Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease by Fadi I. Musfee, Dongchuan Guo, Amélie C. Pinard, Ellen M. Hostetler, Elizabeth E. Blue, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics (UW‐CMG), Michael J. Bamshad, Dianna M. Milewicz, Siddharth K. Prakash

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Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1 by Tassos Grammatikopoulos, Nedim Hadzic, Pierre Foskett, Sandra Strautnieks, Marianne Samyn, Roshni Vara, Anil Dhawan, Jozef Hertecant, Fatma Al Jasmi, Obydur Rahman, University of Washington Center for Mendelian Genomics, Maesha Deheragoda, Laura N. Bull, Richard J Thompson

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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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Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome by Jonai Pujol‐Giménez, Ghayda Mirzaa, Elizabeth E. Blue, Giuseppe Albano, Danny E. Miller, Aimee Allworth, James T. Bennett, Peter H. Byers, Sirisak Chanprasert, Jingheng Chen, Daniel Doherty, Andrew B. Folta, Madelyn A. Gillentine, Ian Glass, Anne Hing, Martha Horike‐Pyne, Kathleen A. Leppig, Azma Parhin, Jane Ranchalis, Wendy H. Raskind, Elisabeth A. Rosenthal, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, Virginia P. Sybert, Andrew Timms, Mark Wener, University of Washington Center for Mendelian Genomics (UW‐CMG)a, Undiagnosed Diseases Network (UDN), Michael J. Bamshad, Fuki M. Hisama, Gail P. Jarvik, Katrina M. Dipple, Matthias A. Hediger, Andrew B. Stergachis

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