The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans by Minna Ampuja, Sabina Ericsson, Ilkka Paatero, Iftekhar Chowdhury, Jenna Villman, Martin Broberg, Amanda Ramste, Diego Balboa, Tiina Ojala, Jessica X. Chong, Michael J. Bamshad, James R. Priest, Markku Varjosalo, Riikka Kivelä, Emmi Helle

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Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing by David R. Murdock, Dong-chuan Guo, John S. DePaolo, Ulrike Schwarze, Xue-yan Duan, Alana C. Cecchi, Isabella C. Marin, YingYing Tang, Jessica X. Chong, Michael J. Bamshad, Kathleen A. Leppig, Peter H. Byers, Scott M. Damrauer, Dianna M. Milewicz

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Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling by Michaela Bosakova, Sara P Abraham, Alexandru Nita, Eva Hruba, Marcela Buchtova, S Paige Taylor, Ivan Duran, Jorge Martin, Katerina Svozilova, Tomas Barta, Miroslav Varecha, Lukas Balek, Jiri Kohoutek, Tomasz Radaszkiewicz, Ganesh V Pusapati, Vitezslav Bryja, Eric T Rush, Isabelle Thiffault, Deborah A Nickerson, Michael J Bamshad, University of Washington Center for Mendelian Genomics, Rajat Rohatgi, Daniel H Cohn, Deborah Krakow, Pavel Krejci

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CFAP47 is Implicated in X-Linked Polycystic Kidney Disease by Takayasu Mori, Takuya Fujimaru, Chunyu Liu, Karynne Patterson, Kouhei Yamamoto, Takefumi Suzuki, Motoko Chiga, Akinari Sekine, Yoshifumi Ubara, Danny E. Miller, Miranda P.G. Zalusky, Shintaro Mandai, Fumiaki Ando, Yutaro Mori, Hiroaki Kikuchi, Koichiro Susa, Jessica X. Chong, Michael J. Bamshad, Yue-Qiu Tan, Feng Zhang, Shinichi Uchida, Eisei Sohara, Chia-Lin Wei, Michael J. Bamshad, Evan E. Eichler, Kailyn Anderson, Peter Anderson, Tamara J. Bacus, Sabrina Best, Elizabeth E. Blue, Katherine Brower, Kati J. Buckingham, Brianne Carroll, Silvia Casadei, Jessica X. Chong, Nikhita Damaraju, Colleen P. Davis, Christian D. Frazar, Sophia Gibson, Joy Goffena, William W. Gordon, Jonas A. Gustafson, William T. Harvey, Martha Horike-Pyne, Jameson R. Hurless, Caitlin Jacques, Gail P. Jarvik, Eric Johanson, J. Thomas Kolar, Xiaomeng Liu, Colby T. Marvin, Sean McGee, Holli Meyers, Danny E. Miller, Patrick M. Nielsen, Karynne Patterson, Aparna Radhakrishnan, Matthew A. Richardson, Erica L. Ryke, Aliya Sarkytbayeva, Tristan Shaffer, Kathryn M. Shively, Olivia M. Sommers, Sophie H.R. Storz, Joshua D. Smith, Lea M. Starita, Monica Tackettl, Sydney A. Ward, Jeffrey M. Weiss, Qian Yi, Miranda P.G. Zalusky, Michael J. Bamshad, Danny E. Miller, Evan E. Eichler, Heather Mefford

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Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts by Elizabeth E. Blue, Samuel J. Huang, Alyna Khan, Katie Golden-Grant, Brenna Boyd, Elisabeth A. Rosenthal, Madelyn A. Gillentine, Leah R. Fleming, David R. Adams, Lynne Wolfe, Aimee Allworth, Michael J. Bamshad, Nikeisha J. Caruana, Sirisak Chanprasert, Jingheng Chen, Nitsuh Dargie, Daniel Doherty, Marisa W. Friederich, Fuki M. Hisama, Martha Horike-Pyne, Jessica C. Lee, Tonia E. Donovan, Daniella H. Hock, Kathleen A. Leppig, Danny E. Miller, Ghayda Mirzaa, Jane Ranchalis, Wendy H. Raskind, Cole R. Michel, Richard Reisdorph, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, David A. Stroud, Virginia P. Sybert, Mark H. Wener, Andrew B. Stergachis, Christina T. Lam, Gail P. Jarvik, Katrina M. Dipple, Johan L.K. Van Hove, Ian A. Glass

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