Hakon Hakonarson

Hakon Hakonarson

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Hakon Hakonarson

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100Publications

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The Long Noncoding RNA Landscape in Amygdala Tissues from Schizophrenia Patients.

EBioMedicine 2018 Aug 1. Epub 2018 Aug 1.

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; Division of Human Genetics, Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA. Electronic address:

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August 2018

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.

PLoS Genet 2018 Aug 13;14(8):e1007532. Epub 2018 Aug 13.

Division of Human Genetics, Department of Pediatrics, at The Children's Hospital of Philadelphia, and The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

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August 2018

Implications of an admixed Brazilian population in schizophrenia polygenic risk score.

Schizophr Res 2018 Jul 26. Epub 2018 Jul 26.

Departamento de Morfologia e Genética da Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil; Laboratório Interdisciplinar de Neurociências Clínicas (LiNC) do Departamento de Psiquiatria da UNIFESP, São Paulo, Brazil; Departamento de Psiquiatria da UNIFESP, São Paulo, Brazil. Electronic address:

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July 2018

Polygenic Risk Score for Alzheimer's Disease: Implications for Memory Performance and Hippocampal Volumes in Early Life.

Am J Psychiatry 2018 Jun 2;175(6):555-563. Epub 2018 Mar 2.

From the Department of Psychiatry and Legal Medicine, Universidade Federal do Rio Grande do Sul, Hospital de Clínicas de Porto Alegre, Section on Negative Affect and Social Processes, Porto Alegre, Brazil; the National Institute of Developmental Psychiatry, São Paulo, Brazil; the Department of Morphology and Genetics and the Department of Psychiatry, Universidade Federal de São Paulo, São Paulo, Brazil; the Emotion and Development Branch, NIMH, Bethesda, Md.; the Graduate Program in Pediatric and Child Health, Pontificial Catholic University of Rio Grande do Sul, Developmental Cognitive Neuroscience Lab, Porto Alegre, Brazil; the Department of Psychiatry, Universidade de São Paulo, São Paulo, Brazil; the Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia; the Rotman Research Institute, Baycrest, Toronto; the Departments of Psychology and Psychiatry, University of Toronto, Toronto; the Child Mind Institute, New York; and the Hospital for Sick Children, University of Toronto, Toronto.

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June 2018

Analysis of shared heritability in common disorders of the brain.

Authors:
Verneri Anttila Brendan Bulik-Sullivan Hilary K Finucane Raymond K Walters Jose Bras Laramie Duncan Valentina Escott-Price Guido J Falcone Padhraig Gormley Rainer Malik Nikolaos A Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H Lee Patrick Turley Benjamin Grenier-Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean-François Deleuze Emmanuelle Duron Badri N Vardarajan Christiane Reitz Alison M Goate Matthew J Huentelman M Ilyas Kamboh Eric B Larson Ekaterina Rogaeva Peter St George-Hyslop Hakon Hakonarson Walter A Kukull Lindsay A Farrer Lisa L Barnes Thomas G Beach F Yesim Demirci Elizabeth Head Christine M Hulette Gregory A Jicha John S K Kauwe Jeffrey A Kaye James B Leverenz Allan I Levey Andrew P Lieberman Vernon S Pankratz Wayne W Poon Joseph F Quinn Andrew J Saykin Lon S Schneider Amanda G Smith Joshua A Sonnen Robert A Stern Vivianna M Van Deerlin Linda J Van Eldik Denise Harold Giancarlo Russo David C Rubinsztein Anthony Bayer Magda Tsolaki Petra Proitsi Nick C Fox Harald Hampel Michael J Owen Simon Mead Peter Passmore Kevin Morgan Markus M Nöthen Martin Rossor Michelle K Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al-Chalabi Joshua C Bis Agustin Ruiz Mercè Boada Sudha Seshadri Alexa Beiser Kenneth Rice Sven J van der Lee Philip L De Jager Daniel H Geschwind Matthias Riemenschneider Steffi Riedel-Heller Jerome I Rotter Gerhard Ransmayr Bradley T Hyman Carlos Cruchaga Montserrat Alegret Bendik Winsvold Priit Palta Kai-How Farh Ester Cuenca-Leon Nicholas Furlotte Tobias Kurth Lannie Ligthart Gisela M Terwindt Tobias Freilinger Caroline Ran Scott D Gordon Guntram Borck Hieab H H Adams Terho Lehtimäki Juho Wedenoja Julie E Buring Markus Schürks Maria Hrafnsdottir Jouke-Jan Hottenga Brenda Penninx Ville Artto Mari Kaunisto Salli Vepsäläinen Nicholas G Martin Grant W Montgomery Mitja I Kurki Eija Hämäläinen Hailiang Huang Jie Huang Cynthia Sandor Caleb Webber Bertram Muller-Myhsok Stefan Schreiber Veikko Salomaa Elizabeth Loehrer Hartmut Göbel Alfons Macaya Patricia Pozo-Rosich Thomas Hansen Thomas Werge Jaakko Kaprio Andres Metspalu Christian Kubisch Michel D Ferrari Andrea C Belin Arn M J M van den Maagdenberg John-Anker Zwart Dorret Boomsma Nicholas Eriksson Jes Olesen Daniel I Chasman Dale R Nyholt Andreja Avbersek Larry Baum Samuel Berkovic Jonathan Bradfield Russell Buono Claudia B Catarino Patrick Cossette Peter De Jonghe Chantal Depondt Dennis Dlugos Thomas N Ferraro Jacqueline French Helle Hjalgrim Jennifer Jamnadas-Khoda Reetta Kälviäinen Wolfram S Kunz Holger Lerche Costin Leu Dick Lindhout Warren Lo Daniel Lowenstein Mark McCormack Rikke S Møller Anne Molloy Ping-Wing Ng Karen Oliver Michael Privitera Rodney Radtke Ann-Kathrin Ruppert Thomas Sander Steven Schachter Christoph Schankin Ingrid Scheffer Susanne Schoch Sanjay M Sisodiya Philip Smith Michael Sperling Pasquale Striano Rainer Surges G Neil Thomas Frank Visscher Christopher D Whelan Federico Zara Erin L Heinzen Anthony Marson Felicitas Becker Hans Stroink Fritz Zimprich Thomas Gasser Raphael Gibbs Peter Heutink Maria Martinez Huw R Morris Manu Sharma Mina Ryten Kin Y Mok Sara Pulit Steve Bevan Elizabeth Holliday John Attia Thomas Battey Giorgio Boncoraglio Vincent Thijs Wei-Min Chen Braxton Mitchell Peter Rothwell Pankaj Sharma Cathie Sudlow Astrid Vicente Hugh Markus Christina Kourkoulis Joana Pera Miriam Raffeld Scott Silliman Vesna Boraska Perica Laura M Thornton Laura M Huckins N William Rayner Cathryn M Lewis Monica Gratacos Filip Rybakowski Anna Keski-Rahkonen Anu Raevuori James I Hudson Ted Reichborn-Kjennerud Palmiero Monteleone Andreas Karwautz Katrin Mannik Jessica H Baker Julie K O'Toole Sara E Trace Oliver S P Davis Sietske G Helder Stefan Ehrlich Beate Herpertz-Dahlmann Unna N Danner Annemarie A van Elburg Maurizio Clementi Monica Forzan Elisa Docampo Jolanta Lissowska Joanna Hauser Alfonso Tortorella Mario Maj Fragiskos Gonidakis Konstantinos Tziouvas Hana Papezova Zeynep Yilmaz Gudrun Wagner Sarah Cohen-Woods Stefan Herms Antonio Julià Raquel Rabionet Danielle M Dick Samuli Ripatti Ole A Andreassen Thomas Espeseth Astri J Lundervold Vidar M Steen Dalila Pinto Stephen W Scherer Harald Aschauer Alexandra Schosser Lars Alfredsson Leonid Padyukov Katherine A Halmi James Mitchell Michael Strober Andrew W Bergen Walter Kaye Jin Peng Szatkiewicz Bru Cormand Josep Antoni Ramos-Quiroga Cristina Sánchez-Mora Marta Ribasés Miguel Casas Amaia Hervas Maria Jesús Arranz Jan Haavik Tetyana Zayats Stefan Johansson Nigel Williams Astrid Dempfle Aribert Rothenberger Jonna Kuntsi Robert D Oades Tobias Banaschewski Barbara Franke Jan K Buitelaar Alejandro Arias Vasquez Alysa E Doyle Andreas Reif Klaus-Peter Lesch Christine Freitag Olga Rivero Haukur Palmason Marcel Romanos Kate Langley Marcella Rietschel Stephanie H Witt Soeren Dalsgaard Anders D Børglum Irwin Waldman Beth Wilmot Nikolas Molly Claiton H D Bau Jennifer Crosbie Russell Schachar Sandra K Loo James J McGough Eugenio H Grevet Sarah E Medland Elise Robinson Lauren A Weiss Elena Bacchelli Anthony Bailey Vanessa Bal Agatino Battaglia Catalina Betancur Patrick Bolton Rita Cantor Patrícia Celestino-Soper Geraldine Dawson Silvia De Rubeis Frederico Duque Andrew Green Sabine M Klauck Marion Leboyer Pat Levitt Elena Maestrini Shrikant Mane Daniel Moreno- De-Luca Jeremy Parr Regina Regan Abraham Reichenberg Sven Sandin Jacob Vorstman Thomas Wassink Ellen Wijsman Edwin Cook Susan Santangelo Richard Delorme Bernadette Rogé Tiago Magalhaes Dan Arking Thomas G Schulze Robert C Thompson Jana Strohmaier Keith Matthews Ingrid Melle Derek Morris Douglas Blackwood Andrew McIntosh Sarah E Bergen Martin Schalling Stéphane Jamain Anna Maaser Sascha B Fischer Céline S Reinbold Janice M Fullerton José Guzman-Parra Fermin Mayoral Peter R Schofield Sven Cichon Thomas W Mühleisen Franziska Degenhardt Johannes Schumacher Michael Bauer Philip B Mitchell Elliot S Gershon John Rice James B Potash Peter P Zandi Nick Craddock I Nicol Ferrier Martin Alda Guy A Rouleau Gustavo Turecki Roel Ophoff Carlos Pato Adebayo Anjorin Eli Stahl Markus Leber Piotr M Czerski Cristiana Cruceanu Ian R Jones Danielle Posthuma Till F M Andlauer Andreas J Forstner Fabian Streit Bernhard T Baune Tracy Air Grant Sinnamon Naomi R Wray Donald J MacIntyre David Porteous Georg Homuth Margarita Rivera Jakob Grove Christel M Middeldorp Ian Hickie Michele Pergadia Divya Mehta Johannes H Smit Rick Jansen Eco de Geus Erin Dunn Qingqin S Li Matthias Nauck Robert A Schoevers Aartjan Tf Beekman James A Knowles Alexander Viktorin Paul Arnold Cathy L Barr Gabriel Bedoya-Berrio O Joseph Bienvenu Helena Brentani Christie Burton Beatriz Camarena Carolina Cappi Danielle Cath Maria Cavallini Daniele Cusi Sabrina Darrow Damiaan Denys Eske M Derks Andrea Dietrich Thomas Fernandez Martijn Figee Nelson Freimer Gloria Gerber Marco Grados Erica Greenberg Gregory L Hanna Andreas Hartmann Matthew E Hirschtritt Pieter J Hoekstra Alden Huang Chaim Huyser Cornelia Illmann Michael Jenike Samuel Kuperman Bennett Leventhal Christine Lochner Gholson J Lyon Fabio Macciardi Marcos Madruga-Garrido Irene A Malaty Athanasios Maras Lauren McGrath Eurípedes C Miguel Pablo Mir Gerald Nestadt Humberto Nicolini Michael S Okun Andrew Pakstis Peristera Paschou John Piacentini Christopher Pittenger Kerstin Plessen Vasily Ramensky Eliana M Ramos Victor Reus Margaret A Richter Mark A Riddle Mary M Robertson Veit Roessner Maria Rosário Jack F Samuels Paul Sandor Dan J Stein Fotis Tsetsos Filip Van Nieuwerburgh Sarah Weatherall Jens R Wendland Tomasz Wolanczyk Yulia Worbe Gwyneth Zai Fernando S Goes Nicole McLaughlin Paul S Nestadt Hans-Jorgen Grabe Christel Depienne Anuar Konkashbaev Nuria Lanzagorta Ana Valencia-Duarte Elvira Bramon Nancy Buccola Wiepke Cahn Murray Cairns Siow A Chong David Cohen Benedicto Crespo-Facorro James Crowley Michael Davidson Lynn DeLisi Timothy Dinan Gary Donohoe Elodie Drapeau Jubao Duan Lieuwe Haan David Hougaard Sena Karachanak-Yankova Andrey Khrunin Janis Klovins Vaidutis Kučinskas Jimmy Lee Chee Keong Svetlana Limborska Carmel Loughland Jouko Lönnqvist Brion Maher Manuel Mattheisen Colm McDonald Kieran C Murphy Igor Nenadic Jim van Os Christos Pantelis Michele Pato Tracey Petryshen Digby Quested Panos Roussos Alan R Sanders Ulrich Schall Sibylle G Schwab Kang Sim Hon-Cheong So Elisabeth Stögmann Mythily Subramaniam Draga Toncheva John Waddington James Walters Mark Weiser Wei Cheng Robert Cloninger David Curtis Pablo V Gejman Frans Henskens Morten Mattingsdal Sang-Yun Oh Rodney Scott Bradley Webb Gerome Breen Claire Churchhouse Cynthia M Bulik Mark Daly Martin Dichgans Stephen V Faraone Rita Guerreiro Peter Holmans Kenneth S Kendler Bobby Koeleman Carol A Mathews Alkes Price Jeremiah Scharf Pamela Sklar Julie Williams Nicholas W Wood Chris Cotsapas Aarno Palotie Jordan W Smoller Patrick Sullivan Jonathan Rosand Aiden Corvin Benjamin M Neale Jonathan M Schott Richard Anney Josephine Elia Maria Grigoroiu-Serbanescu Howard J Edenberg Robin Murray

Science 2018 06;360(6395)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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June 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Authors:
Valérie Turcot Yingchang Lu Heather M Highland Claudia Schurmann Anne E Justice Rebecca S Fine Jonathan P Bradfield Tõnu Esko Ayush Giri Mariaelisa Graff Xiuqing Guo Audrey E Hendricks Tugce Karaderi Adelheid Lempradl Adam E Locke Anubha Mahajan Eirini Marouli Suthesh Sivapalaratnam Kristin L Young Tamuno Alfred Mary F Feitosa Nicholas G D Masca Alisa K Manning Carolina Medina-Gomez Poorva Mudgal Maggie C Y Ng Alex P Reiner Sailaja Vedantam Sara M Willems Thomas W Winkler Gonçalo Abecasis Katja K Aben Dewan S Alam Sameer E Alharthi Matthew Allison Philippe Amouyel Folkert W Asselbergs Paul L Auer Beverley Balkau Lia E Bang Inês Barroso Lisa Bastarache Marianne Benn Sven Bergmann Lawrence F Bielak Matthias Blüher Michael Boehnke Heiner Boeing Eric Boerwinkle Carsten A Böger Jette Bork-Jensen Michiel L Bots Erwin P Bottinger Donald W Bowden Ivan Brandslund Gerome Breen Murray H Brilliant Linda Broer Marco Brumat Amber A Burt Adam S Butterworth Peter T Campbell Stefania Cappellani David J Carey Eulalia Catamo Mark J Caulfield John C Chambers Daniel I Chasman Yii-Der I Chen Rajiv Chowdhury Cramer Christensen Audrey Y Chu Massimiliano Cocca Francis S Collins James P Cook Janie Corley Jordi Corominas Galbany Amanda J Cox David S Crosslin Gabriel Cuellar-Partida Angela D'Eustacchio John Danesh Gail Davies Paul I W Bakker Mark C H Groot Renée Mutsert Ian J Deary George Dedoussis Ellen W Demerath Martin Heijer Anneke I Hollander Hester M Ruijter Joe G Dennis Josh C Denny Emanuele Angelantonio Fotios Drenos Mengmeng Du Marie-Pierre Dubé Alison M Dunning Douglas F Easton Todd L Edwards David Ellinghaus Patrick T Ellinor Paul Elliott Evangelos Evangelou Aliki-Eleni Farmaki I Sadaf Farooqi Jessica D Faul Sascha Fauser Shuang Feng Ele Ferrannini Jean Ferrieres Jose C Florez Ian Ford Myriam Fornage Oscar H Franco Andre Franke Paul W Franks Nele Friedrich Ruth Frikke-Schmidt Tessel E Galesloot Wei Gan Ilaria Gandin Paolo Gasparini Jane Gibson Vilmantas Giedraitis Anette P Gjesing Penny Gordon-Larsen Mathias Gorski Hans-Jörgen Grabe Struan F A Grant Niels Grarup Helen L Griffiths Megan L Grove Vilmundur Gudnason Stefan Gustafsson Jeff Haessler Hakon Hakonarson Anke R Hammerschlag Torben Hansen Kathleen Mullan Harris Tamara B Harris Andrew T Hattersley Christian T Have Caroline Hayward Liang He Nancy L Heard-Costa Andrew C Heath Iris M Heid Øyvind Helgeland Jussi Hernesniemi Alex W Hewitt Oddgeir L Holmen G Kees Hovingh Joanna M M Howson Yao Hu Paul L Huang Jennifer E Huffman M Arfan Ikram Erik Ingelsson Anne U Jackson Jan-Håkan Jansson Gail P Jarvik Gorm B Jensen Yucheng Jia Stefan Johansson Marit E Jørgensen Torben Jørgensen J Wouter Jukema Bratati Kahali René S Kahn Mika Kähönen Pia R Kamstrup Stavroula Kanoni Jaakko Kaprio Maria Karaleftheri Sharon L R Kardia Fredrik Karpe Sekar Kathiresan Frank Kee Lambertus A Kiemeney Eric Kim Hidetoshi Kitajima Pirjo Komulainen Jaspal S Kooner Charles Kooperberg Tellervo Korhonen Peter Kovacs Helena Kuivaniemi Zoltán Kutalik Kari Kuulasmaa Johanna Kuusisto Markku Laakso Timo A Lakka David Lamparter Ethan M Lange Leslie A Lange Claudia Langenberg Eric B Larson Nanette R Lee Terho Lehtimäki Cora E Lewis Huaixing Li Jin Li Ruifang Li-Gao Honghuang Lin Keng-Hung Lin Li-An Lin Xu Lin Lars Lind Jaana Lindström Allan Linneberg Ching-Ti Liu Dajiang J Liu Yongmei Liu Ken S Lo Artitaya Lophatananon Andrew J Lotery Anu Loukola Jian'an Luan Steven A Lubitz Leo-Pekka Lyytikäinen Satu Männistö Gaëlle Marenne Angela L Mazul Mark I McCarthy Roberta McKean-Cowdin Sarah E Medland Karina Meidtner Lili Milani Vanisha Mistry Paul Mitchell Karen L Mohlke Leena Moilanen Marie Moitry Grant W Montgomery Dennis O Mook-Kanamori Carmel Moore Trevor A Mori Andrew D Morris Andrew P Morris Martina Müller-Nurasyid Patricia B Munroe Mike A Nalls Narisu Narisu Christopher P Nelson Matt Neville Sune F Nielsen Kjell Nikus Pål R Njølstad Børge G Nordestgaard Dale R Nyholt Jeffrey R O'Connel Michelle L O'Donoghue Loes M Olde Loohuis Roel A Ophoff Katharine R Owen Chris J Packard Sandosh Padmanabhan Colin N A Palmer Nicholette D Palmer Gerard Pasterkamp Aniruddh P Patel Alison Pattie Oluf Pedersen Peggy L Peissig Gina M Peloso Craig E Pennell Markus Perola James A Perry John R B Perry Tune H Pers Thomas N Person Annette Peters Eva R B Petersen Patricia A Peyser Ailith Pirie Ozren Polasek Tinca J Polderman Hannu Puolijoki Olli T Raitakari Asif Rasheed Rainer Rauramaa Dermot F Reilly Frida Renström Myriam Rheinberger Paul M Ridker John D Rioux Manuel A Rivas David J Roberts Neil R Robertson Antonietta Robino Olov Rolandsson Igor Rudan Katherine S Ruth Danish Saleheen Veikko Salomaa Nilesh J Samani Yadav Sapkota Naveed Sattar Robert E Schoen Pamela J Schreiner Matthias B Schulze Robert A Scott Marcelo P Segura-Lepe Svati H Shah Wayne H-H Sheu Xueling Sim Andrew J Slater Kerrin S Small Albert V Smith Lorraine Southam Timothy D Spector Elizabeth K Speliotes John M Starr Kari Stefansson Valgerdur Steinthorsdottir Kathleen E Stirrups Konstantin Strauch Heather M Stringham Michael Stumvoll Liang Sun Praveen Surendran Amy J Swift Hayato Tada Katherine E Tansey Jean-Claude Tardif Kent D Taylor Alexander Teumer Deborah J Thompson Gudmar Thorleifsson Unnur Thorsteinsdottir Betina H Thuesen Anke Tönjes Gerard Tromp Stella Trompet Emmanouil Tsafantakis Jaakko Tuomilehto Anne Tybjaerg-Hansen Jonathan P Tyrer Rudolf Uher André G Uitterlinden Matti Uusitupa Sander W Laan Cornelia M Duijn Nienke Leeuwen Jessica van Setten Mauno Vanhala Anette Varbo Tibor V Varga Rohit Varma Digna R Velez Edwards Sita H Vermeulen Giovanni Veronesi Henrik Vestergaard Veronique Vitart Thomas F Vogt Uwe Völker Dragana Vuckovic Lynne E Wagenknecht Mark Walker Lars Wallentin Feijie Wang Carol A Wang Shuai Wang Yiqin Wang Erin B Ware Nicholas J Wareham Helen R Warren Dawn M Waterworth Jennifer Wessel Harvey D White Cristen J Willer James G Wilson Daniel R Witte Andrew R Wood Ying Wu Hanieh Yaghootkar Jie Yao Pang Yao Laura M Yerges-Armstrong Robin Young Eleftheria Zeggini Xiaowei Zhan Weihua Zhang Jing Hua Zhao Wei Zhao Wei Zhou Krina T Zondervan Jerome I Rotter John A Pospisilik Fernando Rivadeneira Ingrid B Borecki Panos Deloukas Timothy M Frayling Guillaume Lettre Kari E North Cecilia M Lindgren Joel N Hirschhorn Ruth J F Loos

Nat Genet 2018 May;50(5):765-766

Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

View Article
May 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Authors:
Valérie Turcot Yingchang Lu Heather M Highland Claudia Schurmann Anne E Justice Rebecca S Fine Jonathan P Bradfield Tõnu Esko Ayush Giri Mariaelisa Graff Xiuqing Guo Audrey E Hendricks Tugce Karaderi Adelheid Lempradl Adam E Locke Anubha Mahajan Eirini Marouli Suthesh Sivapalaratnam Kristin L Young Tamuno Alfred Mary F Feitosa Nicholas G D Masca Alisa K Manning Carolina Medina-Gomez Poorva Mudgal Maggie C Y Ng Alex P Reiner Sailaja Vedantam Sara M Willems Thomas W Winkler Gonçalo Abecasis Katja K Aben Dewan S Alam Sameer E Alharthi Matthew Allison Philippe Amouyel Folkert W Asselbergs Paul L Auer Beverley Balkau Lia E Bang Inês Barroso Lisa Bastarache Marianne Benn Sven Bergmann Lawrence F Bielak Matthias Blüher Michael Boehnke Heiner Boeing Eric Boerwinkle Carsten A Böger Jette Bork-Jensen Michiel L Bots Erwin P Bottinger Donald W Bowden Ivan Brandslund Gerome Breen Murray H Brilliant Linda Broer Marco Brumat Amber A Burt Adam S Butterworth Peter T Campbell Stefania Cappellani David J Carey Eulalia Catamo Mark J Caulfield John C Chambers Daniel I Chasman Yii-Der I Chen Rajiv Chowdhury Cramer Christensen Audrey Y Chu Massimiliano Cocca Francis S Collins James P Cook Janie Corley Jordi Corominas Galbany Amanda J Cox David S Crosslin Gabriel Cuellar-Partida Angela D'Eustacchio John Danesh Gail Davies Paul I W Bakker Mark C H Groot Renée Mutsert Ian J Deary George Dedoussis Ellen W Demerath Martin Heijer Anneke I Hollander Hester M Ruijter Joe G Dennis Josh C Denny Emanuele Di Angelantonio Fotios Drenos Mengmeng Du Marie-Pierre Dubé Alison M Dunning Douglas F Easton Todd L Edwards David Ellinghaus Patrick T Ellinor Paul Elliott Evangelos Evangelou Aliki-Eleni Farmaki I Sadaf Farooqi Jessica D Faul Sascha Fauser Shuang Feng Ele Ferrannini Jean Ferrieres Jose C Florez Ian Ford Myriam Fornage Oscar H Franco Andre Franke Paul W Franks Nele Friedrich Ruth Frikke-Schmidt Tessel E Galesloot Wei Gan Ilaria Gandin Paolo Gasparini Jane Gibson Vilmantas Giedraitis Anette P Gjesing Penny Gordon-Larsen Mathias Gorski Hans-Jörgen Grabe Struan F A Grant Niels Grarup Helen L Griffiths Megan L Grove Vilmundur Gudnason Stefan Gustafsson Jeff Haessler Hakon Hakonarson Anke R Hammerschlag Torben Hansen Kathleen Mullan Harris Tamara B Harris Andrew T Hattersley Christian T Have Caroline Hayward Liang He Nancy L Heard-Costa Andrew C Heath Iris M Heid Øyvind Helgeland Jussi Hernesniemi Alex W Hewitt Oddgeir L Holmen G Kees Hovingh Joanna M M Howson Yao Hu Paul L Huang Jennifer E Huffman M Arfan Ikram Erik Ingelsson Anne U Jackson Jan-Håkan Jansson Gail P Jarvik Gorm B Jensen Yucheng Jia Stefan Johansson Marit E Jørgensen Torben Jørgensen J Wouter Jukema Bratati Kahali René S Kahn Mika Kähönen Pia R Kamstrup Stavroula Kanoni Jaakko Kaprio Maria Karaleftheri Sharon L R Kardia Fredrik Karpe Sekar Kathiresan Frank Kee Lambertus A Kiemeney Eric Kim Hidetoshi Kitajima Pirjo Komulainen Jaspal S Kooner Charles Kooperberg Tellervo Korhonen Peter Kovacs Helena Kuivaniemi Zoltán Kutalik Kari Kuulasmaa Johanna Kuusisto Markku Laakso Timo A Lakka David Lamparter Ethan M Lange Leslie A Lange Claudia Langenberg Eric B Larson Nanette R Lee Terho Lehtimäki Cora E Lewis Huaixing Li Jin Li Ruifang Li-Gao Honghuang Lin Keng-Hung Lin Li-An Lin Xu Lin Lars Lind Jaana Lindström Allan Linneberg Ching-Ti Liu Dajiang J Liu Yongmei Liu Ken S Lo Artitaya Lophatananon Andrew J Lotery Anu Loukola Jian'an Luan Steven A Lubitz Leo-Pekka Lyytikäinen Satu Männistö Gaëlle Marenne Angela L Mazul Mark I McCarthy Roberta McKean-Cowdin Sarah E Medland Karina Meidtner Lili Milani Vanisha Mistry Paul Mitchell Karen L Mohlke Leena Moilanen Marie Moitry Grant W Montgomery Dennis O Mook-Kanamori Carmel Moore Trevor A Mori Andrew D Morris Andrew P Morris Martina Müller-Nurasyid Patricia B Munroe Mike A Nalls Narisu Narisu Christopher P Nelson Matt Neville Sune F Nielsen Kjell Nikus Pål R Njølstad Børge G Nordestgaard Dale R Nyholt Jeffrey R O'Connel Michelle L O'Donoghue Loes M Olde Loohuis Roel A Ophoff Katharine R Owen Chris J Packard Sandosh Padmanabhan Colin N A Palmer Nicholette D Palmer Gerard Pasterkamp Aniruddh P Patel Alison Pattie Oluf Pedersen Peggy L Peissig Gina M Peloso Craig E Pennell Markus Perola James A Perry John R B Perry Tune H Pers Thomas N Person Annette Peters Eva R B Petersen Patricia A Peyser Ailith Pirie Ozren Polasek Tinca J Polderman Hannu Puolijoki Olli T Raitakari Asif Rasheed Rainer Rauramaa Dermot F Reilly Frida Renström Myriam Rheinberger Paul M Ridker John D Rioux Manuel A Rivas David J Roberts Neil R Robertson Antonietta Robino Olov Rolandsson Igor Rudan Katherine S Ruth Danish Saleheen Veikko Salomaa Nilesh J Samani Yadav Sapkota Naveed Sattar Robert E Schoen Pamela J Schreiner Matthias B Schulze Robert A Scott Marcelo P Segura-Lepe Svati H Shah Wayne H-H Sheu Xueling Sim Andrew J Slater Kerrin S Small Albert V Smith Lorraine Southam Timothy D Spector Elizabeth K Speliotes John M Starr Kari Stefansson Valgerdur Steinthorsdottir Kathleen E Stirrups Konstantin Strauch Heather M Stringham Michael Stumvoll Liang Sun Praveen Surendran Amy J Swift Hayato Tada Katherine E Tansey Jean-Claude Tardif Kent D Taylor Alexander Teumer Deborah J Thompson Gudmar Thorleifsson Unnur Thorsteinsdottir Betina H Thuesen Anke Tönjes Gerard Tromp Stella Trompet Emmanouil Tsafantakis Jaakko Tuomilehto Anne Tybjaerg-Hansen Jonathan P Tyrer Rudolf Uher André G Uitterlinden Matti Uusitupa Sander W Laan Cornelia M Duijn Nienke Leeuwen Jessica van Setten Mauno Vanhala Anette Varbo Tibor V Varga Rohit Varma Digna R Velez Edwards Sita H Vermeulen Giovanni Veronesi Henrik Vestergaard Veronique Vitart Thomas F Vogt Uwe Völker Dragana Vuckovic Lynne E Wagenknecht Mark Walker Lars Wallentin Feijie Wang Carol A Wang Shuai Wang Yiqin Wang Erin B Ware Nicholas J Wareham Helen R Warren Dawn M Waterworth Jennifer Wessel Harvey D White Cristen J Willer James G Wilson Daniel R Witte Andrew R Wood Ying Wu Hanieh Yaghootkar Jie Yao Pang Yao Laura M Yerges-Armstrong Robin Young Eleftheria Zeggini Xiaowei Zhan Weihua Zhang Jing Hua Zhao Wei Zhao Wei Zhao Wei Zhou Krina T Zondervan Jerome I Rotter John A Pospisilik Fernando Rivadeneira Ingrid B Borecki Panos Deloukas Timothy M Frayling Guillaume Lettre Kari E North Cecilia M Lindgren Joel N Hirschhorn Ruth J F Loos

Nat Genet 2018 May;50(5):766-767

Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

View Article
May 2018

137 ancient human genomes from across the Eurasian steppes.

Nature 2018 May 9;557(7705):369-374. Epub 2018 May 9.

Center for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Copenhagen, Denmark.

View Article
May 2018

Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants.

Ann Transl Med 2018 Apr;6(7):126

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

View Article
April 2018

Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964).

J Pediatr 2018 Mar 18;194:248-252.e2. Epub 2017 Dec 18.

Section of Dermatology, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perlman School of Medicine, Philadelphia, PA. Electronic address:

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March 2018

Autosomal dominant mannose-binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants.

J Thorac Cardiovasc Surg 2018 Mar 7;155(3):1139-1147.e2. Epub 2017 Dec 7.

Division of Cardiothoracic Surgery, The Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa. Electronic address:

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March 2018

Genetic Reduction in Left Ventricular Protein Kinase C-α and Adverse Ventricular Remodeling in Human Subjects.

Circ Genom Precis Med 2018 Mar;11(3):e001901

From the Penn Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia (R.H., M.P.M., J.B., K.B.M., T.P.C.); Cardiovascular Research Center (N.R.T., V.A.P., P.T.E.) and Center for Human Genetic Research and Cardiovascular Research Center (C.N.-C.), Massachusetts General Hospital, Boston; Department of Statistics, University of Illinois at Urbana-Champaign (S.D.Z.); Heidelberg University Hospital, Germany (B.M., H.A.K.); Department of Genetic Epidemiology, Institute of Human Genetics, University of Münster, Germany (F.R., M.S.); INSERM UMRS1166-IACN, Hôpital Pitié-Salpêtrière, Paris, France (E.V., F.C.); Section of Computational Biomedicine, Department of Medicine, Boston University School of Medicine, MA (H.L.); Department of Epidemiology, University of Washington, Seattle (N.L.S.); Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, the Netherlands (J.F.F.); Boston University School of Medicine, MA (R.S.V.); Department of Cardiology, University of Groningen, University Medical Center Groningen, the Netherlands (P.v.d.H.); Medical and Population Genetics Program, Broad Institute, Cambridge, MA (C.N.-C.); Center for Applied Genomics, Children's Hospital of Philadelphia, PA (J.L., C.E.K., H.H.); Center for Bioinformatics and Computational Biology, University of Maryland, College Park (S.H.); Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, CA (E.A.A.); Department of Cardiovascular Medicine, Cleveland Clinic, OH (C.S.M., W.H.W.T.); and Howard Hughes Medical Institute and Cincinnati Children's Hospital Medical Center, OH (M.M., J.D.M.).

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March 2018

Bayesian analysis of genome-wide inflammatory bowel disease data sets reveals new risk loci.

Eur J Hum Genet 2018 Feb 4;26(2):265-274. Epub 2017 Dec 4.

Department of Pediatrics, Center for Applied Genomics, Devision of Human Genetics, The Children's Hospital of Philadelphia, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.

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February 2018

Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics.

Hum Mol Genet 2018 Feb;27(4):742-756

Institute of Biomedical and Clinical Science, University of Exeter Medical School, University of Exeter, Royal Devon and Exeter Hospital, Exeter EX2 5DW, UK.

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February 2018

Non-coding RNA dysregulation in the amygdala region of schizophrenia patients contributes to the pathogenesis of the disease.

Transl Psychiatry 2018 Feb 2;8(1):44. Epub 2018 Feb 2.

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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February 2018

Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.

Am J Med Genet A 2018 Jan 12;176(1):75-81. Epub 2017 Nov 12.

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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January 2018

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Authors:
Valérie Turcot Yingchang Lu Heather M Highland Claudia Schurmann Anne E Justice Rebecca S Fine Jonathan P Bradfield Tõnu Esko Ayush Giri Mariaelisa Graff Xiuqing Guo Audrey E Hendricks Tugce Karaderi Adelheid Lempradl Adam E Locke Anubha Mahajan Eirini Marouli Suthesh Sivapalaratnam Kristin L Young Tamuno Alfred Mary F Feitosa Nicholas G D Masca Alisa K Manning Carolina Medina-Gomez Poorva Mudgal Maggie C Y Ng Alex P Reiner Sailaja Vedantam Sara M Willems Thomas W Winkler Gonçalo Abecasis Katja K Aben Dewan S Alam Sameer E Alharthi Matthew Allison Philippe Amouyel Folkert W Asselbergs Paul L Auer Beverley Balkau Lia E Bang Inês Barroso Lisa Bastarache Marianne Benn Sven Bergmann Lawrence F Bielak Matthias Blüher Michael Boehnke Heiner Boeing Eric Boerwinkle Carsten A Böger Jette Bork-Jensen Michiel L Bots Erwin P Bottinger Donald W Bowden Ivan Brandslund Gerome Breen Murray H Brilliant Linda Broer Marco Brumat Amber A Burt Adam S Butterworth Peter T Campbell Stefania Cappellani David J Carey Eulalia Catamo Mark J Caulfield John C Chambers Daniel I Chasman Yii-Der I Chen Rajiv Chowdhury Cramer Christensen Audrey Y Chu Massimiliano Cocca Francis S Collins James P Cook Janie Corley Jordi Corominas Galbany Amanda J Cox David S Crosslin Gabriel Cuellar-Partida Angela D'Eustacchio John Danesh Gail Davies Paul I W Bakker Mark C H Groot Renée Mutsert Ian J Deary George Dedoussis Ellen W Demerath Martin Heijer Anneke I Hollander Hester M Ruijter Joe G Dennis Josh C Denny Emanuele Di Angelantonio Fotios Drenos Mengmeng Du Marie-Pierre Dubé Alison M Dunning Douglas F Easton Todd L Edwards David Ellinghaus Patrick T Ellinor Paul Elliott Evangelos Evangelou Aliki-Eleni Farmaki I Sadaf Farooqi Jessica D Faul Sascha Fauser Shuang Feng Ele Ferrannini Jean Ferrieres Jose C Florez Ian Ford Myriam Fornage Oscar H Franco Andre Franke Paul W Franks Nele Friedrich Ruth Frikke-Schmidt Tessel E Galesloot Wei Gan Ilaria Gandin Paolo Gasparini Jane Gibson Vilmantas Giedraitis Anette P Gjesing Penny Gordon-Larsen Mathias Gorski Hans-Jörgen Grabe Struan F A Grant Niels Grarup Helen L Griffiths Megan L Grove Vilmundur Gudnason Stefan Gustafsson Jeff Haessler Hakon Hakonarson Anke R Hammerschlag Torben Hansen Kathleen Mullan Harris Tamara B Harris Andrew T Hattersley Christian T Have Caroline Hayward Liang He Nancy L Heard-Costa Andrew C Heath Iris M Heid Øyvind Helgeland Jussi Hernesniemi Alex W Hewitt Oddgeir L Holmen G Kees Hovingh Joanna M M Howson Yao Hu Paul L Huang Jennifer E Huffman M Arfan Ikram Erik Ingelsson Anne U Jackson Jan-Håkan Jansson Gail P Jarvik Gorm B Jensen Yucheng Jia Stefan Johansson Marit E Jørgensen Torben Jørgensen J Wouter Jukema Bratati Kahali René S Kahn Mika Kähönen Pia R Kamstrup Stavroula Kanoni Jaakko Kaprio Maria Karaleftheri Sharon L R Kardia Fredrik Karpe Sekar Kathiresan Frank Kee Lambertus A Kiemeney Eric Kim Hidetoshi Kitajima Pirjo Komulainen Jaspal S Kooner Charles Kooperberg Tellervo Korhonen Peter Kovacs Helena Kuivaniemi Zoltán Kutalik Kari Kuulasmaa Johanna Kuusisto Markku Laakso Timo A Lakka David Lamparter Ethan M Lange Leslie A Lange Claudia Langenberg Eric B Larson Nanette R Lee Terho Lehtimäki Cora E Lewis Huaixing Li Jin Li Ruifang Li-Gao Honghuang Lin Keng-Hung Lin Li-An Lin Xu Lin Lars Lind Jaana Lindström Allan Linneberg Ching-Ti Liu Dajiang J Liu Yongmei Liu Ken S Lo Artitaya Lophatananon Andrew J Lotery Anu Loukola Jian'an Luan Steven A Lubitz Leo-Pekka Lyytikäinen Satu Männistö Gaëlle Marenne Angela L Mazul Mark I McCarthy Roberta McKean-Cowdin Sarah E Medland Karina Meidtner Lili Milani Vanisha Mistry Paul Mitchell Karen L Mohlke Leena Moilanen Marie Moitry Grant W Montgomery Dennis O Mook-Kanamori Carmel Moore Trevor A Mori Andrew D Morris Andrew P Morris Martina Müller-Nurasyid Patricia B Munroe Mike A Nalls Narisu Narisu Christopher P Nelson Matt Neville Sune F Nielsen Kjell Nikus Pål R Njølstad Børge G Nordestgaard Dale R Nyholt Jeffrey R O'Connel Michelle L O'Donoghue Loes M Olde Loohuis Roel A Ophoff Katharine R Owen Chris J Packard Sandosh Padmanabhan Colin N A Palmer Nicholette D Palmer Gerard Pasterkamp Aniruddh P Patel Alison Pattie Oluf Pedersen Peggy L Peissig Gina M Peloso Craig E Pennell Markus Perola James A Perry John R B Perry Tune H Pers Thomas N Person Annette Peters Eva R B Petersen Patricia A Peyser Ailith Pirie Ozren Polasek Tinca J Polderman Hannu Puolijoki Olli T Raitakari Asif Rasheed Rainer Rauramaa Dermot F Reilly Frida Renström Myriam Rheinberger Paul M Ridker John D Rioux Manuel A Rivas David J Roberts Neil R Robertson Antonietta Robino Olov Rolandsson Igor Rudan Katherine S Ruth Danish Saleheen Veikko Salomaa Nilesh J Samani Yadav Sapkota Naveed Sattar Robert E Schoen Pamela J Schreiner Matthias B Schulze Robert A Scott Marcelo P Segura-Lepe Svati H Shah Wayne H-H Sheu Xueling Sim Andrew J Slater Kerrin S Small Albert V Smith Lorraine Southam Timothy D Spector Elizabeth K Speliotes John M Starr Kari Stefansson Valgerdur Steinthorsdottir Kathleen E Stirrups Konstantin Strauch Heather M Stringham Michael Stumvoll Liang Sun Praveen Surendran Amy J Swift Hayato Tada Katherine E Tansey Jean-Claude Tardif Kent D Taylor Alexander Teumer Deborah J Thompson Gudmar Thorleifsson Unnur Thorsteinsdottir Betina H Thuesen Anke Tönjes Gerard Tromp Stella Trompet Emmanouil Tsafantakis Jaakko Tuomilehto Anne Tybjaerg-Hansen Jonathan P Tyrer Rudolf Uher André G Uitterlinden Matti Uusitupa Sander W Laan Cornelia M Duijn Nienke Leeuwen Jessica van Setten Mauno Vanhala Anette Varbo Tibor V Varga Rohit Varma Digna R Velez Edwards Sita H Vermeulen Giovanni Veronesi Henrik Vestergaard Veronique Vitart Thomas F Vogt Uwe Völker Dragana Vuckovic Lynne E Wagenknecht Mark Walker Lars Wallentin Feijie Wang Carol A Wang Shuai Wang Yiqin Wang Erin B Ware Nicholas J Wareham Helen R Warren Dawn M Waterworth Jennifer Wessel Harvey D White Cristen J Willer James G Wilson Daniel R Witte Andrew R Wood Ying Wu Hanieh Yaghootkar Jie Yao Pang Yao Laura M Yerges-Armstrong Robin Young Eleftheria Zeggini Xiaowei Zhan Weihua Zhang Jing Hua Zhao Wei Zhao Wei Zhao Wei Zhou Krina T Zondervan Jerome I Rotter John A Pospisilik Fernando Rivadeneira Ingrid B Borecki Panos Deloukas Timothy M Frayling Guillaume Lettre Kari E North Cecilia M Lindgren Joel N Hirschhorn Ruth J F Loos

Nat Genet 2018 Jan 22;50(1):26-41. Epub 2017 Dec 22.

Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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January 2018

Learning-dependent chromatin remodeling highlights noncoding regulatory regions linked to autism.

Sci Signal 2018 Jan 16;11(513). Epub 2018 Jan 16.

Department of Biomedical Sciences, Elson S. Floyd College of Medicine. Washington State University, Spokane, WA 99202, USA.

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January 2018

Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders.

JAMA Psychiatry 2017 Nov;74(11):1161-1168

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania.

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November 2017

Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders.

Genome Med 2017 Nov 30;9(1):106. Epub 2017 Nov 30.

The Center for Applied Genomics, Abramson Research Center, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.

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November 2017

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Authors:
Rebecca Sims Sven J van der Lee Adam C Naj Céline Bellenguez Nandini Badarinarayan Johanna Jakobsdottir Brian W Kunkle Anne Boland Rachel Raybould Joshua C Bis Eden R Martin Benjamin Grenier-Boley Stefanie Heilmann-Heimbach Vincent Chouraki Amanda B Kuzma Kristel Sleegers Maria Vronskaya Agustin Ruiz Robert R Graham Robert Olaso Per Hoffmann Megan L Grove Badri N Vardarajan Mikko Hiltunen Markus M Nöthen Charles C White Kara L Hamilton-Nelson Jacques Epelbaum Wolfgang Maier Seung-Hoan Choi Gary W Beecham Cécile Dulary Stefan Herms Albert V Smith Cory C Funk Céline Derbois Andreas J Forstner Shahzad Ahmad Hongdong Li Delphine Bacq Denise Harold Claudia L Satizabal Otto Valladares Alessio Squassina Rhodri Thomas Jennifer A Brody Liming Qu Pascual Sánchez-Juan Taniesha Morgan Frank J Wolters Yi Zhao Florentino Sanchez Garcia Nicola Denning Myriam Fornage John Malamon Maria Candida Deniz Naranjo Elisa Majounie Thomas H Mosley Beth Dombroski David Wallon Michelle K Lupton Josée Dupuis Patrice Whitehead Laura Fratiglioni Christopher Medway Xueqiu Jian Shubhabrata Mukherjee Lina Keller Kristelle Brown Honghuang Lin Laura B Cantwell Francesco Panza Bernadette McGuinness Sonia Moreno-Grau Jeremy D Burgess Vincenzo Solfrizzi Petra Proitsi Hieab H Adams Mariet Allen Davide Seripa Pau Pastor L Adrienne Cupples Nathan D Price Didier Hannequin Ana Frank-García Daniel Levy Paramita Chakrabarty Paolo Caffarra Ina Giegling Alexa S Beiser Vilmantas Giedraitis Harald Hampel Melissa E Garcia Xue Wang Lars Lannfelt Patrizia Mecocci Gudny Eiriksdottir Paul K Crane Florence Pasquier Virginia Boccardi Isabel Henández Robert C Barber Martin Scherer Lluis Tarraga Perrie M Adams Markus Leber Yuning Chen Marilyn S Albert Steffi Riedel-Heller Valur Emilsson Duane Beekly Anne Braae Reinhold Schmidt Deborah Blacker Carlo Masullo Helena Schmidt Rachelle S Doody Gianfranco Spalletta W T Longstreth Thomas J Fairchild Paola Bossù Oscar L Lopez Matthew P Frosch Eleonora Sacchinelli Bernardino Ghetti Qiong Yang Ryan M Huebinger Frank Jessen Shuo Li M Ilyas Kamboh John Morris Oscar Sotolongo-Grau Mindy J Katz Chris Corcoran Melanie Dunstan Amy Braddel Charlene Thomas Alun Meggy Rachel Marshall Amy Gerrish Jade Chapman Miquel Aguilar Sarah Taylor Matt Hill Mònica Díez Fairén Angela Hodges Bruno Vellas Hilkka Soininen Iwona Kloszewska Makrina Daniilidou James Uphill Yogen Patel Joseph T Hughes Jenny Lord James Turton Annette M Hartmann Roberta Cecchetti Chiara Fenoglio Maria Serpente Marina Arcaro Carlo Caltagirone Maria Donata Orfei Antonio Ciaramella Sabrina Pichler Manuel Mayhaus Wei Gu Alberto Lleó Juan Fortea Rafael Blesa Imelda S Barber Keeley Brookes Chiara Cupidi Raffaele Giovanni Maletta David Carrell Sandro Sorbi Susanne Moebus Maria Urbano Alberto Pilotto Johannes Kornhuber Paolo Bosco Stephen Todd David Craig Janet Johnston Michael Gill Brian Lawlor Aoibhinn Lynch Nick C Fox John Hardy Roger L Albin Liana G Apostolova Steven E Arnold Sanjay Asthana Craig S Atwood Clinton T Baldwin Lisa L Barnes Sandra Barral Thomas G Beach James T Becker Eileen H Bigio Thomas D Bird Bradley F Boeve James D Bowen Adam Boxer James R Burke Jeffrey M Burns Joseph D Buxbaum Nigel J Cairns Chuanhai Cao Chris S Carlson Cynthia M Carlsson Regina M Carney Minerva M Carrasquillo Steven L Carroll Carolina Ceballos Diaz Helena C Chui David G Clark David H Cribbs Elizabeth A Crocco Charles DeCarli Malcolm Dick Ranjan Duara Denis A Evans Kelley M Faber Kenneth B Fallon David W Fardo Martin R Farlow Steven Ferris Tatiana M Foroud Douglas R Galasko Marla Gearing Daniel H Geschwind John R Gilbert Neill R Graff-Radford Robert C Green John H Growdon Ronald L Hamilton Lindy E Harrell Lawrence S Honig Matthew J Huentelman Christine M Hulette Bradley T Hyman Gail P Jarvik Erin Abner Lee-Way Jin Gyungah Jun Anna Karydas Jeffrey A Kaye Ronald Kim Neil W Kowall Joel H Kramer Frank M LaFerla James J Lah James B Leverenz Allan I Levey Ge Li Andrew P Lieberman Kathryn L Lunetta Constantine G Lyketsos Daniel C Marson Frank Martiniuk Deborah C Mash Eliezer Masliah Wayne C McCormick Susan M McCurry Andrew N McDavid Ann C McKee Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller John C Morris Jill R Murrell Amanda J Myers Sid O'Bryant John M Olichney Vernon S Pankratz Joseph E Parisi Henry L Paulson William Perry Elaine Peskind Aimee Pierce Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Murray Raskind Barry Reisberg Christiane Reitz John M Ringman Erik D Roberson Ekaterina Rogaeva Howard J Rosen Roger N Rosenberg Mark A Sager Andrew J Saykin Julie A Schneider Lon S Schneider William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Rudolph E Tanzi Tricia A Thornton-Wells John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Fabienne Garzia Feroze Golamaully Gislain Septier Sebastien Engelborghs Rik Vandenberghe Peter P De Deyn Carmen Muñoz Fernadez Yoland Aladro Benito Hakan Thonberg Charlotte Forsell Lena Lilius Anne Kinhult-Stählbom Lena Kilander RoseMarie Brundin Letizia Concari Seppo Helisalmi Anne Maria Koivisto Annakaisa Haapasalo Vincent Dermecourt Nathalie Fievet Olivier Hanon Carole Dufouil Alexis Brice Karen Ritchie Bruno Dubois Jayanadra J Himali C Dirk Keene JoAnn Tschanz Annette L Fitzpatrick Walter A Kukull Maria Norton Thor Aspelund Eric B Larson Ron Munger Jerome I Rotter Richard B Lipton María J Bullido Albert Hofman Thomas J Montine Eliecer Coto Eric Boerwinkle Ronald C Petersen Victoria Alvarez Fernando Rivadeneira Eric M Reiman Maura Gallo Christopher J O'Donnell Joan S Reisch Amalia Cecilia Bruni Donald R Royall Martin Dichgans Mary Sano Daniela Galimberti Peter St George-Hyslop Elio Scarpini Debby W Tsuang Michelangelo Mancuso Ubaldo Bonuccelli Ashley R Winslow Antonio Daniele Chuang-Kuo Wu Oliver Peters Benedetta Nacmias Matthias Riemenschneider Reinhard Heun Carol Brayne David C Rubinsztein Jose Bras Rita Guerreiro Ammar Al-Chalabi Christopher E Shaw John Collinge David Mann Magda Tsolaki Jordi Clarimón Rebecca Sussams Simon Lovestone Michael C O'Donovan Michael J Owen Timothy W Behrens Simon Mead Alison M Goate Andre G Uitterlinden Clive Holmes Carlos Cruchaga Martin Ingelsson David A Bennett John Powell Todd E Golde Caroline Graff Philip L De Jager Kevin Morgan Nilufer Ertekin-Taner Onofre Combarros Bruce M Psaty Peter Passmore Steven G Younkin Claudine Berr Vilmundur Gudnason Dan Rujescu Dennis W Dickson Jean-François Dartigues Anita L DeStefano Sara Ortega-Cubero Hakon Hakonarson Dominique Campion Merce Boada John Keoni Kauwe Lindsay A Farrer Christine Van Broeckhoven M Arfan Ikram Lesley Jones Jonathan L Haines Christophe Tzourio Lenore J Launer Valentina Escott-Price Richard Mayeux Jean-François Deleuze Najaf Amin Peter A Holmans Margaret A Pericak-Vance Philippe Amouyel Cornelia M van Duijn Alfredo Ramirez Li-San Wang Jean-Charles Lambert Sudha Seshadri Julie Williams Gerard D Schellenberg

Nat Genet 2017 09 17;49(9):1373-1384. Epub 2017 Jul 17.

Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

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September 2017

GDF15 is a heart-derived hormone that regulates body growth.

EMBO Mol Med 2017 08;9(8):1150-1164

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA

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August 2017

Pain versus analgesia: TAOK3 as a pharmacogene.

Pain 2017 Aug;158(8):1622-1623

aDepartment of Anesthesiology and Critical Care Medicine, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA bThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA cDepartment of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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August 2017

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

Circ Cardiovasc Genet 2017 Jun;10(3):e001449

From the Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, UTHealth School of Public Health, Houston (A.J.A., A.S., L.E.M.); Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (E.G.); and Division of Cardiology (E.G., H.H.), Center for Applied Genomics (H.H.), and Department of Biomedical and Health Informatics (D.T.), The Children's Hospital of Philadelphia, PA.

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June 2017

Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.

Hum Mutat 2017 05 10;38(5):507-510. Epub 2017 Mar 10.

The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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May 2017

Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.

J Clin Endocrinol Metab 2017 05;102(5):1726-1733

Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104.

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May 2017

CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations.

J Clin Endocrinol Metab 2017 05;102(5):1440-1446

Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104.

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May 2017

Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c.

Bone 2017 04 7;97:15-19. Epub 2016 Dec 7.

Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address:

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April 2017

Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium.

Authors:
Maggie C Y Ng Mariaelisa Graff Yingchang Lu Anne E Justice Poorva Mudgal Ching-Ti Liu Kristin Young Lisa R Yanek Mary F Feitosa Mary K Wojczynski Kristin Rand Jennifer A Brody Brian E Cade Latchezar Dimitrov Qing Duan Xiuqing Guo Leslie A Lange Michael A Nalls Hayrettin Okut Salman M Tajuddin Bamidele O Tayo Sailaja Vedantam Jonathan P Bradfield Guanjie Chen Wei-Min Chen Alessandra Chesi Marguerite R Irvin Badri Padhukasahasram Jennifer A Smith Wei Zheng Matthew A Allison Christine B Ambrosone Elisa V Bandera Traci M Bartz Sonja I Berndt Leslie Bernstein William J Blot Erwin P Bottinger John Carpten Stephen J Chanock Yii-Der Ida Chen David V Conti Richard S Cooper Myriam Fornage Barry I Freedman Melissa Garcia Phyllis J Goodman Yu-Han H Hsu Jennifer Hu Chad D Huff Sue A Ingles Esther M John Rick Kittles Eric Klein Jin Li Barbara McKnight Uma Nayak Barbara Nemesure Adesola Ogunniyi Andrew Olshan Michael F Press Rebecca Rohde Benjamin A Rybicki Babatunde Salako Maureen Sanderson Yaming Shao David S Siscovick Janet L Stanford Victoria L Stevens Alex Stram Sara S Strom Dhananjay Vaidya John S Witte Jie Yao Xiaofeng Zhu Regina G Ziegler Alan B Zonderman Adebowale Adeyemo Stefan Ambs Mary Cushman Jessica D Faul Hakon Hakonarson Albert M Levin Katherine L Nathanson Erin B Ware David R Weir Wei Zhao Degui Zhi Donna K Arnett Struan F A Grant Sharon L R Kardia Olufunmilayo I Oloapde D C Rao Charles N Rotimi Michele M Sale L Keoki Williams Babette S Zemel Diane M Becker Ingrid B Borecki Michele K Evans Tamara B Harris Joel N Hirschhorn Yun Li Sanjay R Patel Bruce M Psaty Jerome I Rotter James G Wilson Donald W Bowden L Adrienne Cupples Christopher A Haiman Ruth J F Loos Kari E North

PLoS Genet 2017 Apr 21;13(4):e1006719. Epub 2017 Apr 21.

Department of Epidemiology, University of North Carolina, Chapel Hill, NC, United States of America.

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April 2017

Rare copy number variants in patients with congenital conotruncal heart defects.

Birth Defects Res 2017 Mar 13;109(4):271-295. Epub 2017 Feb 13.

Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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March 2017

PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study.

Authors:
Amand F Schmidt Daniel I Swerdlow Michael V Holmes Riyaz S Patel Zammy Fairhurst-Hunter Donald M Lyall Fernando Pires Hartwig Bernardo Lessa Horta Elina Hyppönen Christine Power Max Moldovan Erik van Iperen G Kees Hovingh Ilja Demuth Kristina Norman Elisabeth Steinhagen-Thiessen Juri Demuth Lars Bertram Tian Liu Stefan Coassin Johann Willeit Stefan Kiechl Karin Willeit Dan Mason John Wright Richard Morris Goya Wanamethee Peter Whincup Yoav Ben-Shlomo Stela McLachlan Jackie F Price Mika Kivimaki Catherine Welch Adelaida Sanchez-Galvez Pedro Marques-Vidal Andrew Nicolaides Andrie G Panayiotou N Charlotte Onland-Moret Yvonne T van der Schouw Giuseppe Matullo Giovanni Fiorito Simonetta Guarrera Carlotta Sacerdote Nicholas J Wareham Claudia Langenberg Robert Scott Jian'an Luan Martin Bobak Sofia Malyutina Andrzej Pająk Ruzena Kubinova Abdonas Tamosiunas Hynek Pikhart Lise Lotte Nystrup Husemoen Niels Grarup Oluf Pedersen Torben Hansen Allan Linneberg Kenneth Starup Simonsen Jackie Cooper Steve E Humphries Murray Brilliant Terrie Kitchner Hakon Hakonarson David S Carrell Catherine A McCarty H Lester Kirchner Eric B Larson David R Crosslin Mariza de Andrade Dan M Roden Joshua C Denny Cara Carty Stephen Hancock John Attia Elizabeth Holliday Martin O'Donnell Salim Yusuf Michael Chong Guillaume Pare Pim van der Harst M Abdullah Said Ruben N Eppinga Niek Verweij Harold Snieder Tim Christen Dennis O Mook-Kanamori Stefan Gustafsson Lars Lind Erik Ingelsson Raha Pazoki Oscar Franco Albert Hofman Andre Uitterlinden Abbas Dehghan Alexander Teumer Sebastian Baumeister Marcus Dörr Markus M Lerch Uwe Völker Henry Völzke Joey Ward Jill P Pell Daniel J Smith Tom Meade Anke H Maitland-van der Zee Ekaterina V Baranova Robin Young Ian Ford Archie Campbell Sandosh Padmanabhan Michiel L Bots Diederick E Grobbee Philippe Froguel Dorothée Thuillier Beverley Balkau Amélie Bonnefond Bertrand Cariou Melissa Smart Yanchun Bao Meena Kumari Anubha Mahajan Paul M Ridker Daniel I Chasman Alex P Reiner Leslie A Lange Marylyn D Ritchie Folkert W Asselbergs Juan-Pablo Casas Brendan J Keating David Preiss Aroon D Hingorani Naveed Sattar

Lancet Diabetes Endocrinol 2017 Feb 29;5(2):97-105. Epub 2016 Nov 29.

Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, UK. Electronic address:

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February 2017

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

N Engl J Med 2017 02 25;376(8):742-754. Epub 2017 Jan 25.

From the Division of Nephrology (E.L.-R., M.V., V.P.C., Z.Y., A.M., J.M., N.J.S., D.A.F., R.D., M.W., G.S.M., M.B., J.M.B., K.K., A.G.G., S.S.-C.) and the Division of Nephrology in Medicine and Zuckerman Mind Brain Behavior Institute (B.H.), the Departments of Systems Biology (D.S.P., B.H.), Biochemistry and Molecular Biophysics (B.H.), and Pathology (V.D.), and the Howard Hughes Medical Institute (D.S.P., B.H.), Columbia University, and the Department of Genetics and Development, Columbia University Medical Center (Q.L., V.E.P.), New York, and the Department of Genetics, Albert Einstein College of Medicine, Bronx (S.E.R., B.E.M.) - all in New York; the Center for Human Disease Modeling, Duke University, Durham, NC (Y.P.L., B.R.A., N. Katsanis); the Departments of Internal Medicine-Nephrology (E.A.O.) and Pediatrics-Nephrology (M.G.S., C.E.G., V.V.-W.), University of Michigan School of Medicine, Ann Arbor; the Department of Anatomy, Histology, and Embryology, School of Medicine, University of Split (K.V., M.S.-B.), and the Departments of Pediatrics (A.A., M. Saraga) and Pathology (N. Kunac), University Hospital of Split, Split, Croatia; the Department of Pediatric Nephrology, VU University Medical Center, Amsterdam (R.W., J.A.E.W.); the Department of Medicine, Boston Children's Hospital (A.V., F.H.), and Harvard Medical School, Boston (A.V., F.H., I.A.D.), and the Nephrology Division, Massachusetts General Hospital, Charlestown (I.A.D.) - all in Massachusetts; the Division of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa (M.B., A.C., G.M.G.), the Department of Clinical and Experimental Medicine, University of Parma (M.B., M. Maiorana, L.A.), and the Pediatric Surgery Unit, University Hospital of Parma (E.C.), Parma, the Section of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.), the Department of Medical Sciences, University of Milano, and Institute of Biomedical Technologies, Italian National Institute of Research ITB-CNR, Milan (D.C.), and Dipartimento Ostetrico-Ginecologico e Seconda Divisione di Nefrologia ASST Spedali Civili e Presidio di Montichiari (C.I.) and Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari (F.S.), Brescia - all in Italy; the Department of General and Transplant Surgery, University Hospital of Heidelberg, Germany (V.J.L.); the Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (R.S., L.H., C.J.), INSERM UMR 1163, Laboratory of Hereditary Kidney Diseases (R.S.), Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cite University, Imagine Institute (R.S.), Sorbonne Universités, UPMC 06, Plateforme Post-génomique de la Pitié-Salpêtrière, UMS 2 Omique, Inserm US029 (W.C.), Paris, and the Department of Genetics, Centre Hospitalier Universitaire de Reims, Unité de Formation et de Recherche de Médecine, Reims (D.G.) - both in France; the Department of Neurology, University of Washington School of Medicine, and Northwest VA Parkinson's Disease Research, Education and Clinical Centers, Seattle (A. Samii); the Division of Human Genetics, Department of Pediatrics, 22q and You Center, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania (D.M.M.-M., T.B.C., E.H.Z., S.L.F.), Division of Nephrology, Children's Hospital of Philadelphia (S.L.F.), and the Department of Genetics, University of Pennsylvania (H.H.), Philadelphia; the Dialysis Unit, Jagiellonian University Medical College (D.D.), and the Department of Pediatric Nephrology, Jagiellonian University Medical College (M. Miklaszewska), Krakow, the Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz (M.T.), the Department of Pediatric Nephrology Medical University of Lublin, Lublin (P.S.), the Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice (M. Szczepanska), the Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw (M.M.-W., G.K., A. Szmigielska), and Krysiewicza Children's Hospital (M.Z.) and the Department of Medical Genetics, Poznan University of Medical Sciences, and Center for Medical Genetics GENESIS (A.L.-B., A.M.-K.), Poznań - all in Poland; the Department of Clinical Genetics (J.M.D., D.B.), National Children's Research Centre (J.M.D., P.P.), and University College Dublin School of Medicine (D.B.), Our Lady's Children's Hospital Crumlin, and the National Children's Hospital Tallaght (P.P.), Dublin, Ireland; the Division of Pediatric Nephrology, Children's Mercy Hospital, Kansas City, MO (B.A.W.); University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia (Z.G., V.T.); Faculty of Medicine, Palacky University, Olomouc, Czech Republic (H.F.); the Division of Pediatric Nephrology, University of New Mexico Children's Hospital, Albuquerque (C.S.W.); Ben May Department for Cancer Research, University of Chicago, Chicago (A.I.); and the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (R.P.L.).

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February 2017

Copy number variation analysis reveals additional variants contributing to endometriosis development.

J Assist Reprod Genet 2017 Jan 5;34(1):117-124. Epub 2016 Nov 5.

Collective Health Department, Division of Sexual and Reproductive Health Care and Population Genetics, Faculdade de Medicina do ABC, Santo André, SP, Brazil.

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January 2017

A current snapshot of common genomic variants contribution in psychiatric disorders.

Am J Med Genet B Neuropsychiatr Genet 2016 12 3;171(8):997-1005. Epub 2016 Aug 3.

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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December 2016

Mendelian randomization analysis demonstrates that low vitamin D is unlikely causative for pediatric asthma.

J Allergy Clin Immunol 2016 12 20;138(6):1747-1749.e4. Epub 2016 Aug 20.

Center for Applied Genomics, the Children's Hospital of Philadelphia, Philadelphia, Pa; Division of Pulmonary Medicine, the Children's Hospital of Philadelphia, Philadelphia, Pa; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa. Electronic address:

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December 2016

CYP2B6*6 or Not CYP2B6*6-That Remains a Question for Precision Medicine and Ketamine!

Anesthesiology 2016 12;125(6):1085-1087

From the Department of Anesthesiology and Critical Care Medicine (S.D.C.-S.), Department of Pediatrics (P.C.A.), and Department of Pediatrics and the Center for Applied Genomics (J.L., H.H.), The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

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December 2016

Loss of EGFR-ASAP1 signaling in metastatic and unresectable hepatoblastoma.

Sci Rep 2016 12 2;6:38347. Epub 2016 Dec 2.

Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, 4401 Penn Avenue, Pediatric Abdominal Transplant Surgery, Pittsburgh, PA 15224, USA.

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December 2016

Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches.

Biochim Biophys Acta 2016 11 15;1860(11 Pt B):2656-63. Epub 2016 Jun 15.

Center for Applied Genomics, Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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November 2016

Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.

BMC Musculoskelet Disord 2016 11 9;17(1):462. Epub 2016 Nov 9.

Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd Ste 1216, Philadelphia, PA, 19104, USA.

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November 2016

Genome-wide associations for birth weight and correlations with adult disease.

Authors:
Momoko Horikoshi Robin N Beaumont Felix R Day Nicole M Warrington Marjolein N Kooijman Juan Fernandez-Tajes Bjarke Feenstra Natalie R van Zuydam Kyle J Gaulton Niels Grarup Jonathan P Bradfield David P Strachan Ruifang Li-Gao Tarunveer S Ahluwalia Eskil Kreiner Rico Rueedi Leo-Pekka Lyytikäinen Diana L Cousminer Ying Wu Elisabeth Thiering Carol A Wang Christian T Have Jouke-Jan Hottenga Natalia Vilor-Tejedor Peter K Joshi Eileen Tai Hui Boh Ioanna Ntalla Niina Pitkänen Anubha Mahajan Elisabeth M van Leeuwen Raimo Joro Vasiliki Lagou Michael Nodzenski Louise A Diver Krina T Zondervan Mariona Bustamante Pedro Marques-Vidal Josep M Mercader Amanda J Bennett Nilufer Rahmioglu Dale R Nyholt Ronald Ching Wan Ma Claudia Ha Ting Tam Wing Hung Tam Santhi K Ganesh Frank Ja van Rooij Samuel E Jones Po-Ru Loh Katherine S Ruth Marcus A Tuke Jessica Tyrrell Andrew R Wood Hanieh Yaghootkar Denise M Scholtens Lavinia Paternoster Inga Prokopenko Peter Kovacs Mustafa Atalay Sara M Willems Kalliope Panoutsopoulou Xu Wang Lisbeth Carstensen Frank Geller Katharina E Schraut Mario Murcia Catharina Em van Beijsterveldt Gonneke Willemsen Emil V R Appel Cilius E Fonvig Caecilie Trier Carla Mt Tiesler Marie Standl Zoltán Kutalik Sílvia Bonas-Guarch David M Hougaard Friman Sánchez David Torrents Johannes Waage Mads V Hollegaard Hugoline G de Haan Frits R Rosendaal Carolina Medina-Gomez Susan M Ring Gibran Hemani George McMahon Neil R Robertson Christopher J Groves Claudia Langenberg Jian'an Luan Robert A Scott Jing Hua Zhao Frank D Mentch Scott M MacKenzie Rebecca M Reynolds William L Lowe Anke Tönjes Michael Stumvoll Virpi Lindi Timo A Lakka Cornelia M van Duijn Wieland Kiess Antje Körner Thorkild Ia Sørensen Harri Niinikoski Katja Pahkala Olli T Raitakari Eleftheria Zeggini George V Dedoussis Yik-Ying Teo Seang-Mei Saw Mads Melbye Harry Campbell James F Wilson Martine Vrijheid Eco Jcn de Geus Dorret I Boomsma Haja N Kadarmideen Jens-Christian Holm Torben Hansen Sylvain Sebert Andrew T Hattersley Lawrence J Beilin John P Newnham Craig E Pennell Joachim Heinrich Linda S Adair Judith B Borja Karen L Mohlke Johan G Eriksson Elisabeth E Widén Mika Kähönen Jorma S Viikari Terho Lehtimäki Peter Vollenweider Klaus Bønnelykke Hans Bisgaard Dennis O Mook-Kanamori Albert Hofman Fernando Rivadeneira André G Uitterlinden Charlotta Pisinger Oluf Pedersen Christine Power Elina Hyppönen Nicholas J Wareham Hakon Hakonarson Eleanor Davies Brian R Walker Vincent Wv Jaddoe Marjo-Riitta Jarvelin Struan Fa Grant Allan A Vaag Debbie A Lawlor Timothy M Frayling George Davey Smith Andrew P Morris Ken K Ong Janine F Felix Nicholas J Timpson John Rb Perry David M Evans Mark I McCarthy Rachel M Freathy

Nature 2016 10 28;538(7624):248-252. Epub 2016 Sep 28.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon and Exeter Hospital, Exeter, UK.

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October 2016

Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia.

PLoS One 2016 24;11(3):e0151521. Epub 2016 Mar 24.

Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, United States of America.

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August 2016

A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.

J Allergy Clin Immunol 2016 08 23;138(2):599-601.e3. Epub 2016 Mar 23.

Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex. Electronic address:

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August 2016

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

Am J Med Genet A 2016 Aug 5;170(8):1967-73. Epub 2016 Jun 5.

Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.

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August 2016

Pathway-based Genome-wide Association Studies Reveal the Association Between Growth Factor Activity and Inflammatory Bowel Disease.

Inflamm Bowel Dis 2016 07;22(7):1540-51

*Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; †Department of Computer Science, New Jersey Institute of Technology, Newark, New Jersey; ‡Center for Pediatric Inflammatory Bowel Disease, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; §Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; and ‖Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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July 2016

Are genetic tests informative in predicting food allergy?

Curr Opin Allergy Clin Immunol 2016 06;16(3):257-64

aCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA bDepartment of Immunology, Landspitali University Hospital, Reykjavik, Iceland cDivision of Human Genetics, The Children's Hospital of Philadelphia dThe Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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June 2016

CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.

Brain 2016 06 5;139(Pt 6):1666-72. Epub 2016 May 5.

2 Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, 02114, USA 10 Program in Medical and Population Genetics, Broad Institute, Cambridge, 02142, MA, USA 12 Department of Anaesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.

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June 2016

The Added Value of Family Material in the Discovery of Multiple Sclerosis Genes.

Neuron 2016 06;90(5):905-6

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

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June 2016

From schizophrenia risk locus to schizophrenia genes.

Nat Med 2016 06;22(6):583-4

Center for Applied Genomics, Children's Hospital of Philadelphia and the Division of Human Genetics, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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June 2016

Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.

JIMD Rep 2017 26;32:117-124. Epub 2016 Jun 26.

Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW, 2145, Australia.

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June 2016

Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.

J Clin Endocrinol Metab 2016 05 10;101(5):2196-200. Epub 2016 Mar 10.

The Center for Applied Genomics (D.L., L.T., C.H., C.E.K., H.H.), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104; Department of Pediatrics (H.H., M.A.L.), University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104; and Division of Endocrinology and Diabetes and the Center for Bone Health (M.A.L.), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104.

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May 2016

Structural Brain Abnormalities in Youth With Psychosis Spectrum Symptoms.

JAMA Psychiatry 2016 May;73(5):515-24

Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, Philadelphia3Department of Radiology, University of Pennsylvania, Philadelphia.

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May 2016

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.

Case Rep Genet 2016 16;2016:4140780. Epub 2016 Mar 16.

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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April 2016

Association between Genetic Polymorphisms and Response to Anti-TNFs in Patients with Inflammatory Bowel Disease.

Int J Mol Sci 2016 Feb 6;17(2):225. Epub 2016 Feb 6.

Clinical Pharmacology Service, Hospital Universitario de la Princesa, Instituto de Investigación Sanitaria la Princesa (IP), Madrid 28006, Spain.

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February 2016

Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.

BMC Musculoskelet Disord 2016 Feb 16;17:80. Epub 2016 Feb 16.

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, 3615 Civic center Blvd, Philadelphia, PA, 19104, USA.

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February 2016