Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA; Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1182/blood-2014-04-567933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102716PMC
July 2014

Loss-of-function mutations in APOC3, triglycerides, and coronary disease.

N Engl J Med 2014 Jul 18;371(1):22-31. Epub 2014 Jun 18.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1307095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4180269PMC
July 2014

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

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

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

View Article

Download full-text PDF

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