Jeffrey R. Botkin, John W. Belmont, Jonathan S. Berg, Benjamin E. Berkman, Yvonne Bombard, Ingrid A. Holm, Howard P. Levy, Kelly E. Ormond, Howard M. Saal, Nancy B. Spinner, Benjamin S. Wilfond, Joseph D. McInerney

Am J Hum Genet. 2015 Jul 2; 97(1): 6–21. doi: 10.1016/j.ajhg.2015.05.022

Correction in:: Am J Hum Genet. 2015 Sep 3; 97(3): 501.

PMCID:: PMC4570999

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Articles

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

Hatef Darabi, Karen McCue, Jonathan Beesley, Kyriaki Michailidou, Silje Nord, Siddhartha Kar, Keith Humphreys, Deborah Thompson, Maya Ghoussaini, Manjeet K. Bolla, Joe Dennis, Qin Wang, Sander Canisius, Christopher G. Scott, Carmel Apicella, John L. Hopper, Melissa C. Southey, Jennifer Stone, Annegien Broeks, Marjanka K. Schmidt, Rodney J. Scott, Artitaya Lophatananon, Kenneth Muir, Matthias W. Beckmann, Arif B. Ekici, Peter A. Fasching, Katharina Heusinger, Isabel dos-Santos-Silva, Julian Peto, Ian Tomlinson, Elinor J. Sawyer, Barbara Burwinkel, Frederik Marme, Pascal Guénel, Thérèse Truong, Stig E. Bojesen, Henrik Flyger, Javier Benitez, Anna González-Neira, Hoda Anton-Culver, Susan L. Neuhausen, Volker Arndt, Hermann Brenner, Christoph Engel, Alfons Meindl, Rita K. Schmutzler, German Consortium of Hereditary Breast and Ovarian Cancer, Norbert Arnold, Hiltrud Brauch, Ute Hamann, Jenny Chang-Claude, Sofia Khan, Heli Nevanlinna, Hidemi Ito, Keitaro Matsuo, Natalia V. Bogdanova, Thilo Dörk, Annika Lindblom, Sara Margolin, kConFab/AOCS Investigators, Veli-Matti Kosma, Arto Mannermaa, Chiu-chen Tseng, Anna H. Wu, Giuseppe Floris, Diether Lambrechts, Anja Rudolph, Paolo Peterlongo, Paolo Radice, Fergus J. Couch, Celine Vachon, Graham G. Giles, Catriona McLean, Roger L. Milne, Pierre-Antoine Dugué, Christopher A. Haiman, Gertraud Maskarinec, Christy Woolcott, Brian E. Henderson, Mark S. Goldberg, Jacques Simard, Soo H. Teo, Shivaani Mariapun, Åslaug Helland, Vilde Haakensen, Wei Zheng, Alicia Beeghly-Fadiel, Rulla Tamimi, Arja Jukkola-Vuorinen, Robert Winqvist, Irene L. Andrulis, Julia A. Knight, Peter Devilee, Robert A.E.M. Tollenaar, Jonine Figueroa, Montserrat García-Closas, Kamila Czene, Maartje J. Hooning, Madeleine Tilanus-Linthorst, Jingmei Li, Yu-Tang Gao, Xiao-Ou Shu, Angela Cox, Simon S. Cross, Robert Luben, Kay-Tee Khaw, Ji-Yeob Choi, Daehee Kang, Mikael Hartman, Wei Yen Lim, Maria Kabisch, Diana Torres, Anna Jakubowska, Jan Lubinski, James McKay, Suleeporn Sangrajrang, Amanda E. Toland, Drakoulis Yannoukakos, Chen-Yang Shen, Jyh-Cherng Yu, Argyrios Ziogas, Minouk J. Schoemaker, Anthony Swerdlow, Anne-Lise Borresen-Dale, Vessela Kristensen, Juliet D. French, Stacey L. Edwards, Alison M. Dunning, Douglas F. Easton, Per Hall, Georgia Chenevix-Trench

Am J Hum Genet. 2015 Jul 2; 97(1): 22–34. doi: 10.1016/j.ajhg.2015.05.002

PMCID:: PMC4572510

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Meta-analysis for Discovering Rare-Variant Associations: Statistical Methods and Software Programs

Zheng-Zheng Tang, Dan-Yu Lin

Am J Hum Genet. 2015 Jul 2; 97(1): 35–53. doi: 10.1016/j.ajhg.2015.05.001

PMCID:: PMC4571037

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A 3.4-kb Copy-Number Deletion near EPAS1 Is Significantly Enriched in High-Altitude Tibetans but Absent from the Denisovan Sequence

Haiyi Lou, Yan Lu, Dongsheng Lu, Ruiqing Fu, Xiaoji Wang, Qidi Feng, Sijie Wu, Yajun Yang, Shilin Li, Longli Kang, Yaqun Guan, Boon-Peng Hoh, Yeun-Jun Chung, Li Jin, Bing Su, Shuhua Xu

Am J Hum Genet. 2015 Jul 2; 97(1): 54–66. doi: 10.1016/j.ajhg.2015.05.005

PMCID:: PMC4572470

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Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

Rocio Acuna-Hidalgo, Tan Bo, Michael P. Kwint, Maartje van de Vorst, Michele Pinelli, Joris A. Veltman, Alexander Hoischen, Lisenka E.L.M. Vissers, Christian Gilissen

Am J Hum Genet. 2015 Jul 2; 97(1): 67–74. doi: 10.1016/j.ajhg.2015.05.008

PMCID:: PMC4571017

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Improving Phenotypic Prediction by Combining Genetic and Epigenetic Associations

Sonia Shah, Marc J. Bonder, Riccardo E. Marioni, Zhihong Zhu, Allan F. McRae, Alexandra Zhernakova, Sarah E. Harris, Dave Liewald, Anjali K. Henders, Michael M. Mendelson, Chunyu Liu, Roby Joehanes, Liming Liang, BIOS Consortium, Daniel Levy, Nicholas G. Martin, John M. Starr, Cisca Wijmenga, Naomi R. Wray, Jian Yang, Grant W. Montgomery, Lude Franke, Ian J. Deary, Peter M. Visscher

Am J Hum Genet. 2015 Jul 2; 97(1): 75–85. doi: 10.1016/j.ajhg.2015.05.014

PMCID:: PMC4572498

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A Powerful Pathway-Based Adaptive Test for Genetic Association with Common or Rare Variants

Wei Pan, Il-Youp Kwak, Peng Wei

Am J Hum Genet. 2015 Jul 2; 97(1): 86–98. doi: 10.1016/j.ajhg.2015.05.018

PMCID:: PMC4572508

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Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Shannon Marchegiani, Taylor Davis, Federico Tessadori, Gijs van Haaften, Francesco Brancati, Alexander Hoischen, Haigen Huang, Elise Valkanas, Barbara Pusey, Denny Schanze, Hanka Venselaar, Anneke T. Vulto-van Silfhout, Lynne A. Wolfe, Cynthia J. Tifft, Patricia M. Zerfas, Giovanna Zambruno, Ariana Kariminejad, Farahnaz Sabbagh-Kermani, Janice Lee, Maria G. Tsokos, Chyi-Chia R. Lee, Victor Ferraz, Eduarda Morgana da Silva, Cathy A. Stevens, Nathalie Roche, Oliver Bartsch, Peter Farndon, Eva Bermejo-Sanchez, Brian P. Brooks, Valerie Maduro, Bruno Dallapiccola, Feliciano J. Ramos, Hon-Yin Brian Chung, Cédric Le Caignec, Fabiana Martins, Witold K. Jacyk, Laura Mazzanti, Han G. Brunner, Jeroen Bakkers, Shuo Lin, May Christine V. Malicdan, Cornelius F. Boerkoel, William A. Gahl, Bert B.A. de Vries, Mieke M. van Haelst, Martin Zenker, Thomas C. Markello

Am J Hum Genet. 2015 Jul 2; 97(1): 99–110. doi: 10.1016/j.ajhg.2015.05.017

PMCID:: PMC4572501

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The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

Tudor Groza, Sebastian Köhler, Dawid Moldenhauer, Nicole Vasilevsky, Gareth Baynam, Tomasz Zemojtel, Lynn Marie Schriml, Warren Alden Kibbe, Paul N. Schofield, Tim Beck, Drashtti Vasant, Anthony J. Brookes, Andreas Zankl, Nicole L. Washington, Christopher J. Mungall, Suzanna E. Lewis, Melissa A. Haendel, Helen Parkinson, Peter N. Robinson

Am J Hum Genet. 2015 Jul 2; 97(1): 111–124. doi: 10.1016/j.ajhg.2015.05.020

PMCID:: PMC4572507

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A Joint Location-Scale Test Improves Power to Detect Associated SNPs, Gene Sets, and Pathways

David Soave, Harriet Corvol, Naim Panjwani, Jiafen Gong, Weili Li, Pierre-Yves Boëlle, Peter R. Durie, Andrew D. Paterson, Johanna M. Rommens, Lisa J. Strug, Lei Sun

Am J Hum Genet. 2015 Jul 2; 97(1): 125–138. doi: 10.1016/j.ajhg.2015.05.015

PMCID:: PMC4572492

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Disentangling the Effects of Colocalizing Genomic Annotations to Functionally Prioritize Non-coding Variants within Complex-Trait Loci

Gosia Trynka, Harm-Jan Westra, Kamil Slowikowski, Xinli Hu, Han Xu, Barbara E. Stranger, Robert J. Klein, Buhm Han, Soumya Raychaudhuri

Am J Hum Genet. 2015 Jul 2; 97(1): 139–152. doi: 10.1016/j.ajhg.2015.05.016

PMCID:: PMC4572568

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Reports

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes

Ludovic Jeanson, Bruno Copin, Jean-François Papon, Florence Dastot-Le Moal, Philippe Duquesnoy, Guy Montantin, Jacques Cadranel, Harriet Corvol, André Coste, Julie Désir, Anissa Souayah, Esther Kott, Nathalie Collot, Sylvie Tissier, Bruno Louis, Aline Tamalet, Jacques de Blic, Annick Clement, Estelle Escudier, Serge Amselem, Marie Legendre

Am J Hum Genet. 2015 Jul 2; 97(1): 153–162. doi: 10.1016/j.ajhg.2015.05.004

PMCID:: PMC4571005

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Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Tobias B. Haack, Christian Staufner, Marlies G. Köpke, Beate K. Straub, Stefan Kölker, Christian Thiel, Peter Freisinger, Ivo Baric, Patrick J. McKiernan, Nicola Dikow, Inga Harting, Flemming Beisse, Peter Burgard, Urania Kotzaeridou, Joachim Kühr, Urban Himbert, Robert W. Taylor, Felix Distelmaier, Jerry Vockley, Lina Ghaloul-Gonzalez, Johannes Zschocke, Laura S. Kremer, Elisabeth Graf, Thomas Schwarzmayr, Daniel M. Bader, Julien Gagneur, Thomas Wieland, Caterina Terrile, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch

Am J Hum Genet. 2015 Jul 2; 97(1): 163–169. doi: 10.1016/j.ajhg.2015.05.009

PMCID:: PMC4572578

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Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

Harrison Brand, Ryan L. Collins, Carrie Hanscom, Jill A. Rosenfeld, Vamsee Pillalamarri, Matthew R. Stone, Fontina Kelley, Tamara Mason, Lauren Margolin, Stacey Eggert, Elyse Mitchell, Jennelle C. Hodge, James F. Gusella, Stephan J. Sanders, Michael E. Talkowski

Am J Hum Genet. 2015 Jul 2; 97(1): 170–176. doi: 10.1016/j.ajhg.2015.05.012

PMCID:: PMC4571023

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Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

Sabrina Prudente, Prapaporn Jungtrakoon, Antonella Marucci, Ornella Ludovico, Patinut Buranasupkajorn, Tommaso Mazza, Timothy Hastings, Teresa Milano, Eleonora Morini, Luana Mercuri, Diego Bailetti, Christine Mendonca, Federica Alberico, Giorgio Basile, Marta Romani, Elide Miccinilli, Antonio Pizzuti, Massimo Carella, Fabrizio Barbetti, Stefano Pascarella, Piero Marchetti, Vincenzo Trischitta, Rosa Di Paola, Alessandro Doria

Am J Hum Genet. 2015 Jul 2; 97(1): 177–185. doi: 10.1016/j.ajhg.2015.05.011

PMCID:: PMC4571002

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RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

Aurelio Reyes, Laura Melchionda, Alessia Nasca, Franco Carrara, Eleonora Lamantea, Alice Zanolini, Costanza Lamperti, Mingyan Fang, Jianguo Zhang, Dario Ronchi, Sara Bonato, Gigliola Fagiolari, Maurizio Moggio, Daniele Ghezzi, Massimo Zeviani

Am J Hum Genet. 2015 Jul 2; 97(1): 186–193. doi: 10.1016/j.ajhg.2015.05.013

PMCID:: PMC4572567

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