Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice
Sarah J Garnai, Michelle L Brinkmeier, Ben Emery, Tomas S Aleman, Louise C Pyle, Biliana Veleva-Rotse, Robert A Sisk, Frank W Rozsa, Ayse Bilge Ozel, Jun Li, Sayoko Moroi, Steven Archer, Cheng-mao Lin, Sarah Sheskey, Laurel Wiinikka-Buesser, James Eadie, Jill E Urquhart, Graeme CM Black, Mohammad I Othman, Michael Boehnke, Scot A Sullivan, Gregory L Skuta, Hemant S Pawar, Alexander E Katz, Laryssa A Huryn, Robert B Hufnagel, Sally Camper, Julia Richards, Lev Prasov, Mark Johnson, Brenda Bohnsack, Susan Elner, Cagri Besirli
Genome-wide meta-analysis of SNP-by9-ACEI/ARB and SNP-by-thiazide diuretic and effect on serum potassium in cohorts of European and African ancestry
Marguerite R Irvin, Colleen M Sitlani, Raymond Noordam, Christie L Avery, Joshua C Bis, James S Floyd, Jun Li, Nita A Limdi, Vinodh Srinivasasainagendra, James Stewart, Renée de Mutsert, Dennis O Mook-Kanamori, Leonard Lipovich, Erica L Kleinbrink, Albert Smith, Traci M Bartz, Eric A Whitsel, Andre G Uitterlinden, Kerri L Wiggins, James G Wilson, Degui Zhi, Bruno H Stricker, Jerome I Rotter, Donna K Arnett, Bruce M Psaty, Leslie A Lange
Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels
Maria Sabater-Lleal, Jennifer E Huffman, Paul S de Vries, Jonathan Marten, Michael A Mastrangelo, Ci Song, Nathan Pankratz, Cavin K Ward-Caviness, Lisa R Yanek, Stella Trompet, Graciela E Delgado, Xiuqing Guo, Traci M Bartz, Angel Martinez-Perez, Marine Germain, Hugoline G de Haan, Ayse B Ozel, Ozren Polasek, Albert V Smith, John D Eicher, Alex P Reiner, Weihong Tang, Neil M Davies, David J Stott, Jerome I Rotter, Geoffrey H Tofler, Eric Boerwinkle, Moniek PM de Maat, Marcus E Kleber, Paul Welsh, Jennifer A Brody, Ming-Huei Chen, Dhananjay Vaidya, José Manuel Soria, Pierre Suchon, Astrid van Hylckama Vlieg, Karl Desch, Ivana Kolcic, Peter K Joshi, Lenore J Launer, Tamara B Harris, Harry Campbell, Igor Rudan, Lewis C Becker, Jun Li, Fernando Rivadeneira, André G Uitterlinden, Albert Hofman, Oscar H Franco, Mary Cushman, Bruce M Psaty, Pierre-Emmanuel Morange, Barbara McKnight, Michael R Chong, Israel Fernandez-Cadenas, Jonathan Rosand, Arne Lindgren, INVENT Consortium MEGASTROKE Consortium of the International Stroke Genetics Consortium, Vilmundur Gudnason, James F Wilson, Caroline Hayward, David Ginsburg, Myriam Fornage, Frits R Rosendaal, Juan Carlos Souto, Nancy S Jenny, Winfried März, J Wouter Jukema, Abbas Dehghan, David-Alexandre Trégouët, Alanna C Morrison, Andrew D Johnson, Christopher J O’Donnell, David P Strachan, Charles J Lowenstein, Nicholas L Smith
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
Davor Lessel, Ayse Bilge Ozel, Susan E Campbell, Abdelkrim Saadi, Martin Arlt, Keisha Melodi McSweeney, Vasilica Plaiasu, Katalin Szakszon, Anna Szőllős, Cristina Rusu, Armando J Rojas, Jaime Lopez-Valdez, Holger Thiele, Peter Nürnberg, Deborah A Nickerson, Michael J Bamshad, Jun Li, Christian Kubisch, Thomas Glover, Leslie B Gordon
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program
Derek Klarin, Scott M Damrauer, Kelly Cho, Yan V Sun, Tanya M Teslovich, Jacqueline Honerlaw, David R Gagnon, Scott L DuVall, Jun Li, Gina M Peloso, Mark Chaffin, Aeron M Small, Jie Huang, Hua Tang, Julie A Lynch, Yuk-Lam Ho, Dajiang J Liu, Connor A Emdin, Alexander H Li, Jennifer E Huffman, Jennifer S Lee, Pradeep Natarajan, Rajiv Chowdhury, Danish Saleheen, Marijana Vujkovic, Aris Baras, Saiju Pyarajan, Emanuele Di Angelantonio, Benjamin M Neale, Aliya Naheed, Amit V Khera, John Danesh, Kyong-Mi Chang, Gonçalo Abecasis, Cristen Willer, Frederick E Dewey, David J Carey, John Concato, J Michael Gaziano, Christopher J O’Donnell, Philip S Tsao, Sekar Kathiresan, Daniel J Rader, Peter WF Wilson, Themistocles L Assimes
Pharmacogenomics study of thiazide diuretics and QT interval in multi-ethnic populations: the cohorts for heart and aging research in genomic epidemiology
AA Seyerle, CM Sitlani, R Noordam, SM Gogarten, Jun Li, X Li, DS Evans, F Sun, MA Laaksonen, A Isaacs, K Kristiansson, HM Highland, JD Stewart, TB Harris, S Trompet, JC Bis, GM Peloso, JA Brody, L Broer, EL Busch, Q Duan, AM Stilp, CJ O'Donnell, PW Macfarlane, JS Floyd, JA Kors, HJ Lin, R Li-Gao, T Sofer, R Méndez-Giráldez, . Cummings, . Heckbert, A Hofman, I Ford, Y Li, LJ Launer, K Porthan, C Newton-Cheh, . Napier, KF Kerr, AP Reiner, KM Rice, J Roach, BM Buckley, EZ Soliman, R de Mutsert, N Sotoodehnia, AG Uitterlinden, KE North, CR Lee, V Gudnason, T Stürmer, FR Rosendaal, KD Taylor, KL Wiggins, JG Wilson, Y-DI Chen, RC Kaplan, K Wilhelmsen, LA Cupples, V Salomaa, C van Duijn, JW Jukema, Y Liu, . Mook-Kanamori, LA Lange, RS Vasan, AV Smith, BH Stricker, CC Laurie, JI Rotter, EA Whitsel, BM Psaty, CL Avery
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes
Anubha Mahajan, Jennifer Wessel, Sara M Willems, Wei Zhao, Neil R Robertson, Audrey Y Chu, Wei Gan, Hidetoshi Kitajima, Daniel Taliun, N William Rayner, Xiuqing Guo, Yingchang Lu, Man Li, Richard A Jensen, Yao Hu, Shaofeng Huo, Kurt K Lohman, Weihua Zhang, James P Cook, Bram Peter Prins, Jason Flannick, Niels Grarup, Vassily Vladimirovich Trubetskoy, Jasmina Kravic, Sung Soo Kim, Denis V Rybin, Hanieh Yaghootkar, Martina Müller-Nurasyid, Karina Meidtner, Ruifang Li-Gao, Tibor V Varga, Jonathan Marten, Jun Li, Albert Vernon Smith, Ping An, Symen Ligthart, Stefan Gustafsson, Giovanni Malerba, Ayse Demirkan, Juan Fernandez Tajes, Valgerdur Steinthorsdottir, Matthias Wuttke, Cécile Lecoeur, Michael Preuss, Lawrence Bielak, Marielisa Graff, Heather M Highland, Anne E Justice, Dajiang J Liu, Eirini Marouli, Gina Marie Peloso, Helen R Warren, ExomeBP Consortium, MAGIC Consortium, GIANT Consortium, Saima Afaq, Shoaib Afzal, Emma Ahlqvist, Peter Almgren, Najaf Amin, Lia B Bang, Alain G Bertoni, Cristina Bombieri, Jette Bork-Jensen, Ivan Brandslund, Jennifer A Brody, Noël P Burtt, Mickaël Canouil, Yii-Der Ida Chen, Yoon Shin Cho, Cramer Christensen, Sophie V Eastwood, Kai-Uwe Eckardt, Krista Fischer, Giovanni Gambaro, Vilmantas Giedraitis, Megan L Grove, Hugoline G de Haan, Sophie Hackinger, Yang Hai, Bok-Ghee Han, Anne Tybjærg-Hansen, Marie-France Hivert, Bo Isomaa, Susanne Jäger, Marit E Jørgensen, Torben Jørgensen, Annemari Käräjämäki, Heikki A Koistinen, Peter Kovacs, Jennifer Kriebel, Florian Kronenberg, Kristi Läll, Leslie A Lange, Jung-Jin Lee, Benjamin Lehne, Huaixing Li, Keng-Hung Lin, Allan Linneberg, Ching-Ti Liu, Jun Liu, Marie Loh, Reedik Mägi, Vasiliki Mamakou, Roberta McKean-Cowdin, Girish Nadkarni, Matt Neville, Sune F Nielsen, Ioanna Ntalla, Patricia Peyser, Wolfgang Rathmann, Kenneth Rice, Stephen S Rich, Line Rode, Olov Rolandsson, Sebastian Schönherr, Elizabeth Selvin, Kerrin S Small, Alena Stančáková, Praveen Surendran, Kent D Taylor, Tanya M Teslovich, Barbara Thorand, Gudmar Thorleifsson, Adrienne Tin, Anke Tönjes, Anette Varbo, Daniel R Witte, Andrew R Wood, Pranav Yajnik, Jie Yao, Loïc Yengo, Robin Young, Philippe Amouyel, Heiner Boeing, Eric Boerwinkle, Erwin P Bottinger, Rajiv Chowdhury, Francis S Collins, George Dedoussis, Abbas Dehghan, Panos Deloukas, Marco M Ferrario, Jean Ferrières, Jose C Florez, Philippe Frossard, Vilmundur Gudnason, Tamara B Harris, Susan R Heckbert, Joanna MM Howson, Martin Ingelsson, Sekar Kathiresan, Frank Kee, Johanna Kuusisto, Claudia Langenberg, Lenore J Launer, Cecilia M Lindgren, Satu Männistö, Thomas Meitinger, Olle Melander, Karen L Mohlke, Marie Moitry, Andrew D Morris, Alison D Murray, Renée de Mutsert, Marju Orho-Melander, Katharine R Owen, Markus Perola, Annette Peters, Michael A Province, Asif Rasheed, Paul M Ridker, Fernando Rivadineira, Frits R Rosendaal, Anders H Rosengren, Veikko Salomaa, Wayne H-H Sheu, Rob Sladek, Blair H Smith, Konstantin Strauch, André G Uitterlinden, Rohit Varma, Cristen J Willer, Matthias Blüher, Adam S Butterworth, John Campbell Chambers, Daniel I Chasman, John Danesh, Cornelia van Duijn, Josée Dupuis, Oscar H Franco, Paul W Franks, Philippe Froguel, Harald Grallert, Leif Groop, Torben Hansen, Andrew T Hattersley, Caroline Hayward, Erik Ingelsson, Sharon LR Kardia, Fredrik Karpe, Jaspal Singh Kooner, Anna Köttgen, Kari Kuulasmaa, Markku Laakso, Xu Lin, Lars Lind, Yongmei Liu, Ruth JF Loos, Jonathan Marchini, Andres Metspalu, Dennis Mook-Kanamori, Børge G Nordestgaard, Colin NA Palmer, James S Pankow, Oluf Pedersen, Bruce M Psaty, Rainer Rauramaa, Naveed Sattar, Matthias B Schulze, Nicole Soranzo, Timothy D Spector, Kari Stefansson, Michael Stumvoll, Unnur Thorsteinsdottir, Tiinamaija Tuomi, Jaakko Tuomilehto, Nicholas J Wareham, James G Wilson, Eleftheria Zeggini, Robert A Scott, Inês Barroso, Timothy M Frayling, Mark O Goodarzi, James B Meigs, Michael Boehnke, Danish Saleheen, Andrew P Morris, Jerome I Rotter, Mark I McCarthy, Sharon Kardia
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