NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease by Martin, Paige B., Kigoshi-Tansho, Yu, Sher, Roger B., Ravenscroft, Gianina, Stauffer, Jennifer E., Kumar, Rajesh, Yonashiro, Ryo, Müller, Tina, Griffith, Christopher, Allen, William, Pehlivan, Davut, Harel, Tamar, Zenker, Martin, Howting, Denise, Schanze, Denny, Faqeih, Eissa A., Almontashiri, Naif A. M., Maroofian, Reza, Houlden, Henry, Mazaheri, Neda, Galehdari, Hamid, Douglas, Ganka, Posey, Jennifer E., Ryan, Monique, Lupski, James R., Laing, Nigel G., Joazeiro, Claudio A. P., Cox, Gregory A.

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Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability by Ziegler, Alban, Bader, Patricia, McWalter, Kirsty, Douglas, Ganka, Houdayer, Clara, Bris, Céline, Rouleau, Stephanie, Coutant, Régis, Colin, Estelle, Bonneau, Dominique

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Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome by Steele, Jacqueline L., Morrow, Michelle M., Sarnat, Harvey B., Alkhunaizi, Ebba, Brandt, Tracy, Chitayat, David A., DeFilippo, Colette P., Douglas, Ganka V., Dubbs, Holly A., Elloumi, Houda Zghal, Glassford, Megan R., Hannibal, Mark C., Héron, Bénédicte, Kim, Linda E., Marco, Elysa J., Mignot, Cyril, Monaghan, Kristin G., Myers, Kenneth A., Parikh, Sumit, Quinonez, Shane C., Rajabi, Farrah, Shankar, Suma P., Shinawi, Marwan S., van de Kamp, Jiddeke J.P., Veerapandiyan, Aravindhan, Waldman, Amy T., Graf, William D.

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Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans by Alfadhel, Majid, Nashabat, Marwan, Qahtani, Hanan Al, Alfares, Ahmed, Mutairi, Fuad Al, Shaalan, Hesham Al, Douglas, Ganka V., Wierenga, Klaas, Juusola, Jane, Alrifai, Muhammad Talal, Arold, Stefan T., Alkuraya, Fowzan, Ali, Qais Abu

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P149: Exome sequencing vs chromosomal microarray for copy number variant detection by McWalter, Kirsty, Douglas, Ganka, Lindy, Amanda, Juusola, Jane, Kruszka, Paul

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Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease by Martin, Paige B., Kigoshi-Tansho, Yu, Sher, Roger B., Ravenscroft, Gianina, Stauffer, Jennifer E., Kumar, Rajesh, Yonashiro, Ryo, Müller, Tina, Griffith, Christopher, Allen, William, Pehlivan, Davut, Harel, Tamar, Zenker, Martin, Howting, Denise, Schanze, Denny, Faqeih, Eissa A., Almontashiri, Naif A. M., Maroofian, Reza, Houlden, Henry, Mazaheri, Neda, Galehdari, Hamid, Douglas, Ganka, Posey, Jennifer E., Ryan, Monique, Lupski, James R., Laing, Nigel G., Joazeiro, Claudio A. P., Cox, Gregory A.

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The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies by Shen, Wei, Heeley, Jennifer M., Carlston, Colleen M., Acuna‐Hidalgo, Rocio, Nillesen, Willy M., Dent, Karin M., Douglas, Ganka V., Levine, Kara L., Bayrak‐Toydemir, Pinar, Marcelis, Carlo L., Shinawi, Marwan, Carey, John C.

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De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder by Mattioli, Francesca, Hayot, Gaelle, Drouot, Nathalie, Isidor, Bertrand, Courraud, Jérémie, Hinckelmann, Maria-Victoria, Mau-Them, Frederic Tran, Sellier, Chantal, Goldman, Alica, Telegrafi, Aida, Boughton, Alicia, Gamble, Candace, Moutton, Sebastien, Quartier, Angélique, Jean, Nolwenn, Van Ness, Paul, Grotto, Sarah, Nambot, Sophie, Douglas, Ganka, Si, Yue Cindy, Chelly, Jamel, Shad, Zohra, Kaplan, Elisabeth, Dineen, Richard, Golzio, Christelle, Charlet-Berguerand, Nicolas, Mandel, Jean-Louis, Piton, Amélie

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De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment by Okur, Volkan, Cho, Megan T, van Wijk, Richard, van Oirschot, Brigitte, Picker, Jonathan, Coury, Stephanie A, Grange, Dorothy, Manwaring, Linda, Krantz, Ian, Muraresku, Colleen Clark, Hulick, Peter J, May, Holley, Pierce, Eric, Place, Emily, Bujakowska, Kinga, Telegrafi, Aida, Douglas, Ganka, Monaghan, Kristin G, Begtrup, Amber, Wilson, Ashley, Retterer, Kyle, Anyane-Yeboa, Kwame, Chung, Wendy K

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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia by Bhoj, Elizabeth J., Li, Dong, Harr, Margaret, Edvardson, Shimon, Elpeleg, Orly, Chisholm, Elizabeth, Juusola, Jane, Douglas, Ganka, Guillen Sacoto, Maria J., Siquier-Pernet, Karine, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Narravula, Alekhya, Walke, Maria, Horner, Michele B., Day-Salvatore, Debra-Lynn, Jayakar, Parul, Vergano, Samantha A. Schrier, Tarnopolsky, Mark A., Hegde, Madhuri, Colleaux, Laurence, Crino, Peter, Hakonarson, Hakon

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De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic feature... by Douglas, Ganka, Cho, Megan T., Telegrafi, Aida, Winter, Susan, Carmichael, Jason, Zackai, Elaine H., Deardorff, Matthew A., Harr, Margaret, Williams, Linford, Psychogios, Apostolos, Erwin, Angelika L., Grebe, Theresa, Retterer, Kyle, Juusola, Jane

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P583: Four cases of mosaic triploidy identified by trio exome sequencing by Wang, Wei, Henderson, Lindsay, Scuffins, Julie, Dyer, Lisa, Dyer, Lindsay Havens, Douglas, Ganka, Monaghan, Kristin, Morrow, Michelle, Matyakhina, Ludmila

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Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes by Sadikovic, Bekim, Wang, Jing, El-Hattab, Ayman W, Landsverk, Megan, Douglas, Ganka, Brundage, Ellen K, Craigen, William J, Schmitt, Eric S, Wong, Lee-Jun C

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Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes by Sadikovic, Bekim, Wang, Jing, El-Hattab, Ayman, Landsverk, Megan, Douglas, Ganka, Brundage, Ellen K, Craigen, William J, Schmitt, Eric S, Wong, Lee-Jun C

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P453: Diagnostic yield of copy number variants by exome sequencing vs chromosomal microarray by Douglas, Ganka, Meck, Jeanne, Dyer, Lindsay Havens, Brandon, Rhonda, Dyer, Lisa, Ferri, Patricia Fernandez, Liao, Mingjuan, Liu, Shuxi, Matyakhina, Ludmila, Rajcan-Separovic, Evica, Sack, Laura, Sanyoura, May, Wang, Wei, Kruszka, Paul

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Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis by Wang, Guo-li, Wang, Jing, Douglas, Ganka, Browning, Marsha, Hahn, Sihoun, Ganesh, Jaya, Cox, Sarah, Aleck, Kirk, Schmitt, Eric S., Zhang, Wei, Wong, Lee-Jun C.

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Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity by Parente, Daniel J., Garriga, Caryn, Baskin, Berivan, Douglas, Ganka, Cho, Megan T., Araujo, Gabriel C., Shinawi, Marwan

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language by Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.

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CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes by Maio, Nunziata, Orbach, Rotem, Zaharieva, Irina T, Töpf, Ana, Donkervoort, Sandra, Munot, Pinki, Mueller, Juliane, Willis, Tracey, Verma, Sumit, Peric, Stojan, Krishnakumar, Deepa, Sudhakar, Sniya, Foley, A Reghan, Silverstein, Sarah, Douglas, Ganka, Pais, Lynn, DiTroia, Stephanie, Grunseich, Christopher, Hu, Ying, Sewry, Caroline, Sarkozy, Anna, Straub, Volker, Muntoni, Francesco, Rouault, Tracey A, Bönnemann, Carsten G

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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation by Ferreira, Carlos R., Xia, Zhi-Jie, Clément, Aurélie, Parry, David A., Davids, Mariska, Taylan, Fulya, Sharma, Prashant, Turgeon, Coleman T., Blanco-Sánchez, Bernardo, Ng, Bobby G., Logan, Clare V., Wolfe, Lynne A., Solomon, Benjamin D., Cho, Megan T., Douglas, Ganka, Carvalho, Daniel R., Bratke, Heiko, Haug, Marte Gjøl, Phillips, Jennifer B., Wegner, Jeremy, Tiemeyer, Michael, Aoki, Kazuhiro, Nordgren, Ann, Hammarsjö, Anna, Duker, Angela L., Rohena, Luis, Hove, Hanne Buciek, Ek, Jakob, Adams, David, Tifft, Cynthia J., Onyekweli, Tito, Weixel, Tara, Macnamara, Ellen, Radtke, Kelly, Powis, Zöe, Earl, Dawn, Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Tham, Emma, Raymond, Kimiyo M., Phillips, John A., Tiller, George E., Wilson, William G., Hamid, Rizwan, Malicdan, May C.V., Nishimura, Gen, Grigelioniene, Giedre, Jackson, Andrew, Westerfield, Monte, Bober, Michael B., Gahl, William A., Freeze, Hudson H.

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