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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
Published 2025-07-01Get full text
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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
Published 2025-03-01Get full text
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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
Published 2024-12-01Get full text
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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships by Eleanor C. Broeren, Vanessa N. Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie B. Balzotti, Jonathan S. Berg, Krista Bluske, B. Monica Bowen, Matthew P. Brown, Amanda Buchanan, Brendan T. Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda R. Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa A. Elnagheeb, Amanda N. Girod, Himanshu Goel, Katie L. Golden-Grant, Thuong Ha, Ada Hamosh, Jennifer M. Huang, Madeline Y. Hughes, Saumya S. Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, Sarah E. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah R. McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma H. Owens, Elizabeth E. Palmer, Brooke C. Palus, Mayher J. Patel, Revathi Rajkumar, Julie C. Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah A. Schmidt, Zornitza Stark, Samuel P. Strom, Julie P. Taylor, Courtney Thaxton, Devon L. Thrush, Sabrina Toro, Kezang C. Tshering, Nicole A. Vasilevsky, Bess Wayburn, Ryan F. Webb, Anne O’Donnell-Luria, Alison J. Coffey
Published 2025-01-01Get full text
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