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Volume 103(1);  2018 Jul 5

Articles from this journal are generally available in PMC after a 6-month delay (embargo); however, the delay may vary at the discretion of the publisher.

Articles

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
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
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
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
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
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
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
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

Reports

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
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
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
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
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
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
PMCID:
PMC6035372

Letters to the Editor

Jennifer C. Dreyfus, Mark E. Sobel
Am J Hum Genet. 2018 Jul 5; 103(1): 163–165. Published online 2018 Jul 5. doi: 10.1016/j.ajhg.2018.06.003
PMCID:
PMC6035371
Barbara J. Evans
Am J Hum Genet. 2018 Jul 5; 103(1): 166–168. Published online 2018 Jul 5. doi: 10.1016/j.ajhg.2018.06.004
PMCID:
PMC6035288

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics