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

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

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

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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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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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Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders von Valencia, Alfredo M., Sankar, Akshay, van der Sluijs, Pleuntje J., Satterstrom, F. Kyle, Fu, Jack, Talkowski, Michael E., Vergano, Samantha A. Schrier, Santen, Gijs W. E., Kadoch, Cigall

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The retina is Intact von Bouaziz, M., Schrier, A., Kaden, T.R.

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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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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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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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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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Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome von 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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Agricultural peatlands: towards a greenhouse gas sink – a synthesis of a Dutch landscape study von Schrier-Uijl, A. P, Kroon, P. S, Hendriks, D. M. D, Hensen, A, Van Huissteden, J, Berendse, F, Veenendaal, E. M

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Release of CO₂ and CH₄ from lakes and drainage ditches in temperate wetlands von Schrier-Uijl, A. P., Veraart, A. J., Leffelaar, P. A., Berendse, F., Veenendaal, E. M.

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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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Brain Abnormalities in Patients with Germline Variants in H3F3 : Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors von 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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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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