Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway by Enns, Gregory M, Shashi, Vandana, Bainbridge, Matthew, Gambello, Michael J, Zahir, Farah R, Bast, Thomas, Crimian, Rebecca, Schoch, Kelly, Platt, Julia, Cox, Rachel, Bernstein, Jonathan A, Scavina, Mena, Walter, Rhonda S, Bibb, Audrey, Jones, Melanie, Hegde, Madhuri, Graham, Brett H, Need, Anna C, Oviedo, Angelica, Schaaf, Christian P, Boyle, Sean, Butte, Atul J, Chen, Rui, Chen, Rong, Clark, Michael J, Haraksingh, Rajini, Cowan, Tina M, He, Ping, Langlois, Sylvie, Zoghbi, Huda Y, Snyder, Michael, Gibbs, Richard A, Freeze, Hudson H, Goldstein, David B

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Report of a mother and daughter with the 12q14 microdeletion syndrome by Bibb, Audrey L., Rosenfeld, Jill A., Weaver, David D.

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eP339: Ending the diagnostic odyssey: De novo mosaic pathogenic 2,123 bp deletion in CDKL5 identified on genome sequencing by Davids, Laura, Palaniappan, Selvi, Bibb, Audrey, Russo, Rossana Sanchez

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Expanding the phenotypic spectrum of ARCN1-related syndrome by Ritter, Alyssa L., Gold, Jessica, Hayashi, Hiroshi, Ackermann, Amanda M., Hanke, Stephanie, Skraban, Cara, Cuddapah, Sanmati, Bhoj, Elizabeth, Li, Dong, Kuroda, Yukiko, Wen, Jessica, Takeda, Ryojun, Bibb, Audrey, El Chehadeh, Salima, Piton, Amélie, Ohl, Jeanine, Kukolich, Mary K., Nagasaki, Keisuke, Kato, Kohji, Ogi, Tomoo, Bhatti, Tricia, Russo, Pierre, Krock, Bryan, Murrell, Jill R., Sullivan, Jennifer A., Shashi, Vandana, Stong, Nicholas, Hakonarson, Hakon, Sawano, Kentaro, Torti, Erin, Willaert, Rebecca, Si, Yue, Wilcox, William Ross, Wirgenes, Katrine Verena, Thomassen, Kristian, Carlotti, Katherine, Erwin, Angelika, Lazier, Joanna, Marquardt, Thorsten, He, Miao, Edmondson, Andrew C., Izumi, Kosuke

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Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study by Martin-Brevet, Sandra, Nielsen, Jared A., Maillard, Anne M., Richetin, Sonia, Jønch, Aia E., Zürcher, Nicole R., Addor, Marie-Claude, Andrieux, Joris, Arveiler, Benoît, Baujat, Geneviève, Sloan-Béna, Frédérique, Belfiore, Marco, Bouquillon, Sonia, Brusco, Alfredo, Busa, Tiffany, Cordier, Marie-Pierre, David, Albert, Edery, Patrick, Fagerberg, Christina, Forzano, Francesca, Genevieve, David, Gérard, Marion, Giachino, Daniela, Guichet, Agnès, Guillin, Olivier, Jacquette, Aurélia, Jaillard, Sylvie, Le Caignec, Cédric, Lemaître, Marie-Pierre, Lespinasse, James, Pilekær Sørensen, Kristina, Pinson, Lucile, Prieur, Fabienne, Rooryck-Thambo, Caroline, Till, Marianne, Van Haelst, Mieke, Van Maldergem, Lionel, Ackerman, Sean, Anwar, Ayesha, Bowe, Alexandra, Berg, Jessica, Berman, Jeffrey, Berry, Leandra N., Blaskey, Lisa, Burko, Jordan, Chang, Yishin, Cheong, Maxwell, Chudnovskaya, Darina, Cornew, Lauren, Dale, Corby, Dempsey, Allison G., Earl, Rachel, Edgar, James, Fischbach, Gerald D., Fregeau, Brieana, Gaetz, Leah, Garza, Silvia, Gerdts, Jennifer, Glenn, Orit, Golembski, Rachel, Greenup, Marion, Hines, Katherine, Jenkins, Julian, Jeremy, Rita J., Kessler, Sudha, Khan, Sarah Y., Ku, Matthew, Laakman, Anna L., Lam, Peter, LaGuerre, Kevin, Llorens, Ashlie V., Campe, Katherine Loftus, Luks, Tracy L., McNally Keehn, Rebecca, Moss, Timothy J., Nagarajan, Srikantan S., Paal, Andrea M., Packer, Alan, Paul, Brianna M., Poduri, Annapurna, Pojman, Nicholas J., Porche, Ken, Proud, Monica B., Ramocki, Melissa B., Reilly, Beau, Roberts, Timothy P.L., Gallagher, Anne Snow, Thieu, Tony, Triantafallou, Christina, Vaughan, Roger, Wakahiro, Mari, Wallace, Arianne, Ward, Tracey, Wenegrat, Julia, Sherr, Elliott H., Spiro, John E., Kherif, Ferath, Hadjikhani, Nouchine, Reymond, Alexandre, Buckner, Randy L.

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Report of a mother and daughter with the 12q14 microdeletion syndrome by Bibb, Audrey L., Rosenfeld, Jill A., Weaver, David D.

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