RLIM-specific activity reporters define variant pathogenicity in Tonne-Kalscheuer syndrome von Bandi, Venkateshwarlu, Rennie, Martin, Koch, Intisar, Gill, Polly, Pacheco, Oscar D., Berg, Aaron D., Cui, Hong, Ward, D. Isum, Bustos, Francisco

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U2AF2 variant in a patient with developmental delay, dysmorphic features, and epilepsy von Kittock, Claire M., Saifeddine, Mohamad, Straight, Lisa, Ward, D. Isum

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Rare dysfunctional SCN2A variants are associated with malformation of cortical development von Clatot, Jérôme, Thompson, Christopher H, Sotardi, Susan, Jiang, Jinan, Trivisano, Marina, Balestrini, Simona, Ward, D Isum, Ginn, Natalie, Guaragni, Brunetta, Malerba, Laura, Vakrinou, Angeliki, Sherer, Mia, Helbig, Ingo, Somarowthu, Ala, Sisodiya, Sanjay M, Ben-Shalom, Roy, Guerrini, Renzo, Specchio, Nicola, George, Jr, Alfred L, Goldberg, Ethan M

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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay von Vissers, Lisenka E.L.M., Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L., Weijers, Dilys, Begtrup, Amber, McWalter, Kirsty, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E.V., Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Vernon, Hilary J., Brunet, Kendra, Ruivenkamp, Claudia, Kant, Sarina G., Kruszka, Paul, Larson, Austin, Afenjar, Alexandra, Billette de Villemeur, Thierry, Nugent, Kimberly, Raymond, F. Lucy, Venselaar, Hanka, Demurger, Florence, Soler-Alfonso, Claudia, Li, Dong, Bhoj, Elizabeth, Hayes, Ian, Hamilton, Nina Powell, Ahmad, Ayesha, Fisher, Rachel, van den Born, Myrthe, Willems, Marjolaine, Sorlin, Arthur, Delanne, Julian, Moutton, Sebastien, Christophe, Philippe, Mau-Them, Frederic Tran, Vitobello, Antonio, Goel, Himanshu, Massingham, Lauren, Phornphutkul, Chanika, Schwab, Jennifer, Keren, Boris, Charles, Perrine, Vreeburg, Maaike, De Simone, Lenika, Hoganson, George, Iascone, Maria, Milani, Donatella, Evenepoel, Lucie, Revencu, Nicole, Ward, D. Isum, Burns, Kaitlyn, Krantz, Ian, Raible, Sarah E., Murrell, Jill R., Wood, Kathleen, Cho, Megan T., van Bokhoven, Hans, Muenke, Maximilian, Kleefstra, Tjitske, Bodmer, Rolf, de Brouwer, Arjan P.M.

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Diamond-Blackfan Anemia: A Case Report and Review of the Literature von Dorn, Kaitlyn M., Burns, Kaitlyn D., Trout, Maija A. R., Ward, D. Isum, Wagner, KayeLyn J., Meyer, Lauritz R., Baack, Michelle L., Rodel, Rachel L.

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EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum von Hüffmeier, Ulrike, Kraus, Cornelia, Reuter, Miriam S, Uebe, Steffen, Abbott, Mary-Alice, Ahmed, Syed A, Rawson, Kristyn L, Barr, Eileen, Li, Hong, Bruel, Ange-Line, Faivre, Laurence, Tran Mau-Them, Frédéric, Botti, Christina, Brooks, Susan, Burns, Kaitlyn, Ward, D Isum, Dutra-Clarke, Marina, Martinez-Agosto, Julian A, Lee, Hane, Nelson, Stanley F, Zacher, Pia, Abou Jamra, Rami, Klöckner, Chiara, McGaughran, Julie, Kohlhase, Jürgen, Schuhmann, Sarah, Moran, Ellen, Pappas, John, Raas-Rothschild, Annick, Sacoto, Maria J Guillen, Henderson, Lindsay B, Palculict, Timothy Blake, Mullegama, Sureni V, Zghal Elloumi, Houda, Reich, Adi, Schrier Vergano, Samantha A, Wahl, Erica, Reis, André, Zweier, Christiane

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226. Whole Exome Sequencing (WES) in a Case-control Post Traumatic Stress Disorder (PTSD) Cohort von Lori, Adriana, Sobreira, Nara, Ward Ward, Isum D, Almli, Lynn M., Powers, Abigail, Michopolous, Vasiliki, Kerley, Kimberly, Wingo, Aliza, Bradley, Bekh, Boehm, Corinne, Jovanovic, Tanja, Ressler, Kerry

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Whole Exome Sequencing (WES) in a Case-control Post Traumatic Stress Disorder (PTSD) Cohort von Lori, Adriana, Sobreira, Nara, Ward Ward, Isum D, Almli, Lynn M, Powers, Abigail, Michopolous, Vasiliki, Kerley, Kimberly, Wingo, Aliza, Bradley, Bekh, Boehm, Corinne, Jovanovic, Tanja, Ressler, Kerry

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U2AF2 variant in a patient with developmental delay, dysmorphic features, and epilepsy von Kittock, Claire M, Saifeddine, Mohamad, Straight, Lisa, Ward, D Isum

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Additional file 2 of EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum von Hüffmeier, Ulrike, Kraus, Cornelia, Reuter, Miriam S., Uebe, Steffen, Abbott, Mary-Alice, Ahmed, Syed A., Rawson, Kristyn L., Barr, Eileen, Li, Hong, Bruel, Ange-Line, Faivre, Laurence, Tran Mau-Them, Frédéric, Botti, Christina, Brooks, Susan, Burns, Kaitlyn, Ward, D. Isum, Dutra-Clarke, Marina, Martinez-Agosto, Julian A., Lee, Hane, Nelson, Stanley F., Zacher, Pia, Abou Jamra, Rami, Klöckner, Chiara, McGaughran, Julie, Kohlhase, Jürgen, Schuhmann, Sarah, Moran, Ellen, Pappas, John, Raas-Rothschild, Annick, Sacoto, Maria J. Guillen, Henderson, Lindsay B., Palculict, Timothy Blake, Mullegama, Sureni V., Zghal Elloumi, Houda, Reich, Adi, Schrier Vergano, Samantha A., Wahl, Erica, Reis, André, Zweier, Christiane

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Additional file 1 of EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum von Hüffmeier, Ulrike, Kraus, Cornelia, Reuter, Miriam S., Uebe, Steffen, Abbott, Mary-Alice, Ahmed, Syed A., Rawson, Kristyn L., Barr, Eileen, Li, Hong, Bruel, Ange-Line, Faivre, Laurence, Tran Mau-Them, Frédéric, Botti, Christina, Brooks, Susan, Burns, Kaitlyn, Ward, D. Isum, Dutra-Clarke, Marina, Martinez-Agosto, Julian A., Lee, Hane, Nelson, Stanley F., Zacher, Pia, Abou Jamra, Rami, Klöckner, Chiara, McGaughran, Julie, Kohlhase, Jürgen, Schuhmann, Sarah, Moran, Ellen, Pappas, John, Raas-Rothschild, Annick, Sacoto, Maria J. Guillen, Henderson, Lindsay B., Palculict, Timothy Blake, Mullegama, Sureni V., Zghal Elloumi, Houda, Reich, Adi, Schrier Vergano, Samantha A., Wahl, Erica, Reis, André, Zweier, Christiane

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