Volume 103(1); 2018 Jul 5

Articles

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

James Whitworth, Philip S. Smith, Jose-Ezequiel Martin, Hannah West, Andrea Luchetti, Faye Rodger, Graeme Clark, Keren Carss, Jonathan Stephens, Kathleen Stirrups, Chris Penkett, Rutendo Mapeta, Sofie Ashford, Karyn Megy, Hassan Shakeel, Munaza Ahmed, Julian Adlard, Julian Barwell, Carole Brewer, Ruth T. Casey, Ruth Armstrong, Trevor Cole, Dafydd Gareth Evans, Florentia Fostira, Lynn Greenhalgh, Helen Hanson, Alex Henderson, Jonathan Hoffman, Louise Izatt, Ajith Kumar, Ava Kwong, Fiona Lalloo, Kai Ren Ong, Joan Paterson, Soo-Mi Park, Rakefet Chen-Shtoyerman, Claire Searle, Lucy Side, Anne-Bine Skytte, Katie Snape, Emma R. Woodward, NIHR BioResource Rare Diseases Consortium, Marc D. Tischkowitz, Eamonn R. Maher

Am J Hum Genet. 2018 Jul 5; 103(1): 3–18. Published online 2018 Jun 14. doi: 10.1016/j.ajhg.2018.04.013

PMCID:: PMC6037202

Abstract Article PDF–1.2M

Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes

Brian H. Shirts, Eric Q. Konnick, Sarah Upham, Tom Walsh, John Michael O. Ranola, Angela L. Jacobson, Mary-Claire King, Rachel Pearlman, Heather Hampel, Colin C. Pritchard

Am J Hum Genet. 2018 Jul 5; 103(1): 19–29. Published online 2018 Jun 7. doi: 10.1016/j.ajhg.2018.05.001

PMCID:: PMC6035155

Abstract Article PDF–942K

Inferring Identical-by-Descent Sharing of Sample Ancestors Promotes High-Resolution Relative Detection

Monica D. Ramstetter, Sushila A. Shenoy, Thomas D. Dyer, Donna M. Lehman, Joanne E. Curran, Ravindranath Duggirala, John Blangero, Jason G. Mezey, Amy L. Williams

Am J Hum Genet. 2018 Jul 5; 103(1): 30–44. Published online 2018 Jun 21. doi: 10.1016/j.ajhg.2018.05.008

PMCID:: PMC6035284

Abstract Article PDF–759K

Natural Selection Has Differentiated the Progesterone Receptor among Human Populations

Jingjing Li, Xiumei Hong, Sam Mesiano, Louis J. Muglia, Xiaobin Wang, Michael Snyder, David K. Stevenson, Gary M. Shaw

Am J Hum Genet. 2018 Jul 5; 103(1): 45–57. Published online 2018 Jun 21. doi: 10.1016/j.ajhg.2018.05.009

PMCID:: PMC6035283

Abstract Article PDF–2.0M

Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes

Jung Hoon Son, Gangcai Xie, Chi Yuan, Lyudmila Ena, Ziran Li, Andrew Goldstein, Lulin Huang, Liwei Wang, Feichen Shen, Hongfang Liu, Karla Mehl, Emily E. Groopman, Maddalena Marasa, Krzysztof Kiryluk, Ali G. Gharavi, Wendy K. Chung, George Hripcsak, Carol Friedman, Chunhua Weng, Kai Wang

Am J Hum Genet. 2018 Jul 5; 103(1): 58–73. Published online 2018 Jun 28. doi: 10.1016/j.ajhg.2018.05.010

PMCID:: PMC6035281

Abstract Article PDF–3.0M

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

Mieke Wesdorp, Silvia Murillo-Cuesta, Theo Peters, Adelaida M. Celaya, Anne Oonk, Margit Schraders, Jaap Oostrik, Elena Gomez-Rosas, Andy J. Beynon, Bas P. Hartel, Kees Okkersen, Hans J.P.M. Koenen, Jack Weeda, Stefan Lelieveld, Nicol C. Voermans, Irma Joosten, Carel B. Hoyng, Peter Lichtner, Henricus P.M. Kunst, Ilse Feenstra, Suzanne E. de Bruijn, DOOFNL Consortium, Ronald J.C. Admiraal, Helger G. Yntema, Erwin van Wijk, Ignacio del Castillo, Pau Serra, Isabel Varela-Nieto, Ronald J.E. Pennings, Hannie Kremer

Am J Hum Genet. 2018 Jul 5; 103(1): 74–88. Published online 2018 Jun 28. doi: 10.1016/j.ajhg.2018.05.011

PMCID:: PMC6037131

Abstract Article PDF–2.5M

Estimating SNP-Based Heritability and Genetic Correlation in Case-Control Studies Directly and with Summary Statistics

Omer Weissbrod, Jonathan Flint, Saharon Rosset

Am J Hum Genet. 2018 Jul 5; 103(1): 89–99. Published online 2018 Jul 5. doi: 10.1016/j.ajhg.2018.06.002

PMCID:: PMC6035374

Abstract Article PDF–364K

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

Zhiwen Xu, Wing-Sze Lo, David B. Beck, Luise A. Schuch, Monika Oláhová, Robert Kopajtich, Yeeting E. Chong, Charlotte L. Alston, Elias Seidl, Liting Zhai, Ching-Fun Lau, Donna Timchak, Charles A. LeDuc, Alain C. Borczuk, Andrew F. Teich, Jane Juusola, Christina Sofeso, Christoph Müller, Germaine Pierre, Tom Hilliard, Peter D. Turnpenny, Matias Wagner, Matthias Kappler, Frank Brasch, John Paul Bouffard, Leslie A. Nangle, Xiang-Lei Yang, Mingjie Zhang, Robert W. Taylor, Holger Prokisch, Matthias Griese, Wendy K. Chung, Paul Schimmel

Am J Hum Genet. 2018 Jul 5; 103(1): 100–114. Published online 2018 Jul 5. doi: 10.1016/j.ajhg.2018.06.006

PMCID:: PMC6035289

Abstract Article PDF–2.9M

Reports

Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies

Silvio Alessandro Di Gioia, Sherin Shaaban, Beyhan Tüysüz, Nursel H. Elcioglu, Wai-Man Chan, Caroline D. Robson, Kirsten Ecklund, Nicole M. Gilette, Azmi Hamzaoglu, Gulsen Akay Tayfun, Elias I. Traboulsi, Elizabeth C. Engle

Am J Hum Genet. 2018 Jul 5; 103(1): 115–124. Published online 2018 Jun 7. doi: 10.1016/j.ajhg.2018.05.003

PMCID:: PMC6035164

Abstract Article PDF–2.0M

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis

David Coman, Lisenka E.L.M. Vissers, Lisa G. Riley, Michael P. Kwint, Roxanna Hauck, Janet Koster, Sinje Geuer, Sarah Hopkins, Barbra Hallinan, Larry Sweetman, Udo F.H. Engelke, T. Andrew Burrow, John Cardinal, James McGill, Anita Inwood, Christine Gurnsey, Hans R. Waterham, John Christodoulou, Ron A. Wevers, James Pitt

Am J Hum Genet. 2018 Jul 5; 103(1): 125–130. Published online 2018 Jun 14. doi: 10.1016/j.ajhg.2018.05.004

PMCID:: PMC6037199

Abstract Article PDF–862K

Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations

Amy E. O’Connell, Fanny Zhou, Manasvi S. Shah, Quinn Murphy, Hannah Rickner, Judith Kelsen, John Boyle, Jefferson J. Doyle, Bharti Gangwani, Jay R. Thiagarajah, Daniel S. Kamin, Jeffrey D. Goldsmith, Camilla Richmond, David T. Breault, Pankaj B. Agrawal

Am J Hum Genet. 2018 Jul 5; 103(1): 131–137. Published online 2018 Jun 14. doi: 10.1016/j.ajhg.2018.05.007

PMCID:: PMC6035368

Abstract Article PDF–2.1M

Variants of Unknown Significance in Genes Associated with Heritable Thoracic Aortic Disease Can Be Low Penetrant “Risk Variants”

Callie S. Kwartler, Limin Gong, Jiyuan Chen, Shanzhi Wang, Richard Kulmacz, Xue-yan Duan, Alexandra Janda, Jian Huang, Kristine E. Kamm, James T. Stull, Dongchuan Guo, Dianna M. Milewicz

Am J Hum Genet. 2018 Jul 5; 103(1): 138–143. Published online 2018 Jun 28. doi: 10.1016/j.ajhg.2018.05.012

PMCID:: PMC6035370

Abstract Article PDF–1.1M

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Yoko Ito, Keren J. Carss, Sofia T. Duarte, Taila Hartley, Boris Keren, Manju A. Kurian, Isabelle Marey, Perinne Charles, Carla Mendonça, Caroline Nava, Rolph Pfundt, Alba Sanchis-Juan, Hans van Bokhoven, Anthony van Essen, Conny van Ravenswaaij-Arts, NIHR BioResource, Care4Rare Canada Consortium, Kym M. Boycott, Kristin D. Kernohan, Sarah Dyack, F. Lucy Raymond

Am J Hum Genet. 2018 Jul 5; 103(1): 144–153. Published online 2018 Jun 28. doi: 10.1016/j.ajhg.2018.06.001

PMCID:: PMC6037130

Abstract Article PDF–1.1M

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

Mari J. Tokita, Chun-An Chen, David Chitayat, Ellen Macnamara, Jill A. Rosenfeld, Neil Hanchard, Andrea M. Lewis, Chester W. Brown, Ronit Marom, Yunru Shao, Danica Novacic, Lynne Wolfe, Colleen Wahl, Cynthia J. Tifft, Camilo Toro, Jonathan A. Bernstein, Caitlin L. Hale, Julia Silver, Louanne Hudgins, Amitha Ananth, Andrea Hanson-Kahn, Shirley Shuster, Undiagnosed Diseases Network, Pilar L. Magoulas, Vipulkumar N. Patel, Wenmiao Zhu, Stella M. Chen, Yanjun Jiang, Pengfei Liu, Christine M. Eng, Dominyka Batkovskyte, Alberto di Ronza, Marco Sardiello, Brendan H. Lee, Christian P. Schaaf, Yaping Yang, Xia Wang

Am J Hum Genet. 2018 Jul 5; 103(1): 154–162. Published online 2018 Jun 28. doi: 10.1016/j.ajhg.2018.06.005