Jason Flannick

Jason Flannick

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Jason Flannick

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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.

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

The Contribution of Low-Frequency and Rare Coding Variation to Susceptibility to Type 2 Diabetes.

Authors:
Jason Flannick

Curr Diab Rep 2019 Apr 8;19(5):25. Epub 2019 Apr 8.

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

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http://dx.doi.org/10.1007/s11892-019-1142-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451938PMC
April 2019

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

Nat Commun 2018 06 13;9(1):2252. Epub 2018 Jun 13.

Regeneron Pharmaceuticals, Tarrytown, 10591, NY, USA.

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http://dx.doi.org/10.1038/s41467-018-04611-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5997992PMC
June 2018

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

Authors:
Anubha Mahajan Jennifer Wessel Sara M Willems Wei Zhao Neil R Robertson Audrey Y Chu Wei Gan Hidetoshi Kitajima Daniel Taliun N William Rayner Xiuqing Guo Yingchang Lu Man Li Richard A Jensen Yao Hu Shaofeng Huo Kurt K Lohman Weihua Zhang James P Cook Bram Peter Prins Jason Flannick Niels Grarup Vassily Vladimirovich Trubetskoy Jasmina Kravic Young Jin Kim Denis V Rybin Hanieh Yaghootkar Martina Müller-Nurasyid Karina Meidtner Ruifang Li-Gao Tibor V Varga Jonathan Marten Jin Li Albert Vernon Smith Ping An Symen Ligthart Stefan Gustafsson Giovanni Malerba Ayse Demirkan Juan Fernandez Tajes Valgerdur Steinthorsdottir Matthias Wuttke Cécile Lecoeur Michael Preuss Lawrence F Bielak Marielisa Graff Heather M Highland Anne E Justice Dajiang J Liu Eirini Marouli Gina Marie Peloso Helen R Warren Saima Afaq Shoaib Afzal Emma Ahlqvist Peter Almgren Najaf Amin Lia B Bang Alain G Bertoni Cristina Bombieri Jette Bork-Jensen Ivan Brandslund Jennifer A Brody Noël P Burtt Mickaël Canouil Yii-Der Ida Chen Yoon Shin Cho Cramer Christensen Sophie V Eastwood Kai-Uwe Eckardt Krista Fischer Giovanni Gambaro Vilmantas Giedraitis Megan L Grove Hugoline G de Haan Sophie Hackinger Yang Hai Sohee Han Anne Tybjærg-Hansen Marie-France Hivert Bo Isomaa Susanne Jäger Marit E Jørgensen Torben Jørgensen Annemari Käräjämäki Bong-Jo Kim Sung Soo Kim Heikki A Koistinen Peter Kovacs Jennifer Kriebel Florian Kronenberg Kristi Läll Leslie A Lange Jung-Jin Lee Benjamin Lehne Huaixing Li Keng-Hung Lin Allan Linneberg Ching-Ti Liu Jun Liu Marie Loh Reedik Mägi Vasiliki Mamakou Roberta McKean-Cowdin Girish Nadkarni Matt Neville Sune F Nielsen Ioanna Ntalla Patricia A Peyser Wolfgang Rathmann Kenneth Rice Stephen S Rich Line Rode Olov Rolandsson Sebastian Schönherr Elizabeth Selvin Kerrin S Small Alena Stančáková Praveen Surendran Kent D Taylor Tanya M Teslovich Barbara Thorand Gudmar Thorleifsson Adrienne Tin Anke Tönjes Anette Varbo Daniel R Witte Andrew R Wood Pranav Yajnik Jie Yao Loïc Yengo Robin Young Philippe Amouyel Heiner Boeing Eric Boerwinkle Erwin P Bottinger Rajiv Chowdhury Francis S Collins George Dedoussis Abbas Dehghan Panos Deloukas Marco M Ferrario Jean Ferrières Jose C Florez Philippe Frossard Vilmundur Gudnason Tamara B Harris Susan R Heckbert Joanna M M Howson Martin Ingelsson Sekar Kathiresan Frank Kee Johanna Kuusisto Claudia Langenberg Lenore J Launer Cecilia M Lindgren Satu Männistö Thomas Meitinger Olle Melander Karen L Mohlke Marie Moitry Andrew D Morris Alison D Murray Renée de Mutsert Marju Orho-Melander Katharine R Owen Markus Perola Annette Peters Michael A Province Asif Rasheed Paul M Ridker Fernando Rivadineira Frits R Rosendaal Anders H Rosengren Veikko Salomaa Wayne H-H Sheu Rob Sladek Blair H Smith Konstantin Strauch André G Uitterlinden Rohit Varma Cristen J Willer Matthias Blüher Adam S Butterworth John Campbell Chambers Daniel I Chasman John Danesh Cornelia van Duijn Josée Dupuis Oscar H Franco Paul W Franks Philippe Froguel Harald Grallert Leif Groop Bok-Ghee Han Torben Hansen Andrew T Hattersley Caroline Hayward Erik Ingelsson Sharon L R Kardia Fredrik Karpe Jaspal Singh Kooner Anna Köttgen Kari Kuulasmaa Markku Laakso Xu Lin Lars Lind Yongmei Liu Ruth J F Loos Jonathan Marchini Andres Metspalu Dennis Mook-Kanamori Børge G Nordestgaard Colin N A Palmer James S Pankow Oluf Pedersen Bruce M Psaty Rainer Rauramaa Naveed Sattar Matthias B Schulze Nicole Soranzo Timothy D Spector Kari Stefansson Michael Stumvoll Unnur Thorsteinsdottir Tiinamaija Tuomi Jaakko Tuomilehto Nicholas J Wareham James G Wilson Eleftheria Zeggini Robert A Scott Inês Barroso Timothy M Frayling Mark O Goodarzi James B Meigs Michael Boehnke Danish Saleheen Andrew P Morris Jerome I Rotter Mark I McCarthy

Nat Genet 2018 04 9;50(4):559-571. Epub 2018 Apr 9.

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/s41588-018-0084-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5898373PMC
April 2018

Translocon Declogger Ste24 Protects against IAPP Oligomer-Induced Proteotoxicity.

Cell 2018 03 8;173(1):62-73.e9. Epub 2018 Mar 8.

Whitehead Institute for Biomedical Research, Cambridge, MA 02142, USA; Massachusetts Institute of Technology, Cambridge, MA 02142, USA; Howard Hughes Medical Institute, Cambridge, MA 02139, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00928674183017
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http://dx.doi.org/10.1016/j.cell.2018.02.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945206PMC
March 2018

Cerebrovascular Disease Knowledge Portal: An Open-Access Data Resource to Accelerate Genomic Discoveries in Stroke.

Stroke 2018 02 15;49(2):470-475. Epub 2018 Jan 15.

From the Center for Genomic Medicine (K.C., C.G.-F., C.K., S.M., N.V., J.R.), Division of Neurocritical Care and Emergency Neurology, Department of Neurology (J.R.), and J. Philip Kistler Stroke Research Center (J.R.), Massachusetts General Hospital, Boston; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA (K.C., C.G.-F., C.K., S.M., J.F., N.B., M.v.G., B.A., M.C., N.V., J.R., G.J.F.); Division of Neurocritical Care and Emergency Neurology, Department of Neurology, Yale University School of Medicine, New Haven, CT (L.M., G.J.F.); Institute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig-Maximilian University, Munich, Germany (R.M.); Institute for Precision Cardiovascular Medicine, American Heart Association National Center, Dallas, TX (J.L.H.); Department of Medicine, Lillehei Heart Institute, University of Minnesota, Minneapolis (J.L.H.); and McMaster University, Hamilton, Ontario, Canada (M.C.).

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http://dx.doi.org/10.1161/STROKEAHA.117.018922DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780219PMC
February 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

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

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

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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.

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

Type 2 diabetes: genetic data sharing to advance complex disease research.

Nat Rev Genet 2016 09 11;17(9):535-49. Epub 2016 Jul 11.

Programs in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, Massachusetts 02142, USA.

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http://www.nature.com/articles/nrg.2016.56
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http://dx.doi.org/10.1038/nrg.2016.56DOI Listing
September 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

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

Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes.

Nat Rev Endocrinol 2016 07 15;12(7):394-406. Epub 2016 Apr 15.

K.G. Jebsen Center for Diabetes Research, The Department of Clinical Science, University of Bergen, Jonas Lies veg 87, N-5020 Bergen, Norway.

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July 2016

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.

Authors:
Kyle J Gaulton Teresa Ferreira Yeji Lee Anne Raimondo Reedik Mägi Michael E Reschen Anubha Mahajan Adam Locke N William Rayner Neil Robertson Robert A Scott Inga Prokopenko Laura J Scott Todd Green Thomas Sparso Dorothee Thuillier Loic Yengo Harald Grallert Simone Wahl Mattias Frånberg Rona J Strawbridge Hans Kestler Himanshu Chheda Lewin Eisele Stefan Gustafsson Valgerdur Steinthorsdottir Gudmar Thorleifsson Lu Qi Lennart C Karssen Elisabeth M van Leeuwen Sara M Willems Man Li Han Chen Christian Fuchsberger Phoenix Kwan Clement Ma Michael Linderman Yingchang Lu Soren K Thomsen Jana K Rundle Nicola L Beer Martijn van de Bunt Anil Chalisey Hyun Min Kang Benjamin F Voight Gonçalo R Abecasis Peter Almgren Damiano Baldassarre Beverley Balkau Rafn Benediktsson Matthias Blüher Heiner Boeing Lori L Bonnycastle Erwin P Bottinger Noël P Burtt Jason Carey Guillaume Charpentier Peter S Chines Marilyn C Cornelis David J Couper Andrew T Crenshaw Rob M van Dam Alex S F Doney Mozhgan Dorkhan Sarah Edkins Johan G Eriksson Tonu Esko Elodie Eury João Fadista Jason Flannick Pierre Fontanillas Caroline Fox Paul W Franks Karl Gertow Christian Gieger Bruna Gigante Omri Gottesman George B Grant Niels Grarup Christopher J Groves Maija Hassinen Christian T Have Christian Herder Oddgeir L Holmen Astradur B Hreidarsson Steve E Humphries David J Hunter Anne U Jackson Anna Jonsson Marit E Jørgensen Torben Jørgensen Wen-Hong L Kao Nicola D Kerrison Leena Kinnunen Norman Klopp Augustine Kong Peter Kovacs Peter Kraft Jasmina Kravic Cordelia Langford Karin Leander Liming Liang Peter Lichtner Cecilia M Lindgren Eero Lindholm Allan Linneberg Ching-Ti Liu Stéphane Lobbens Jian'an Luan Valeriya Lyssenko Satu Männistö Olga McLeod Julia Meyer Evelin Mihailov Ghazala Mirza Thomas W Mühleisen Martina Müller-Nurasyid Carmen Navarro Markus M Nöthen Nikolay N Oskolkov Katharine R Owen Domenico Palli Sonali Pechlivanis Leena Peltonen John R B Perry Carl G P Platou Michael Roden Douglas Ruderfer Denis Rybin Yvonne T van der Schouw Bengt Sennblad Gunnar Sigurðsson Alena Stančáková Gerald Steinbach Petter Storm Konstantin Strauch Heather M Stringham Qi Sun Barbara Thorand Emmi Tikkanen Anke Tonjes Joseph Trakalo Elena Tremoli Tiinamaija Tuomi Roman Wennauer Steven Wiltshire Andrew R Wood Eleftheria Zeggini Ian Dunham Ewan Birney Lorenzo Pasquali Jorge Ferrer Ruth J F Loos Josée Dupuis Jose C Florez Eric Boerwinkle James S Pankow Cornelia van Duijn Eric Sijbrands James B Meigs Frank B Hu Unnur Thorsteinsdottir Kari Stefansson Timo A Lakka Rainer Rauramaa Michael Stumvoll Nancy L Pedersen Lars Lind Sirkka M Keinanen-Kiukaanniemi Eeva Korpi-Hyövälti Timo E Saaristo Juha Saltevo Johanna Kuusisto Markku Laakso Andres Metspalu Raimund Erbel Karl-Heinz Jöcke Susanne Moebus Samuli Ripatti Veikko Salomaa Erik Ingelsson Bernhard O Boehm Richard N Bergman Francis S Collins Karen L Mohlke Heikki Koistinen Jaakko Tuomilehto Kristian Hveem Inger Njølstad Panagiotis Deloukas Peter J Donnelly Timothy M Frayling Andrew T Hattersley Ulf de Faire Anders Hamsten Thomas Illig Annette Peters Stephane Cauchi Rob Sladek Philippe Froguel Torben Hansen Oluf Pedersen Andrew D Morris Collin N A Palmer Sekar Kathiresan Olle Melander Peter M Nilsson Leif C Groop Inês Barroso Claudia Langenberg Nicholas J Wareham Christopher A O'Callaghan Anna L Gloyn David Altshuler Michael Boehnke Tanya M Teslovich Mark I McCarthy Andrew P Morris

Nat Genet 2015 Dec 9;47(12):1415-25. Epub 2015 Nov 9.

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

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December 2015

The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease.

PLoS Genet 2015 Apr 23;11(4):e1005165. Epub 2015 Apr 23.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom; Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, United Kingdom.

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April 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.

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January 2015

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

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

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225638PMC
November 2014

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

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

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

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September 2014

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

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

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

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July 2014

Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland.

Am J Hum Genet 2014 May 24;94(5):710-20. Epub 2014 Apr 24.

Division of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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May 2014

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.

Nat Genet 2014 Apr 2;46(4):357-63. Epub 2014 Mar 2.

1] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [2] Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts, USA. [3] Diabetes Unit, Massachusetts General Hospital, Boston, Massachusetts, USA. [4] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA. [5] Cardiovascular Research Center, Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts, USA. [6] Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA. [7] Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.

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April 2014

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

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

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

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February 2014

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

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

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

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

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February 2014

Evaluating empirical bounds on complex disease genetic architecture.

Nat Genet 2013 Dec 20;45(12):1418-27. Epub 2013 Oct 20.

1] Harvard-MIT Division of Health Sciences and Technology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA. [2] Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. [3] Program in Biophysics, Graduate School of Arts and Sciences, Harvard University, Cambridge, Massachusetts, USA. [4].

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December 2013

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.

Nat Genet 2013 Nov 6;45(11):1380-5. Epub 2013 Oct 6.

1] Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (MIT), Cambridge, Massachusetts, USA. [2] Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts, USA. [3] Diabetes Unit, Massachusetts General Hospital, Boston, Massachusetts, USA. [4].

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November 2013

Efficiency and power as a function of sequence coverage, SNP array density, and imputation.

PLoS Comput Biol 2012 12;8(7):e1002604. Epub 2012 Jul 12.

Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America.

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January 2013

Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.

BMC Med Genet 2011 Dec 28;12:172. Epub 2011 Dec 28.

Department of Pediatrics, Division of Genetics, University of California, San Francisco, 533 Parnassus St, Room U585P, San Francisco, CA 94143-0748 USA.

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December 2011

Automatic parameter learning for multiple local network alignment.

J Comput Biol 2009 Aug;16(8):1001-22

Department of Computer Science, Stanford University , Stanford, CA 94305, USA.

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August 2009

Genetic and computational identification of a conserved bacterial metabolic module.

PLoS Genet 2008 Dec 19;4(12):e1000310. Epub 2008 Dec 19.

Department of Biochemistry and Molecular Biology, University of Chicago, Chicago, IL, USA.

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December 2008

Current progress in network research: toward reference networks for key model organisms.

Brief Bioinform 2007 Sep 29;8(5):318-32. Epub 2007 Aug 29.

318 Campus Drive, Clark Center S251, Stanford, CA 94305, USA.

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September 2007

Graemlin: general and robust alignment of multiple large interaction networks.

Genome Res 2006 Sep 9;16(9):1169-81. Epub 2006 Aug 9.

Department of Computer Science, Stanford University, Stanford, California 94305, USA.

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September 2006

Using multiple alignments to improve seeded local alignment algorithms.

Nucleic Acids Res 2005 12;33(14):4563-77. Epub 2005 Aug 12.

Department of Computer Science, Stanford University, Stanford, CA 94304, USA.

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August 2005