<i>MED12</i>-Related (Neuro)Developmental Disorders: A Question of Causality by Stijn R. van de Plassche, Arjan P. M. de Brouwer

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Intellectual disability genomics: current state, pitfalls and future challenges by Nuno Maia, Maria João Nabais Sá, Manuel Melo-Pires, Arjan P. M. de Brouwer, Paula Jorge

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A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient by Daniel L. Polla, Harriet R. Saunders, Bert B. A. deVries, Hans vanBokhoven, Arjan P. M. deBrouwer

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Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB by Nuno Maia, Ana Rita Soares, Ana Maria Fortuna, Isabel Marques, Ana Gonçalves, Rosário Santos, Manuel Melo Pires, Arjan P. M. de Brouwer, Paula Jorge

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Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder? by Nuno Maia, Maria João Nabais Sá, Cláudia Oliveira, Flávia Santos, Célia Azevedo Soares, Catarina Prior, Nataliya Tkachenko, Rosário Santos, Arjan P. M. de Brouwer, Ariana Jacome, Beatriz Porto, Paula Jorge

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B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular dystrophy-dystroglycan... by Reza Maroofian, Moniek Riemersma, Lucas T. Jae, Narges Zhianabed, Marjolein H. Willemsen, Willemijn M. Wissink-Lindhout, Michèl A. Willemsen, Arjan P. M. de Brouwer, Mohammad Yahya Vahidi Mehrjardi, Mahmoud Reza Ashrafi, Benno Kusters, Tjitske Kleefstra, Yalda Jamshidi, Mojila Nasseri, Rolph Pfundt, Thijn R. Brummelkamp, Mohammad Reza Abbaszadegan, Dirk J. Lefeber, Hans van Bokhoven

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Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. by Dirk J Lefeber, Arjan P M de Brouwer, Eva Morava, Moniek Riemersma, Janneke H M Schuurs-Hoeijmakers, Birgit Absmanner, Kiek Verrijp, Willem M R van den Akker, Karin Huijben, Gerry Steenbergen, Jeroen van Reeuwijk, Adam Jozwiak, Nili Zucker, Avraham Lorber, Martin Lammens, Carlos Knopf, Hans van Bokhoven, Stephanie Grünewald, Ludwig Lehle, Livia Kapusta, Hanna Mandel, Ron A Wevers

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SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice by Salima El Chehadeh, Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim, Hee Young Kim, Jinhu Kim, Hyeonho Kim, Julia Wynn, Wendy K. Chung, Giuseppina Vitiello, Ioana Cutcutache, Matthew Page, Jozef Gecz, Kelly Harper, Ah-reum Han, Ho Min Kim, Marja Wessels, Allan Bayat, Alberto Fernández Jaén, Angelo Selicorni, Silvia Maitz, Arjan P. M. de Brouwer, Anneke Vulto-van Silfhout, Martin Armstrong, Joseph Symonds, Sébastien Küry, Bertrand Isidor, Benjamin Cogné, Mathilde Nizon, Claire Feger, Jean Muller, Erin Torti, Dorothy K. Grange, Marjolaine Willems, Michael C. Kruer, Jaewon Ko, Amélie Piton, Ji Won Um

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