Volume 100(1); 2017 Jan 5

Articles

Proteome-Scale Investigation of Protein Allosteric Regulation Perturbed by Somatic Mutations in 7,000 Cancer Genomes

Qiancheng Shen, Feixiong Cheng, Huili Song, Weiqiang Lu, Junfei Zhao, Xiaoli An, Mingyao Liu, Guoqiang Chen, Zhongming Zhao, Jian Zhang

Am J Hum Genet. 2017 Jan 5; 100(1): 5–20. Published online 2016 Dec 8. doi: 10.1016/j.ajhg.2016.09.020

PMCID:: PMC5223033

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Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

Dong-chuan Guo, Xue-Yan Duan, Ellen S. Regalado, Lauren Mellor-Crummey, Callie S. Kwartler, Dong Kim, Kenneth Lieberman, Bert B.A. de Vries, Rolph Pfundt, Albert Schinzel, Dieter Kotzot, Xuetong Shen, Min-Lee Yang, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Deborah A. Nickerson, Heather L. Gornik, Santhi K. Ganesh, Alan C. Braverman, Dorothy K. Grange, Dianna M. Milewicz

Am J Hum Genet. 2017 Jan 5; 100(1): 21–30. Published online 2016 Dec 8. doi: 10.1016/j.ajhg.2016.11.008

PMCID:: PMC5223026

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Mixed Model Association with Family-Biased Case-Control Ascertainment

Tristan J. Hayeck, Po-Ru Loh, Samuela Pollack, Alexander Gusev, Nick Patterson, Noah A. Zaitlen, Alkes L. Price

Am J Hum Genet. 2017 Jan 5; 100(1): 31–39. Published online 2016 Dec 22. doi: 10.1016/j.ajhg.2016.11.015

PMCID:: PMC5223022

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Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors

Ari V. Ahola-Olli, Peter Würtz, Aki S. Havulinna, Kristiina Aalto, Niina Pitkänen, Terho Lehtimäki, Mika Kähönen, Leo-Pekka Lyytikäinen, Emma Raitoharju, Ilkka Seppälä, Antti-Pekka Sarin, Samuli Ripatti, Aarne Palotie, Markus Perola, Jorma S. Viikari, Sirpa Jalkanen, Mikael Maksimow, Veikko Salomaa, Marko Salmi, Johannes Kettunen, Olli T. Raitakari

Am J Hum Genet. 2017 Jan 5; 100(1): 40–50. Published online 2016 Dec 15. doi: 10.1016/j.ajhg.2016.11.007

PMCID:: PMC5223028

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Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis

Frank J.A. van Rooij, Rehan Qayyum, Albert V. Smith, Yi Zhou, Stella Trompet, Toshiko Tanaka, Margaux F. Keller, Li-Ching Chang, Helena Schmidt, Min-Lee Yang, Ming-Huei Chen, James Hayes, Andrew D. Johnson, Lisa R. Yanek, Christian Mueller, Leslie Lange, James S. Floyd, Mohsen Ghanbari, Alan B. Zonderman, J. Wouter Jukema, Albert Hofman, Cornelia M. van Duijn, Karl C. Desch, Yasaman Saba, Ayse B. Ozel, Beverly M. Snively, Jer-Yuarn Wu, Reinhold Schmidt, Myriam Fornage, Robert J. Klein, Caroline S. Fox, Koichi Matsuda, Naoyuki Kamatani, Philipp S. Wild, David J. Stott, Ian Ford, P. Eline Slagboom, Jaden Yang, Audrey Y. Chu, Amy J. Lambert, André G. Uitterlinden, Oscar H. Franco, Edith Hofer, David Ginsburg, Bella Hu, Brendan Keating, Ursula M. Schick, Jennifer A. Brody, Jun Z. Li, Zhao Chen, Tanja Zeller, Jack M. Guralnik, Daniel I. Chasman, Luanne L. Peters, Michiaki Kubo, Diane M. Becker, Jin Li, Gudny Eiriksdottir, Jerome I. Rotter, Daniel Levy, Vera Grossmann, Kushang V. Patel, Chien-Hsiun Chen, The BioBank Japan Project, Paul M. Ridker, Hua Tang, Lenore J. Launer, Kenneth M. Rice, Ruifang Li-Gao, Luigi Ferrucci, Michelle K. Evans, Avik Choudhuri, Eirini Trompouki, Brian J. Abraham, Song Yang, Atsushi Takahashi, Yoichiro Kamatani, Charles Kooperberg, Tamara B. Harris, Sun Ha Jee, Josef Coresh, Fuu-Jen Tsai, Dan L. Longo, Yuan-Tsong Chen, Janine F. Felix, Qiong Yang, Bruce M. Psaty, Eric Boerwinkle, Lewis C. Becker, Dennis O. Mook-Kanamori, James G. Wilson, Vilmundur Gudnason, Christopher J. O'Donnell, Abbas Dehghan, L. Adrienne Cupples, Michael A. Nalls, Andrew P. Morris, Yukinori Okada, Alexander P. Reiner, Leonard I. Zon, Santhi K. Ganesh

Am J Hum Genet. 2017 Jan 5; 100(1): 51–63. Published online 2016 Dec 22. doi: 10.1016/j.ajhg.2016.11.016

PMCID:: PMC5223059

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A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis

F. David Carmona, Augusto Vaglio, Sarah L. Mackie, José Hernández-Rodríguez, Paul A. Monach, Santos Castañeda, Roser Solans, Inmaculada C. Morado, Javier Narváez, Marc Ramentol-Sintas, Colin T. Pease, Bhaskar Dasgupta, Richard Watts, Nader Khalidi, Carol A. Langford, Steven Ytterberg, Luigi Boiardi, Lorenzo Beretta, Marcello Govoni, Giacomo Emmi, Francesco Bonatti, Marco A. Cimmino, Torsten Witte, Thomas Neumann, Julia Holle, Verena Schönau, Laurent Sailler, Thomas Papo, Julien Haroche, Alfred Mahr, Luc Mouthon, Øyvind Molberg, Andreas P. Diamantopoulos, Alexandre Voskuyl, Elisabeth Brouwer, Thomas Daikeler, Christoph T. Berger, Eamonn S. Molloy, Lorraine O’Neill, Daniel Blockmans, Benedicte A. Lie, Paul Mclaren, Timothy J. Vyse, Cisca Wijmenga, Yannick Allanore, Bobby P.C. Koeleman, Spanish CGA Group, UKGCA Consortium, Vasculitis Clinical Research Consortium, Jennifer H. Barrett, María C. Cid, Carlo Salvarani, Peter A. Merkel, Ann W. Morgan, Miguel A. González-Gay, Javier Martín

Am J Hum Genet. 2017 Jan 5; 100(1): 64–74. Published online 2016 Dec 29. doi: 10.1016/j.ajhg.2016.11.013

PMCID:: PMC5223025

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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren J. Carss, Gavin Arno, Marie Erwood, Jonathan Stephens, Alba Sanchis-Juan, Sarah Hull, Karyn Megy, Detelina Grozeva, Eleanor Dewhurst, Samantha Malka, Vincent Plagnol, Christopher Penkett, Kathleen Stirrups, Roberta Rizzo, Genevieve Wright, Dragana Josifova, Maria Bitner-Glindzicz, Richard H. Scott, Emma Clement, Louise Allen, Ruth Armstrong, Angela F. Brady, Jenny Carmichael, Manali Chitre, Robert H.H. Henderson, Jane Hurst, Robert E. MacLaren, Elaine Murphy, Joan Paterson, Elisabeth Rosser, Dorothy A. Thompson, Emma Wakeling, Willem H. Ouwehand, Michel Michaelides, Anthony T. Moore, NIHR-BioResource Rare Diseases Consortium, Andrew R. Webster, F. Lucy Raymond

Am J Hum Genet. 2017 Jan 5; 100(1): 75–90. Published online 2016 Dec 29. doi: 10.1016/j.ajhg.2016.12.003

PMCID:: PMC5223092

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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

Kezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, Courtney Kiss, Anna Lehman, Jill A. Rosenfeld, Constance T.R. Stumpel, Alexander P.A. Stegmann, Laurie Robak, Fernando Scaglia, Thi Tuyet Mai Nguyen, He Fu, Norbert F. Ajeawung, Maria Vittoria Camurri, Lin Li, Alice Gardham, Bianca Panis, Mohammed Almannai, Maria J. Guillen Sacoto, Berivan Baskin, Claudia Ruivenkamp, Fan Xia, Weimin Bi, DDD Study, CAUSES Study, Megan T. Cho, Thomas P. Potjer, Gijs W.E. Santen, Michael J. Parker, Natalie Canham, Margaret McKinnon, Lorraine Potocki, Jennifer J. MacKenzie, Elizabeth R. Roeder, Philippe M. Campeau, Xiang-Jiao Yang

Am J Hum Genet. 2017 Jan 5; 100(1): 91–104. Published online 2016 Dec 8. doi: 10.1016/j.ajhg.2016.11.011

PMCID:: PMC5223032

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Reports

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

Francesca Mattioli, Elise Schaefer, Alex Magee, Paul Mark, Grazia M. Mancini, Klaus Dieterich, Gretchen Von Allmen, Marielle Alders, Charles Coutton, Marjon van Slegtenhorst, Gaëlle Vieville, Mark Engelen, Jan Maarten Cobben, Jane Juusola, Aurora Pujol, Jean-Louis Mandel, Amélie Piton

Am J Hum Genet. 2017 Jan 5; 100(1): 105–116. Published online 2016 Dec 8. doi: 10.1016/j.ajhg.2016.11.010

PMCID:: PMC5223023

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Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Frederike Leonie Harms, Katta M. Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark Tarnopolsky, Lynne M. Bird, Sophia Ceulemans, Martina Bebin, Kevin M. Bowling, Susan M. Hiatt, Edward J. Lose, Michelle Primiano, Wendy K. Chung, Jane Juusola, Zeynep C. Akdemir, Matthew Bainbridge, Wu-Lin Charng, Margaret Drummond-Borg, Mohammad K. Eldomery, Ayman W. El-Hattab, Mohammed A.M. Saleh, Stéphane Bézieau, Benjamin Cogné, Bertrand Isidor, Sébastien Küry, James R. Lupski, Richard M. Myers, Gregory M. Cooper, Kerstin Kutsche

Am J Hum Genet. 2017 Jan 5; 100(1): 117–127. Published online 2016 Dec 22. doi: 10.1016/j.ajhg.2016.11.012

PMCID:: PMC5223027

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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, John G. Pappas, Jill A. Rosenfeld, Alexandra J. McCarty, Taylor Davis, Lynne Wolfe, Camilo Toro, Cynthia Tifft, Fan Xia, Nicholas Stong, Travis K. Johnson, Coral G. Warr, Undiagnosed Diseases Network, Shinya Yamamoto, David R. Adams, Thomas C. Markello, William A. Gahl, Hugo J. Bellen, Michael F. Wangler, May Christine V. Malicdan

Am J Hum Genet. 2017 Jan 5; 100(1): 128–137. Published online 2016 Dec 22. doi: 10.1016/j.ajhg.2016.11.018

PMCID:: PMC5223093

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De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

Hannah Sleven, Seth J. Welsh, Jing Yu, Mair E.A. Churchill, Caroline F. Wright, Alex Henderson, Rita Horvath, Julia Rankin, Julie Vogt, Alex Magee, Vivienne McConnell, Andrew Green, Mary D. King, Helen Cox, Linlea Armstrong, Anna Lehman, Tanya N. Nelson, Deciphering Developmental Disorders study, CAUSES study, Jonathan Williams, Penny Clouston, James Hagman, Andrea H. Németh

Am J Hum Genet. 2017 Jan 5; 100(1): 138–150. Published online 2016 Dec 23. doi: 10.1016/j.ajhg.2016.11.020

PMCID:: PMC5223060

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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Samira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gusic, Annabelle Chaussenot, Sylvie Bannwarth, Bérengère François, Emmanuelle C. Genin, Konstantina Fragaki, Catharina L.M. Volker-Touw, Christelle Vasnier, Valérie Serre, Koen L.I. van Gassen, Françoise Lespinasse, Susan Richter, Graeme Eisenhofer, Cécile Rouzier, Fanny Mochel, Anne De Saint-Martin, Marie-Thérèse Abi Warde, Monique G.M. de Sain-van der Velde, Judith J.M. Jans, Jeanne Amiel, Ziga Avsec, Christian Mertes, Tobias B. Haack, Tim Strom, Thomas Meitinger, Penelope E. Bonnen, Robert W. Taylor, Julien Gagneur, Peter M. van Hasselt, Agnès Rötig, Agnès Delahodde, Holger Prokisch, Sabine A. Fuchs, Véronique Paquis-Flucklinger

Am J Hum Genet. 2017 Jan 5; 100(1): 151–159. Published online 2016 Dec 15. doi: 10.1016/j.ajhg.2016.11.014

PMCID:: PMC5223029

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Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Tamara Paff, Niki T. Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G. Haarman, Johannes M.A. Daniels, Erik A. Sistermans, Natalija Bogunovic, Gerard W. Dougherty, Inga M. Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha

Am J Hum Genet. 2017 Jan 5; 100(1): 160–168. Published online 2016 Dec 29. doi: 10.1016/j.ajhg.2016.11.019

PMCID:: PMC5223094

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Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy

Satoko Miyatake, Satomi Mitsuhashi, Yukiko K. Hayashi, Enkhsaikhan Purevjav, Atsuko Nishikawa, Eriko Koshimizu, Mikiya Suzuki, Kana Yatabe, Yuzo Tanaka, Katsuhisa Ogata, Satoshi Kuru, Masaaki Shiina, Yoshinori Tsurusaki, Mitsuko Nakashima, Takeshi Mizuguchi, Noriko Miyake, Hirotomo Saitsu, Kazuhiro Ogata, Mitsuru Kawai, Jeffrey Towbin, Ikuya Nonaka, Ichizo Nishino, Naomichi Matsumoto

Am J Hum Genet. 2017 Jan 5; 100(1): 169–178. Published online 2016 Dec 22. doi: 10.1016/j.ajhg.2016.11.017

PMCID:: PMC5223057

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Corrections

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Vandana Shashi, Loren D.M. Pena, Katherine Kim, Barbara Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, Heather M. McLaughlin, Megan Cho, Nicholas Stong, Scott E. Hickey, Christine M. Shuss, Undiagnosed Diseases Network, Michael S. Freemark, Jane S. Bellet, Martha Ann Keels, Melanie J. Bonner, Maysantoine El-Dairi, Megan Butler, Peter G. Kranz, Constance T.R.M. Stumpel, Sylvia Klinkenberg, Karin Oberndorff, Malik Alawi, Rene Santer, Slavé Petrovski, Outi Kuismin, Satu Korpi-Heikkilä, Olli Pietilainen, Palotie Aarno, Mitja I. Kurki, Alexander Hoischen, Anna C. Need, David B. Goldstein, Fanny Kortüm

Am J Hum Genet. 2017 Jan 5; 100(1): 179. Published online 2017 Jan 5. doi: 10.1016/j.ajhg.2016.12.004