Hakon Hakonarson

Hakon Hakonarson

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tRNA-DL: A Deep Learning Approach to Improve tRNAscan-SE Prediction Results.

Hum Hered 2018 25;83(3):163-172. Epub 2019 Jan 25.

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

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http://dx.doi.org/10.1159/000493215DOI Listing
June 2019

Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa.

J Psychiatr Res 2019 Jun 29;113:34-38. Epub 2019 Jan 29.

The 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; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00223956183102
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http://dx.doi.org/10.1016/j.jpsychires.2019.01.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486445PMC
June 2019

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 2019 Jun 3. Epub 2019 Jun 3.

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

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http://dx.doi.org/10.1038/s41588-019-0447-2DOI Listing
June 2019

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

Authors:
Nicole M Warrington Robin N Beaumont Momoko Horikoshi Felix R Day Øyvind Helgeland Charles Laurin Jonas Bacelis Shouneng Peng Ke Hao Bjarke Feenstra Andrew R Wood Anubha Mahajan Jessica Tyrrell Neil R Robertson N William Rayner Zhen Qiao Gunn-Helen Moen Marc Vaudel Carmen J Marsit Jia Chen Michael Nodzenski Theresia M Schnurr Mohammad H Zafarmand Jonathan P Bradfield Niels Grarup Marjolein N Kooijman Ruifang Li-Gao Frank Geller Tarunveer S Ahluwalia Lavinia Paternoster Rico Rueedi Ville Huikari Jouke-Jan Hottenga Leo-Pekka Lyytikäinen Alana Cavadino Sarah Metrustry Diana L Cousminer Ying Wu Elisabeth Thiering Carol A Wang Christian T Have Natalia Vilor-Tejedor Peter K Joshi Jodie N Painter Ioanna Ntalla Ronny Myhre Niina Pitkänen Elisabeth M van Leeuwen Raimo Joro Vasiliki Lagou Rebecca C Richmond Ana Espinosa Sheila J Barton Hazel M Inskip John W Holloway Loreto Santa-Marina Xavier Estivill Wei Ang Julie A Marsh Christoph Reichetzeder Letizia Marullo Berthold Hocher Kathryn L Lunetta Joanne M Murabito Caroline L Relton Manolis Kogevinas Leda Chatzi Catherine Allard Luigi Bouchard Marie-France Hivert Ge Zhang Louis J Muglia Jani Heikkinen Camilla S Morgen Antoine H C van Kampen Barbera D C van Schaik Frank D Mentch Claudia Langenberg Jian'an Luan Robert A Scott Jing Hua Zhao Gibran Hemani Susan M Ring Amanda J Bennett Kyle J Gaulton Juan Fernandez-Tajes Natalie R van Zuydam Carolina Medina-Gomez Hugoline G de Haan Frits R Rosendaal Zoltán Kutalik Pedro Marques-Vidal Shikta Das Gonneke Willemsen Hamdi Mbarek Martina Müller-Nurasyid Marie Standl Emil V R Appel Cilius E Fonvig Caecilie Trier Catharina E M van Beijsterveldt Mario Murcia Mariona Bustamante Sílvia Bonas-Guarch David M Hougaard Josep M Mercader Allan Linneberg Katharina E Schraut Penelope A Lind Sarah E Medland Beverley M Shields Bridget A Knight Jin-Fang Chai Kalliope Panoutsopoulou Meike Bartels Friman Sánchez Jakob Stokholm David Torrents Rebecca K Vinding Sara M Willems Mustafa Atalay Bo L Chawes Peter Kovacs Inga Prokopenko Marcus A Tuke Hanieh Yaghootkar Katherine S Ruth Samuel E Jones Po-Ru Loh Anna Murray Michael N Weedon Anke Tönjes Michael Stumvoll Kim F Michaelsen Aino-Maija Eloranta Timo A Lakka Cornelia M van Duijn Wieland Kiess Antje Körner Harri Niinikoski Katja Pahkala Olli T Raitakari Bo Jacobsson Eleftheria Zeggini George V Dedoussis Yik-Ying Teo Seang-Mei Saw Grant W Montgomery Harry Campbell James F Wilson Tanja G M Vrijkotte Martine Vrijheid Eco J C N de Geus M Geoffrey Hayes Haja N Kadarmideen Jens-Christian Holm Lawrence J Beilin Craig E Pennell Joachim Heinrich Linda S Adair Judith B Borja Karen L Mohlke Johan G Eriksson Elisabeth E Widén Andrew T Hattersley Tim D Spector Mika Kähönen Jorma S Viikari Terho Lehtimäki Dorret I Boomsma Sylvain Sebert Peter Vollenweider Thorkild I A Sørensen Hans Bisgaard Klaus Bønnelykke Jeffrey C Murray Mads Melbye Ellen A Nohr Dennis O Mook-Kanamori Fernando Rivadeneira Albert Hofman Janine F Felix Vincent W V Jaddoe Torben Hansen Charlotta Pisinger Allan A Vaag Oluf Pedersen André G Uitterlinden Marjo-Riitta Järvelin Christine Power Elina Hyppönen Denise M Scholtens William L Lowe George Davey Smith Nicholas J Timpson Andrew P Morris Nicholas J Wareham Hakon Hakonarson Struan F A Grant Timothy M Frayling Debbie A Lawlor Pål R Njølstad Stefan Johansson Ken K Ong Mark I McCarthy John R B Perry David M Evans Rachel M Freathy

Nat Genet 2019 05 1;51(5):804-814. Epub 2019 May 1.

Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Royal Devon and Exeter Hospital, Exeter, UK.

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http://dx.doi.org/10.1038/s41588-019-0403-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6522365PMC
May 2019

Drug-resistant epilepsy classified by a phenotyping algorithm associates with NTRK2.

Acta Neurol Scand 2019 May 9. Epub 2019 May 9.

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

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http://dx.doi.org/10.1111/ane.13115DOI Listing
May 2019

Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum.

Am J Med Genet A 2019 Apr 4;179(4):655-658. Epub 2019 Feb 4.

Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.61060DOI Listing
April 2019

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Nat Genet 2019 04;51(4):764

Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1038/s41588-019-0376-0DOI Listing
April 2019

DGCR2 influences cortical thickness through a mechanism independent of schizophrenia pathogenesis.

Psychiatry Res 2019 04 27;274:391-394. Epub 2019 Feb 27.

Laboratório Interdisciplinar de Neurociências Clínicas (LiNC), Departamento de Psiquiatria, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil; Departamento de Psiquiatria, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.

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http://dx.doi.org/10.1016/j.psychres.2019.02.068DOI Listing
April 2019

Novel locus for atopic dermatitis in African Americans and replication in European Americans.

J Allergy Clin Immunol 2019 Mar 9;143(3):1229-1231. Epub 2018 Nov 9.

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pa; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa.

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http://dx.doi.org/10.1016/j.jaci.2018.10.038DOI Listing
March 2019

Effects of the interaction between genetic factors and maltreatment on child and adolescent psychiatric disorders.

Psychiatry Res 2019 Mar 29;273:575-577. Epub 2019 Jan 29.

Genetics Division of the Department of Morphology and Genetics, Universidade Federal de São Paulo (UNIFESP), Brazil; Interdisciplinary Laboratory of Clinical Neurosciences (LiNC), UNIFESP, Brazil; Department of Psychiatry, UNIFESP, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.psychres.2019.01.078DOI Listing
March 2019

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Authors:
Brian W Kunkle Benjamin Grenier-Boley Rebecca Sims Joshua C Bis Vincent Damotte Adam C Naj Anne Boland Maria Vronskaya Sven J van der Lee Alexandre Amlie-Wolf Céline Bellenguez Aura Frizatti Vincent Chouraki Eden R Martin Kristel Sleegers Nandini Badarinarayan Johanna Jakobsdottir Kara L Hamilton-Nelson Sonia Moreno-Grau Robert Olaso Rachel Raybould Yuning Chen Amanda B Kuzma Mikko Hiltunen Taniesha Morgan Shahzad Ahmad Badri N Vardarajan Jacques Epelbaum Per Hoffmann Merce Boada Gary W Beecham Jean-Guillaume Garnier Denise Harold Annette L Fitzpatrick Otto Valladares Marie-Laure Moutet Amy Gerrish Albert V Smith Liming Qu Delphine Bacq Nicola Denning Xueqiu Jian Yi Zhao Maria Del Zompo Nick C Fox Seung-Hoan Choi Ignacio Mateo Joseph T Hughes Hieab H Adams John Malamon Florentino Sanchez-Garcia Yogen Patel Jennifer A Brody Beth A Dombroski Maria Candida Deniz Naranjo Makrina Daniilidou Gudny Eiriksdottir Shubhabrata Mukherjee David Wallon James Uphill Thor Aspelund Laura B Cantwell Fabienne Garzia Daniela Galimberti Edith Hofer Mariusz Butkiewicz Bertrand Fin Elio Scarpini Chloe Sarnowski Will S Bush Stéphane Meslage Johannes Kornhuber Charles C White Yuenjoo Song Robert C Barber Sebastiaan Engelborghs Sabrina Sordon Dina Voijnovic Perrie M Adams Rik Vandenberghe Manuel Mayhaus L Adrienne Cupples Marilyn S Albert Peter P De Deyn Wei Gu Jayanadra J Himali Duane Beekly Alessio Squassina Annette M Hartmann Adelina Orellana Deborah Blacker Eloy Rodriguez-Rodriguez Simon Lovestone Melissa E Garcia Rachelle S Doody Carmen Munoz-Fernadez Rebecca Sussams Honghuang Lin Thomas J Fairchild Yolanda A Benito Clive Holmes Hata Karamujić-Čomić Matthew P Frosch Hakan Thonberg Wolfgang Maier Gena Roschupkin Bernardino Ghetti Vilmantas Giedraitis Amit Kawalia Shuo Li Ryan M Huebinger Lena Kilander Susanne Moebus Isabel Hernández M Ilyas Kamboh RoseMarie Brundin James Turton Qiong Yang Mindy J Katz Letizia Concari Jenny Lord Alexa S Beiser C Dirk Keene Seppo Helisalmi Iwona Kloszewska Walter A Kukull Anne Maria Koivisto Aoibhinn Lynch Lluís Tarraga Eric B Larson Annakaisa Haapasalo Brian Lawlor Thomas H Mosley Richard B Lipton Vincenzo Solfrizzi Michael Gill W T Longstreth Thomas J Montine Vincenza Frisardi Monica Diez-Fairen Fernando Rivadeneira Ronald C Petersen Vincent Deramecourt Ignacio Alvarez Francesca Salani Antonio Ciaramella Eric Boerwinkle Eric M Reiman Nathalie Fievet Jerome I Rotter Joan S Reisch Olivier Hanon Chiara Cupidi A G Andre Uitterlinden Donald R Royall Carole Dufouil Raffaele Giovanni Maletta Itziar de Rojas Mary Sano Alexis Brice Roberta Cecchetti Peter St George-Hyslop Karen Ritchie Magda Tsolaki Debby W Tsuang Bruno Dubois David Craig Chuang-Kuo Wu Hilkka Soininen Despoina Avramidou Roger L Albin Laura Fratiglioni Antonia Germanou Liana G Apostolova Lina Keller Maria Koutroumani Steven E Arnold Francesco Panza Olymbia Gkatzima Sanjay Asthana Didier Hannequin Patrice Whitehead Craig S Atwood Paolo Caffarra Harald Hampel Inés Quintela Ángel Carracedo Lars Lannfelt David C Rubinsztein Lisa L Barnes Florence Pasquier Lutz Frölich Sandra Barral Bernadette McGuinness Thomas G Beach Janet A Johnston James T Becker Peter Passmore Eileen H Bigio Jonathan M Schott Thomas D Bird Jason D Warren Bradley F Boeve Michelle K Lupton James D Bowen Petra Proitsi Adam Boxer John F Powell James R Burke John S K Kauwe Jeffrey M Burns Michelangelo Mancuso Joseph D Buxbaum Ubaldo Bonuccelli Nigel J Cairns Andrew McQuillin Chuanhai Cao Gill Livingston Chris S Carlson Nicholas J Bass Cynthia M Carlsson John Hardy Regina M Carney Jose Bras Minerva M Carrasquillo Rita Guerreiro Mariet Allen Helena C Chui Elizabeth Fisher Carlo Masullo Elizabeth A Crocco Charles DeCarli Gina Bisceglio Malcolm Dick Li Ma Ranjan Duara Neill R Graff-Radford Denis A Evans Angela Hodges Kelley M Faber Martin Scherer Kenneth B Fallon Matthias Riemenschneider David W Fardo Reinhard Heun Martin R Farlow Heike Kölsch Steven Ferris Markus Leber Tatiana M Foroud Isabella Heuser Douglas R Galasko Ina Giegling Marla Gearing Michael Hüll Daniel H Geschwind John R Gilbert John Morris Robert C Green Kevin Mayo John H Growdon Thomas Feulner Ronald L Hamilton Lindy E Harrell Dmitriy Drichel Lawrence S Honig Thomas D Cushion Matthew J Huentelman Paul Hollingworth Christine M Hulette Bradley T Hyman Rachel Marshall Gail P Jarvik Alun Meggy Erin Abner Georgina E Menzies Lee-Way Jin Ganna Leonenko Luis M Real Gyungah R Jun Clinton T Baldwin Detelina Grozeva Anna Karydas Giancarlo Russo Jeffrey A Kaye Ronald Kim Frank Jessen Neil W Kowall Bruno Vellas Joel H Kramer Emma Vardy Frank M LaFerla Karl-Heinz Jöckel James J Lah Martin Dichgans James B Leverenz David Mann Allan I Levey Stuart Pickering-Brown Andrew P Lieberman Norman Klopp Kathryn L Lunetta H-Erich Wichmann Constantine G Lyketsos Kevin Morgan Daniel C Marson Kristelle Brown Frank Martiniuk Christopher Medway Deborah C Mash Markus M Nöthen Eliezer Masliah Nigel M Hooper Wayne C McCormick Antonio Daniele Susan M McCurry Anthony Bayer Andrew N McDavid John Gallacher Ann C McKee Hendrik van den Bussche Marsel Mesulam Carol Brayne Bruce L Miller Steffi Riedel-Heller Carol A Miller Joshua W Miller Ammar Al-Chalabi John C Morris Christopher E Shaw Amanda J Myers Jens Wiltfang Sid O'Bryant John M Olichney Victoria Alvarez Joseph E Parisi Andrew B Singleton Henry L Paulson John Collinge William R Perry Simon Mead Elaine Peskind David H Cribbs Martin Rossor Aimee Pierce Natalie S Ryan Wayne W Poon Benedetta Nacmias Huntington Potter Sandro Sorbi Joseph F Quinn Eleonora Sacchinelli Ashok Raj Gianfranco Spalletta Murray Raskind Carlo Caltagirone Paola Bossù Maria Donata Orfei Barry Reisberg Robert Clarke Christiane Reitz A David Smith John M Ringman Donald Warden Erik D Roberson Gordon Wilcock Ekaterina Rogaeva Amalia Cecilia Bruni Howard J Rosen Maura Gallo Roger N Rosenberg Yoav Ben-Shlomo Mark A Sager Patrizia Mecocci Andrew J Saykin Pau Pastor Michael L Cuccaro Jeffery M Vance Julie A Schneider Lori S Schneider Susan Slifer William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Mitchell Tang Rudolph E Tanzi 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 Yasaman Saba Alberto Pilotto Maria J Bullido Oliver Peters Paul K Crane David Bennett Paola Bosco Eliecer Coto Virginia Boccardi Phil L De Jager Alberto Lleo Nick Warner Oscar L Lopez Martin Ingelsson Panagiotis Deloukas Carlos Cruchaga Caroline Graff Rhian Gwilliam Myriam Fornage Alison M Goate Pascual Sanchez-Juan Patrick G Kehoe Najaf Amin Nilifur Ertekin-Taner Claudine Berr Stéphanie Debette Seth Love Lenore J Launer Steven G Younkin Jean-Francois Dartigues Chris Corcoran M Arfan Ikram Dennis W Dickson Gael Nicolas Dominique Campion JoAnn Tschanz Helena Schmidt Hakon Hakonarson Jordi Clarimon Ron Munger Reinhold Schmidt Lindsay A Farrer Christine Van Broeckhoven Michael C O'Donovan Anita L DeStefano Lesley Jones Jonathan L Haines Jean-Francois Deleuze Michael J Owen Vilmundur Gudnason Richard Mayeux Valentina Escott-Price Bruce M Psaty Alfredo Ramirez Li-San Wang Agustin Ruiz Cornelia M van Duijn Peter A Holmans Sudha Seshadri Julie Williams Phillippe Amouyel Gerard D Schellenberg Jean-Charles Lambert Margaret A Pericak-Vance

Nat Genet 2019 03 28;51(3):414-430. Epub 2019 Feb 28.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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http://dx.doi.org/10.1038/s41588-019-0358-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6463297PMC
March 2019

Identification of Target Genes at Juvenile Idiopathic Arthritis GWAS Loci in Human Neutrophils.

Front Genet 2019 27;10:181. Epub 2019 Mar 27.

Department of Cell Biology, 2011 Collaborative Innovation Center of Tianjin for Medical Epigenetics, Tianjin Key Laboratory of Medical Epigenetics, Tianjin Medical University, Tianjin, China.

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http://dx.doi.org/10.3389/fgene.2019.00181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445851PMC
March 2019

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

Schizophr Res 2019 Feb 26;204:404-406. 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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https://linkinghub.elsevier.com/retrieve/pii/S09209964183047
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http://dx.doi.org/10.1016/j.schres.2018.07.026DOI Listing
February 2019

CLEC16A regulates splenocyte and NK cell function in part through MEK signaling.

PLoS One 2018 18;13(9):e0203952. Epub 2018 Sep 18.

The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0203952PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6143231PMC
February 2019

Candidate gene analyses for acute pain and morphine analgesia after pediatric day surgery: African American versus European Caucasian ancestry and dose prediction limits.

Pharmacogenomics J 2019 Feb 14. Epub 2019 Feb 14.

Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/s41397-019-0074-4DOI Listing
February 2019

The Autoimmune Disorder Susceptibility Gene Restrains NK Cell Function in YTS NK Cell Line and Knockout Mice.

Front Immunol 2019 1;10:68. Epub 2019 Feb 1.

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

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http://dx.doi.org/10.3389/fimmu.2019.00068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367972PMC
February 2019

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

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

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

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

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.

Mol Genet Metab 2019 01 11;126(1):77-82. Epub 2018 Dec 11.

Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.12.002DOI Listing
January 2019

The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Nat Genet 2019 01 21;51(1):117-127. Epub 2018 Dec 21.

Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.

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http://www.nature.com/articles/s41588-018-0281-y
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http://dx.doi.org/10.1038/s41588-018-0281-yDOI Listing
January 2019

Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency.

Neurology 2019 Jan;92(2):94-97

From the Movement Disorders Unit (H.M.-B., F.C., N.W., V.S.C.F.) and Epilepsy Unit (C.W.), Neurology Department, and Department of Clinical Genetics (A.M., S.A.S.), Westmead Hospital, Australia; Center for Applied Genomics (R.P.d.S., H.H., Y.G.), Children's Hospital of Philadelphia, PA; Discipline of Paediatrics and Child Health (S.A.S.) and Sydney Medical School (H.M.-B., F.C., V.S.C.F.), University of Sydney; Murdoch Children's Research Institute (J.C.), Melbourne; Department of Paediatrics (J.C.), Melbourne Medical School, University of Melbourne; Sunshine Coast Mind and Neuroscience (J.L.), Thompson Institute, University of the Sunshine Coast, Sippy Downs; and Department of Neurology (P.G.-S.), Children's Hospital at Westmead, Sydney, Australia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340345PMC
January 2019

Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.

J Clin Endocrinol Metab 2018 Nov;103(11):4023-4032

Center for Bone Health, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1210/jc.2018-01260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194809PMC
November 2018

Author Correction: 137 ancient human genomes from across the Eurasian steppes.

Nature 2018 11;563(7729):E16

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

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November 2018

Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia.

Front Genet 2018 28;9:434. Epub 2018 Sep 28.

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

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http://dx.doi.org/10.3389/fgene.2018.00434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6172705PMC
September 2018

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

EBioMedicine 2018 Aug 1;34:171-181. 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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6116417PMC
August 2018

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

PLoS Genet 2018 08 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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6107291PMC
August 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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372950PMC
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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http://dx.doi.org/10.1126/science.aap8757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097237PMC
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 05;50(5):765-766

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

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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 05;50(5):766-767

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

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May 2018

137 ancient human genomes from across the Eurasian steppes.

Nature 2018 05 9;557(7705):369-374. Epub 2018 May 9.

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

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http://www.nature.com/articles/s41586-018-0094-2
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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.

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http://dx.doi.org/10.21037/atm.2018.01.14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6015936PMC
April 2018

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

J Pediatr 2018 03 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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http://dx.doi.org/10.1016/j.jpeds.2017.11.011DOI Listing
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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931363PMC
March 2018

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

Circ Genom Precis Med 2018 03;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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5858599PMC
March 2018

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

Eur J Hum Genet 2018 02 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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http://dx.doi.org/10.1038/s41431-017-0041-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838995PMC
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 02;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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http://dx.doi.org/10.1093/hmg/ddx429DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886200PMC
February 2018

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

Transl Psychiatry 2018 02 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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http://dx.doi.org/10.1038/s41398-017-0030-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5804029PMC
February 2018

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

Am J Med Genet A 2018 01 12;176(1):75-81. Epub 2017 Nov 12.

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

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http://dx.doi.org/10.1002/ajmg.a.38516DOI Listing
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 01 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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http://dx.doi.org/10.1038/s41588-017-0011-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945951PMC
January 2018

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

Sci Signal 2018 01 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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http://dx.doi.org/10.1126/scisignal.aan6500DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180319PMC
January 2018

Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders.

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

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

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http://dx.doi.org/10.1001/jamapsychiatry.2017.2604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710217PMC
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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http://dx.doi.org/10.1038/ng.3916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669039PMC
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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http://embomolmed.embopress.org/lookup/doi/10.15252/emmm.201
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http://dx.doi.org/10.15252/emmm.201707604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538424PMC
August 2017

Pain versus analgesia: TAOK3 as a pharmacogene.

Pain 2017 08;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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http://dx.doi.org/10.1097/j.pain.0000000000000946DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5533294PMC
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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http://dx.doi.org/10.1161/CIRCGENETICS.116.001449DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5539991PMC
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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http://dx.doi.org/10.1002/humu.23188DOI Listing
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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http://dx.doi.org/10.1210/jc.2016-3836DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5443324PMC
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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http://dx.doi.org/10.1210/jc.2016-4048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5443336PMC
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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http://dx.doi.org/10.1016/j.bone.2016.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5367968PMC
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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http://dx.doi.org/10.1371/journal.pgen.1006719DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5419579PMC
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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http://dx.doi.org/10.1002/bdra.23609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407323PMC
March 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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http://dx.doi.org/10.1056/NEJMoa1609009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559731PMC
February 2017