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

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Schaaf‐Yang syndrome overview: Report of 78 individuals von 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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Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia von 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 von 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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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia von 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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Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome von Vasko, Ashley, Drivas, Theodore G., Vergano, Samantha A. Schrier

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SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases von Zarate, Yuri A., Bhoj, Elizabeth, Kaylor, Julie, Li, Dong, Tsurusaki, Yoshinori, Miyake, Noriko, Matsumoto, Naomichi, Phadke, Shubha, Escobar, Luis, Irani, Afifa, Hakonarson, Hakon, Schrier Vergano, Samantha A.

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Language Impairments in Individuals With Coffin-Siris Syndrome von Vasko, Ashley, Schrier Vergano, Samantha 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 von 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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Addressing underrepresentation in genomics research through community engagement von 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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Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum von Langley, Katherine G., Brown, Jordan, Gerber, Richard J., Fox, Janelle, Friez, Michael J., Lyons, Michael, Schrier Vergano, Samantha A.

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First data from a parent‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendations von 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 von 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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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis von 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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Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2 von Blackburn, Patrick R., Schultz, Matthew J., Lahner, Carrie A., Li, Dong, Bhoj, Elizabeth, Fisher, Laura J., Renaud, Deborah L., Kenney, Amy, Ibrahim, Niema, Hashem, Mais, Zain Seidahmed, Mohammed, Hasadsri, Linda, Schrier Vergano, Samantha A., Alkuraya, Fowzan S., Lanpher, Brendan C.

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Exome and RNA‐Seq analyses of an incomplete penetrance variant in USP9X in female‐specific syndromic intellectual disability von Li, Dong, March, Michael E., Wang, Tiancheng, Merengwa, Victoria, Sertori Finoti, Livia, Schrier Vergano, Samantha A., Hakonarson, Hakon, Bhoj, Elizabeth J.

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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia von Muir, Alison M., Gardner, Jennifer F., van Jaarsveld, Richard H., de Lange, Iris M., van der Smagt, Jasper J., Wilson, Golder N., Dubbs, Holly, Goldberg, Ethan M., Zitano, Lia, Bupp, Caleb, Martinez, Jose, Srour, Myriam, Accogli, Andrea, Alhakeem, Afnan, Meltzer, Meira, Gropman, Andrea, Brewer, Carole, Caswell, Richard C., Montgomery, Tara, McKenna, Caoimhe, McKee, Shane, Powell, Corinna, Vasudevan, Pradeep C., Brady, Angela F., Joss, Shelagh, Tysoe, Carolyn, Noh, Grace, Tarnopolsky, Mark, Brady, Lauren, Zafar, Muhammad, Schrier Vergano, Samantha A., Murray, Brianna, Sawyer, Lindsey, Hainline, Bryan E., Sapp, Katherine, DeMarzo, Danielle, Huismann, Darcy J., Wentzensen, Ingrid M., Schnur, Rhonda E., Monaghan, Kristin G., Juusola, Jane, Rhodes, Lindsay, Dobyns, William B., Lecoquierre, Francois, Goldenberg, Alice, Polster, Tilman, Axer-Schaefer, Susanne, Platzer, Konrad, Klöckner, Chiara, Hoffman, Trevor L., MacArthur, Daniel G., O’Leary, Melanie C., VanNoy, Grace E., England, Eleina, Varghese, Vinod C., Mefford, Heather C.

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Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance von Russell, Bianca, Johnston, Jennifer J., Biesecker, Leslie G., Kramer, Nancy, Pickart, Angela, Rhead, William, Tan, Wen-Hann, Brownstein, Catherine A., Kate Clarkson, L., Dobson, Amy, Rosenberg, Avi Z., Vergano, Samantha A. Schrier, Helm, Benjamin M., Harrison, Rachel E., Graham Jr, John M.

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Molecular and clinical spectra of FBXL4 deficiency von El‐Hattab, Ayman W., Dai, Hongzheng, Almannai, Mohammed, Wang, Julia, Faqeih, Eissa A., Al Asmari, Ali, Saleh, Mohammed A. M., Elamin, Mohammed A. O., Alfadhel, Majid, Alkuraya, Fowzan S., Hashem, Mais, Aldosary, Mazhor S., Almass, Rawan, Almutairi, Faten B., Alsagob, Maysoon, Al‐Owain, Mohammed, Al‐Sharfa, Shirin, Al‐Hassnan, Zuhair N., Rahbeeni, Zuhair, Al‐Muhaizea, Mohammed A., Makhseed, Nawal, Foskett, Gretchen K., Stevenson, David A., Gomez‐Ospina, Natalia, Lee, Chung, Boles, Richard G., Schrier Vergano, Samantha A., Wortmann, Saskia B., Sperl, Wolfgang, Opladen, Thomas, Hoffmann, Georg F., Hempel, Maja, Prokisch, Holger, Alhaddad, Bader, Mayr, Johannes A., Chan, Wenyaw, Kaya, Namik, Wong, Lee‐Jun C.

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EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients von Cohen, Jennifer L., Schrier Vergano, Samantha A., Mazzola, Sarah, Strong, Alanna, Keena, Beth, McDougall, Carey, Ritter, Alyssa, Li, Dong, Bedoukian, Emma C., Burke, Leah W., Hoffman, Amber, Zurcher, Victoria, Krantz, Ian D., Izumi, Kosuke, Bhoj, Elizabeth, Zackai, Elaine H., Deardorff, Matthew A.

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