Catherine T. Jordan, Li Cao, Elisha D.O. Roberson, Katherine C. Pierson, Chi-Fan Yang, Cailin E. Joyce, Caitriona Ryan, Shenghui Duan, Cynthia A. Helms, Yin Liu, Yongqing Chen, Alison A. McBride, Wuh-Liang Hwu, Jer-Yuarn Wu, Yuan-Tsong Chen, Alan Menter, Raphaela Goldbach-Mansky, Michelle A. Lowes, Anne M. Bowcock

Am J Hum Genet. 2012 May 4; 90(5): 784–795. doi: 10.1016/j.ajhg.2012.03.012

PMCID:: PMC3376640

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Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis

Catherine T. Jordan, Li Cao, Elisha D.O. Roberson, Shenghui Duan, Cynthia A. Helms, Rajan P. Nair, Kristina Callis Duffin, Philip E. Stuart, David Goldgar, Genki Hayashi, Emily H. Olfson, Bing-Jian Feng, Clive R. Pullinger, John P. Kane, Carol A. Wise, Raphaela Goldbach-Mansky, Michelle A. Lowes, Lynette Peddle, Vinod Chandran, Wilson Liao, Proton Rahman, Gerald G. Krueger, Dafna Gladman, James T. Elder, Alan Menter, Anne M. Bowcock

Am J Hum Genet. 2012 May 4; 90(5): 796–808. doi: 10.1016/j.ajhg.2012.03.013

PMCID:: PMC3376540

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Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids

Adam Ameur, Stefan Enroth, Åsa Johansson, Ghazal Zaboli, Wilmar Igl, Anna C.V. Johansson, Manuel A. Rivas, Mark J. Daly, Gerd Schmitz, Andrew A. Hicks, Thomas Meitinger, Lars Feuk, Cornelia van Duijn, Ben Oostra, Peter P. Pramstaller, Igor Rudan, Alan F. Wright, James F. Wilson, Harry Campbell, Ulf Gyllensten

Am J Hum Genet. 2012 May 4; 90(5): 809–820. doi: 10.1016/j.ajhg.2012.03.014

PMCID:: PMC3376635

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A Subset-Based Approach Improves Power and Interpretation for the Combined Analysis of Genetic Association Studies of Heterogeneous Traits

Samsiddhi Bhattacharjee, Preetha Rajaraman, Kevin B. Jacobs, William A. Wheeler, Beatrice S. Melin, Patricia Hartge, GliomaScan Consortium, Meredith Yeager, Charles C. Chung, Stephen J. Chanock, Nilanjan Chatterjee

Am J Hum Genet. 2012 May 4; 90(5): 821–835. doi: 10.1016/j.ajhg.2012.03.015

PMCID:: PMC3376551

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Nitric-Oxide Supplementation for Treatment of Long-Term Complications in Argininosuccinic Aciduria

Sandesh C.S. Nagamani, Philippe M. Campeau, Oleg A. Shchelochkov, Muralidhar H. Premkumar, Kilian Guse, Nicola Brunetti-Pierri, Yuqing Chen, Qin Sun, Yaoping Tang, Donna Palmer, Anilkumar K. Reddy, Li Li, Timothy C. Slesnick, Daniel I. Feig, Susan Caudle, David Harrison, Leonardo Salviati, Juan C. Marini, Nathan S. Bryan, Ayelet Erez, Brendan Lee

Am J Hum Genet. 2012 May 4; 90(5): 836–846. doi: 10.1016/j.ajhg.2012.03.018

PMCID:: PMC3376491

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Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

Lia Abbasi-Moheb, Sara Mertel, Melanie Gonsior, Leyla Nouri-Vahid, Kimia Kahrizi, Sebahattin Cirak, Dagmar Wieczorek, M. Mahdi Motazacker, Sahar Esmaeeli-Nieh, Kirsten Cremer, Robert Weißmann, Andreas Tzschach, Masoud Garshasbi, Seyedeh S. Abedini, Hossein Najmabadi, H. Hilger Ropers, Stephan J. Sigrist, Andreas W. Kuss

Am J Hum Genet. 2012 May 4; 90(5): 847–855. doi: 10.1016/j.ajhg.2012.03.021

PMCID:: PMC3376487

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Reports

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

Muzammil Ahmad Khan, Muhammad Arshad Rafiq, Abdul Noor, Shobbir Hussain, Joana V. Flores, Verena Rupp, Akshita K. Vincent, Roland Malli, Ghazanfar Ali, Falak Sher Khan, Gisele E. Ishak, Dan Doherty, Rosanna Weksberg, Muhammad Ayub, Christian Windpassinger, Shahnaz Ibrahim, Michaela Frye, Muhammad Ansar, John B. Vincent

Am J Hum Genet. 2012 May 4; 90(5): 856–863. doi: 10.1016/j.ajhg.2012.03.023

PMCID:: PMC3376419

Article PubReader PDF–807K Cite

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Isabelle Perrault, Sophie Saunier, Sylvain Hanein, Emilie Filhol, Albane A. Bizet, Felicity Collins, Mustafa A.M. Salih, Sylvie Gerber, Nathalie Delphin, Karine Bigot, Christophe Orssaud, Eduardo Silva, Véronique Baudouin, Machteld M. Oud, Nora Shannon, Martine Le Merrer, Olivier Roche, Christine Pietrement, Jamal Goumid, Clarisse Baumann, Christine Bole-Feysot, Patrick Nitschke, Mohammed Zahrate, Philip Beales, Heleen H. Arts, Arnold Munnich, Josseline Kaplan, Corinne Antignac, Valérie Cormier-Daire, Jean-Michel Rozet

Am J Hum Genet. 2012 May 4; 90(5): 864–870. doi: 10.1016/j.ajhg.2012.03.006

PMCID:: PMC3376548

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A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

Muhammad Sajid Hussain, Shahid Mahmood Baig, Sascha Neumann, Gudrun Nürnberg, Muhammad Farooq, Ilyas Ahmad, Thomas Alef, Hans Christian Hennies, Martin Technau, Janine Altmüller, Peter Frommolt, Holger Thiele, Angelika Anna Noegel, Peter Nürnberg

Am J Hum Genet. 2012 May 4; 90(5): 871–878. doi: 10.1016/j.ajhg.2012.03.016

PMCID:: PMC3376485

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SHANK1 Deletions in Males with Autism Spectrum Disorder

Daisuke Sato, Anath C. Lionel, Claire S. Leblond, Aparna Prasad, Dalila Pinto, Susan Walker, Irene O'Connor, Carolyn Russell, Irene E. Drmic, Fadi F. Hamdan, Jacques L. Michaud, Volker Endris, Ralph Roeth, Richard Delorme, Guillaume Huguet, Marion Leboyer, Maria Rastam, Christopher Gillberg, Mark Lathrop, Dimitri J. Stavropoulos, Evdokia Anagnostou, Rosanna Weksberg, Eric Fombonne, Lonnie Zwaigenbaum, Bridget A. Fernandez, Wendy Roberts, Gudrun A. Rappold, Christian R. Marshall, Thomas Bourgeron, Peter Szatmari, Stephen W. Scherer

Am J Hum Genet. 2012 May 4; 90(5): 879–887. doi: 10.1016/j.ajhg.2012.03.017

PMCID:: PMC3376495

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Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia

Michael Kirwan, Amanda J. Walne, Vincent Plagnol, Mark Velangi, Aloysius Ho, Upal Hossain, Tom Vulliamy, Inderjeet Dokal

Am J Hum Genet. 2012 May 4; 90(5): 888–892. doi: 10.1016/j.ajhg.2012.03.020

PMCID:: PMC3376490

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Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C

Hila Romi, Idan Cohen, Daniella Landau, Suliman Alkrinawi, Baruch Yerushalmi, Reli Hershkovitz, Nitza Newman-Heiman, Garry R. Cutting, Rivka Ofir, Sara Sivan, Ohad S. Birk

Am J Hum Genet. 2012 May 4; 90(5): 893–899. doi: 10.1016/j.ajhg.2012.03.022

PMCID:: PMC3376486

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A Genome-wide Association Study Reveals that Variants within the HLA Region Are Associated with Risk for Nonobstructive Azoospermia

Han Zhao, Jianfeng Xu, Haobo Zhang, Jielin Sun, Yingpu Sun, Zhong Wang, Jiayin Liu, Qiang Ding, Shaoming Lu, Rong Shi, Li You, Yingying Qin, Xiaoming Zhao, Xiaoling Lin, Xiao Li, Junjie Feng, Li Wang, Jeffrey M. Trent, Chengyan Xu, Ying Gao, Bo Zhang, Xuan Gao, Jingmei Hu, Hong Chen, Guangyu Li, Junzhao Zhao, Shuhua Zou, Hong Jiang, Cuifang Hao, Yueran Zhao, Jinglong Ma, S. Lilly Zheng, Zi-Jiang Chen

Am J Hum Genet. 2012 May 4; 90(5): 900–906. doi: 10.1016/j.ajhg.2012.04.001

PMCID:: PMC3376492

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A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome

Mark J. Rieder, Glenn E. Green, Sarah S. Park, Brendan D. Stamper, Christopher T. Gordon, Jason M. Johnson, Christopher M. Cunniff, Joshua D. Smith, Sarah B. Emery, Stanislas Lyonnet, Jeanne Amiel, Muriel Holder, Andrew A. Heggie, Michael J. Bamshad, Deborah A. Nickerson, Timothy C. Cox, Anne V. Hing, Jeremy A. Horst, Michael L. Cunningham

Am J Hum Genet. 2012 May 4; 90(5): 907–914. doi: 10.1016/j.ajhg.2012.04.002

Correction in:: Am J Hum Genet. 2012 Jun 8; 90(6): 1116.

Correction in:: Am J Hum Genet. 2012 Aug 10; 91(2): 397.

PMCID:: PMC3376493

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Mitochondrial DNA Signals of Late Glacial Recolonization of Europe from Near Eastern Refugia

Maria Pala, Anna Olivieri, Alessandro Achilli, Matteo Accetturo, Ene Metspalu, Maere Reidla, Erika Tamm, Monika Karmin, Tuuli Reisberg, Baharak Hooshiar Kashani, Ugo A. Perego, Valeria Carossa, Francesca Gandini, Joana B. Pereira, Pedro Soares, Norman Angerhofer, Sergei Rychkov, Nadia Al-Zahery, Valerio Carelli, Mohammad Hossein Sanati, Massoud Houshmand, Jiři Hatina, Vincent Macaulay, Luísa Pereira, Scott R. Woodward, William Davies, Clive Gamble, Douglas Baird, Ornella Semino, Richard Villems, Antonio Torroni, Martin B. Richards

Am J Hum Genet. 2012 May 4; 90(5): 915–924. doi: 10.1016/j.ajhg.2012.04.003

PMCID:: PMC3376494

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Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

Francois P. Bernier, Oana Caluseriu, Sarah Ng, Jeremy Schwartzentruber, Kati J. Buckingham, A. Micheil Innes, Ethylin Wang Jabs, Jeffrey W. Innis, Jane L. Schuette, Jerome L. Gorski, Peter H. Byers, Gregor Andelfinger, Victoria Siu, Julie Lauzon, Bridget A. Fernandez, Margaret McMillin, Richard H. Scott, Hilary Racher, FORGE Canada Consortium, Jacek Majewski, Deborah A. Nickerson, Jay Shendure, Michael J. Bamshad, Jillian S. Parboosingh

Am J Hum Genet. 2012 May 4; 90(5): 925–933. doi: 10.1016/j.ajhg.2012.04.004

PMCID:: PMC3376638

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Letters to the Editor

Documenting the Corneal Phenotype Associated with the MIR184 c.57C>T Mutation

Benjamin W. Iliff, S. Amer Riazuddin, John D. Gottsch

Am J Hum Genet. 2012 May 4; 90(5): 934. doi: 10.1016/j.ajhg.2012.01.019

PMCID:: PMC3376499

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Response to Iliff et al.

Anne E. Hughes, Declan T. Bradley, Malcolm Campbell, David A. Simpson, Colin E. Willoughby

Am J Hum Genet. 2012 May 4; 90(5): 934–935. doi: 10.1016/j.ajhg.2012.03.024

PMCID:: PMC3376544

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Addenda

The Basque Paradigm: Genetic Evidence of a Maternal Continuity in the Franco-Cantabrian Region since Pre-Neolithic Times

Doron M. Behar, Christine Harmant, Jeremy Manry, Mannis van Oven, Wolfgang Haak, Begoña Martinez-Cruz, Jasone Salaberria, Bernard Oyharçabal, Frédéric Bauduer, David Comas, Lluis Quintana-Murci, The Genographic Consortium

Am J Hum Genet. 2012 May 4; 90(5): 936. doi: 10.1016/j.ajhg.2012.04.006