Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature by Schönewolf‐Greulich, B., Bisgaard, A‐M., Møller, R.S., Dunø, M., Brøndum‐Nielsen, K., Kaur, S., Van Bergen, N.J., Lunke, S., Eggers, S., Jespersgaard, C., Christodoulou, J., Tümer, Z.

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The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome by Schönewolf-Greulich, B., Tejada, M.-I., Stephens, K., Hadzsiev, K., Gauthier, J., Brøndum-Nielsen, K., Pfundt, R., Ravn, K., Maortua, H., Gener, B., Martínez-Bouzas, C., Piton, A., Rouleau, G., Clayton-Smith, J., Kleefstra, T., Bisgaard, A.-M., Tümer, Z.

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Corrigendum to “Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex” [Mol. Genet. Metab. 120(4) (Apr 2017) 384–391]... by Møller, L.B., Schönewolf-Greulich, B., Rosengren, T., Larsen, L.J., Ostergaard, J.R., Sommerlund, M., Ostenfeldt, C., Stausbøl-Grøn, B., Linnet, K.M., Gregersen, P.A., Jensen, U.B.

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P189 – 2279: Is the regression period in Rett syndrome well defined and easy to recognize? by Bisgaard, A.M, Stahlhut, M, Larsen, J.L, Syhler, B, Schönewolf-Greulich, B

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OP21 – 2277: Centre for Rett syndrome in Denmark – Clinical follow-up with short distance to research by Bisgaard, A.M, Stahlhut, M, Larsen, J.L, Syhler, B, Kragerup, K, Larsen, S.G, Schönewolf-Greulich, B

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The MECP2 variant c. 925C >T (p. Arg309Trp ) causes intellectual disability in both males and females without classic features of Rett syndrome by Schönewolf‐Greulich, B., Tejada, M.‐I., Stephens, K., Hadzsiev, K., Gauthier, J., Brøndum‐Nielsen, K., Pfundt, R., Ravn, K., Maortua, H., Gener, B., Martínez‐Bouzas, C., Piton, A., Rouleau, G., Clayton‐Smith, J., Kleefstra, T., Bisgaard, A.‐M., Tümer, Z.

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Autism and developmental disability caused by KCNQ3 gain‐of‐function variants by Sands, Tristan T., Miceli, Francesco, Lesca, Gaetan, Beck, Anita E., Sadleir, Lynette G., Arrington, Daniel K., Schönewolf‐Greulich, Bitten, Moutton, Sébastien, Lauritano, Anna, Nappi, Piera, Soldovieri, Maria Virginia, Scheffer, Ingrid E., Mefford, Heather C., Stong, Nicholas, Heinzen, Erin L., Goldstein, David B., Perez, Ana Grijalvo, Kossoff, Eric H., Stocco, Amber, Sullivan, Jennifer A., Shashi, Vandana, Gerard, Benedicte, Francannet, Christine, Bisgaard, Anne‐Marie, Tümer, Zeynep, Willems, Marjolaine, Rivier, François, Vitobello, Antonio, Thakkar, Kavita, Rajan, Deepa S., Barkovich, A. James, Weckhuysen, Sarah, Cooper, Edward C., Taglialatela, Maurizio, Cilio, M. Roberta

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Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders by Nøstvik, Miriam, Kateta, Sarah M., Schönewolf‐Greulich, Bitten, Afenjar, Alexandra, Barth, Magalie, Boschann, Felix, Doummar, Diane, Haack, Tobias B., Keren, Boris, Livshits, Ludmila A., Mei, Davide, Park, Joohyun, Pisano, Tiziana, Prouteau, Clement, Umair, Muhammad, Waqas, Ahmed, Ziegler, Alban, Guerrini, Renzo, Møller, Rikke S., Tümer, Zeynep

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Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA by Revencu, Nicole, Eijkelenboom, Astrid, Bracquemart, Claire, Alhopuro, Pia, Armstrong, Judith, Baselga, Eulalia, Cesario, Claudia, Dentici, Maria Lisa, Eyries, Melanie, Frisk, Sofia, Karstensen, Helena Gásdal, Gene-Olaciregui, Nagore, Kivirikko, Sirpa, Lavarino, Cinzia, Mero, Inger-Lise, Michiels, Rodolphe, Pisaneschi, Elisa, Schönewolf-Greulich, Bitten, Wieland, Ilse, Zenker, Martin, Vikkula, Miikka

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Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family by Schönewolf-Greulich, Bitten, Ravn, Kirstine, Hamborg-Petersen, Bente, Brøndum-Nielsen, Karen, Tümer, Zeynep

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