Brain Abnormalities in Patients with Germline Variants in H3F3 : Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors by Alves, C A P F, Sherbini, O, D'Arco, F, Steel, D, Kurian, M A, Radio, F C, Ferrero, G B, Carli, D, Tartaglia, M, Balci, T B, Powell-Hamilton, N N, Schrier Vergano, S A, Reutter, H, Hoefele, J, Günthner, R, Roeder, E R, Littlejohn, R O, Lessel, D, Lüttgen, S, Kentros, C, Anyane-Yeboa, K, Catarino, C B, Mercimek-Andrews, S, Denecke, J, Lyons, M J, Klopstock, T, Bhoj, E J, Bryant, L, Vanderver, A

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Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures by Stern, D., Cho, M.T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie‐Rosell, A., Burton, B.K., Kim, K.H., Oundjian, N., Kronn, D., Chandy, N., Baskin, B., Guillen Sacoto, M.J., Wentzensen, I.M., McLaughlin, H.M., McKnight, D., Chung, W.K.

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Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP by Van Dijck, Anke, Vulto-van Silfhout, Anneke T., Cappuyns, Elisa, van der Werf, Ilse M., Mancini, Grazia M., Tzschach, Andreas, Bernier, Raphael, Gozes, Illana, Eichler, Evan E., Romano, Corrado, Lindstrand, Anna, Nordgren, Ann, Bakshi, Madhura, Wilson, Meredith, Berman, Yemina, Dickson, Rebecca, Fransen, Erik, Helsmoortel, Céline, Van den Ende, Jenneke, Van der Aa, Nathalie, van de Wijdeven, Marina J., Rosenblum, Jessica, Monteiro, Fabíola, Kok, Fernando, Quercia, Nada, Bowdin, Sarah, Dyment, David, Chitayat, David, Alkhunaizi, Ebba, Boonen, Susanne E., Keren, Boris, Jacquette, Aurelia, Faivre, Laurence, Bezieau, Stephane, Isidor, Bertrand, Rieß, Angelika, Moog, Ute, Lynch, Sally Ann, McVeigh, Terri, Elpeleg, Orly, Smeland, Marie Falkenberg, Fannemel, Madeleine, van Haeringen, Arie, Maas, Saskia M., Veenstra-Knol, H.E., Schouten, Meyke, Willemsen, Marjolein H., Marcelis, Carlo L., Ockeloen, Charlotte, van der Burgt, Ineke, Feenstra, Ilse, van der Smagt, Jasper, Jezela-Stanek, Aleksandra, Krajewska-Walasek, Malgorzata, González-Lamuño, Domingo, Anderlid, Britt-Marie, Malmgren, Helena, Nordenskjöld, Magnus, Hurst, Jane, Metcalfe, Kay, Mansour, Sahar, Lachlan, Katherine, Clayton-Smith, Jill, Hendon, Laura G., Abdulrahman, Omar A., Morrow, Eric, McMillan, Clare, Gerdts, Jennifer, Peeden, Joseph, Schrier Vergano, Samantha A., Valentino, Caitlin, Chung, Wendy K., Ozmore, Jillian R., Bedrosian-Sermone, Sandra, Treat, Kayla, Hughes, Susan Starling, Safina, Nicole, Le Pichon, Jean-Baptiste, McGuire, Marianne, Infante, Elena, Madan-Khetarpal, Suneeta, Desai, Sonal, Benke, Paul, Krokosky, Alyson, Cristian, Ingrid, Baker, Laura, Gripp, Karen, Stessman, Holly A., Eichenberger, Jacob, Jayakar, Parul, Manning, Melanie Ann, Slattery, Leah, Kvarnung, Malin, Kleefstra, Tjitske, de Vries, Bert B.A., Küry, Sébastien, Rosenfeld, Jill A., Meuwissen, Marije E., Vandeweyer, Geert, Kooy, R. Frank

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Association of the missense variant p. Arg203Trp in PACS1 as a cause of intellectual disability and seizures by Stern, D., Cho, M.T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie‐Rosell, A., Burton, B.K., Kim, K.H., Oundjian, N., Kronn, D., Chandy, N., Baskin, B., Guillen Sacoto, M.J., Wentzensen, I.M., McLaughlin, H.M., McKnight, D., Chung, W.K.

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Making Decisions About Krabbe Disease Newborn Screening by Schrier Vergano, Samantha A, Kanungo, Shibani, Arnold, Georgianne

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Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome by Vasko, Ashley, Drivas, Theodore G, Schrier Vergano, Samantha A

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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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Epilepsy in Coffin–Siris syndrome: A report from the international CSS registry and review of the literature by Ciliberto, Michael, Skjei, Karen, Vasko, Ashley, Schrier Vergano, Samantha

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Author Response by Schrier Vergano, Samantha A.

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Schaaf‐Yang syndrome overview: Report of 78 individuals by McCarthy, John, Lupo, Philip J., Kovar, Erin, Rech, Megan, Bostwick, Bret, Scott, Daryl, Kraft, Katerina, Roscioli, Tony, Charrow, Joel, Schrier Vergano, Samantha A., Lose, Edward, Smiegel, Robert, Lacassie, Yves, Schaaf, Christian P.

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ARID2, a milder cause of Coffin‐Siris Syndrome? Broadening the phenotype with 17 additional individuals by Schrier Vergano, Samantha A.

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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis by Weiss, Karin, Lazar, Hayley P, Kurolap, Alina, Martinez, Ariel F, Paperna, Tamar, Cohen, Lior, Smeland, Marie F, Whalen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D, Petrovich, Robert M, Schrier Vergano, Samantha A, Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C, Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R, Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M, Zackai, Elaine H, Dubbs, Holly A, Smol, Thomas, Ghoumid, Jamal, Parker, Michael J, Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D, Baris Feldman, Hagit, Campeau, Philippe M, Muenke, Maximilian, Wade, Paul A, Lachlan, Katherine

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Language Impairments in Individuals With Coffin-Siris Syndrome by Vasko, Ashley, Schrier Vergano, Samantha A

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Addressing underrepresentation in genomics research through community engagement by Lemke, Amy A., Esplin, Edward D., Goldenberg, Aaron J., Gonzaga-Jauregui, Claudia, Hanchard, Neil A., Harris-Wai, Julie, Ideozu, Justin E., Isasi, Rosario, Landstrom, Andrew P., Prince, Anya E.R., Turbitt, Erin, Sabatello, Maya, Schrier Vergano, Samantha A., Taylor, Matthew R.G., Yu, Joon-Ho, Brothers, Kyle B., Garrison, Nanibaa’ A.

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De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes by Liang, Lina, Li, Xia, Moutton, Sébastien, Schrier Vergano, Samantha A, Cogné, Benjamin, Saint-Martin, Anne, Hurst, Anna C E, Hu, Yushuang, Bodamer, Olaf, Thevenon, Julien, Hung, Christina Y, Isidor, Bertrand, Gerard, Bénédicte, Rega, Adelaide, Nambot, Sophie, Lehalle, Daphné, Duffourd, Yannis, Thauvin-Robinet, Christel, Faivre, Laurence, Bézieau, Stéphane, Dure, Leon S, Helbling, Daniel C, Bick, David, Xu, Chengqi, Chen, Qiuyun, Mancini, Grazia M S, Vitobello, Antonio, Wang, Qing Kenneth

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Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia by Gofin, Yoel, Zhao, Xiaonan, Gerard, Amanda, Scaglia, Fernando, Wangler, Michael F., Schrier Vergano, Samantha A., Scott, Daryl A.

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Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect by Wang, Julia, Kim, Emily, Dai, Honzheng, Stefans, Vikki, Vogel, Hannes, Al Jasmi, Fatma, Schrier Vergano, Samantha A., Castro, Diana, Bernes, Saunder, Bhambhani, Vikas, Long, Catherine, El-Hattab, Ayman W., Wong, Lee-Jun

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First data from a parent‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendations by Mannino, Elizabeth A., Miyawaki, Hanae, Santen, Gijs, Schrier Vergano, Samantha A.

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Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire by Grünert, Sarah C., Derks, Terry G.J., Adrian, Katarina, Al-Thihli, Khalid, Ballhausen, Diana, Bidiuk, Joanna, Bordugo, Andrea, Boyer, Monica, Bratkovic, Drago, Brunner-Krainz, Michaela, Burlina, Alberto, Chakrapani, Anupam, Corpeleijn, Willemijn, Cozens, Alison, Dawson, Charlotte, Dhamko, Helena, Milosevic, Maja Djordjevic, Eiroa, Hernan, Finezilber, Yael, Moura de Souza, Carolina Fischinger, Garcia-Jiménez, Maria Concepción, Gasperini, Serena, Haas, Dorothea, Häberle, Johannes, Halligan, Rebecca, Fung, Law Hiu, Hörbe-Blindt, Alexandra, Horka, Laura Maria, Huemer, Martina, Uçar, Sema Kalkan, Kecman, Bozica, Kilavuz, Sebile, Kriván, Gergely, Lindner, Martin, Lüsebrink, Natalia, Makrilakis, Konstantinos, Mei-Kwun Kwok, Anne, Maier, Esther M., Maiorana, Arianna, McCandless, Shawn E., Mitchell, John James, Mizumoto, Hiroshi, Mundy, Helen, Ochoa, Carlos, Pierce, Kathryn, Fraile, Pilar Quijada, Regier, Debra, Rossi, Alessandro, Santer, René, Schuman, Hester C., Sobieraj, Piotr, Spenger, Johannes, Spiegel, Ronen, Stepien, Karolina M., Tal, Galit, Tanšek, Mojca Zerjav, Torkar, Ana Drole, Tchan, Michel, Thyagu, Santhosh, Schrier Vergano, Samantha A., Vucko, Erika, Weinhold, Natalie, Zsidegh, Petra, Wortmann, Saskia B.

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Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome by Wambach, Jennifer A., Wegner, Daniel J., Patni, Nivedita, Kircher, Martin, Willing, Marcia C., Baldridge, Dustin, Xing, Chao, Agarwal, Anil K., Vergano, Samantha A. Schrier, Patel, Chirag, Grange, Dorothy K., Kenney, Amy, Najaf, Tasnim, Nickerson, Deborah A., Bamshad, Michael J., Cole, F. Sessions, Garg, Abhimanyu

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