Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome

Autor: Felix Marbach, Beata S. Lipska‐Ziętkiewicz, Agata Knurowska, Vincent Michaud, Henri Margot, James Lespinasse, Frédéric Tran Mau Them, Christine Coubes, Joohyun Park, Sarah Grosch, Cristiana Roggia, Ute Grasshoff, Louisa Kalsner, Anne‐Sophie Denommé‐Pichon, Alexandra Afenjar, Bénédicte Héron, Boris Keren, Pilar Caro, Christian P. Schaaf

Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2022, 188 (9), pp.2627-2636. ⟨10.1002/ajmg.a.62884⟩

International audience; We present the phenotypes of seven previously unreported patients with Marbach-Schaaf neurodevelopmental syndrome, all carrying the same recurrent heterozygous missense variant c.1003C>T (p.Arg335Trp) in PRKAR1B. Clinical feat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e06efeca202ca317987da1f92ad2ee67
https://doi.org/10.1002/ajmg.a.62884

Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism

Autor: Maria J. Guillen Sacoto, Joselito Sobreira, Muhammad Shuaib, Qandeel Zahra, Louisa Kalsner, Çağla Çakmak, Aslıhan Tolun, Sajid Malik, Mine Koprulu, Nara Sobreira

Publikováno v: Journal of Human Genetics. 65:1115-1123

We describe five members of a consanguineous Pakistani family (Family I) plus two affected children from families of different ethnic origins presenting with neurodevelopmental disorders with overlapping features. All affected individuals from famili

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::21ee5c57c00469fc6c9f113cb66a26e9
https://doi.org/10.1038/s10038-020-0812-0

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures

Autor: Marjan M. Weiss, Erica L. Macke, Lauren Gunderson, Shashidhar Pai, Richard E. Person, Eric W. Klee, Laura Davis-Keppen, Johanna M. van Hagen, Anne Slavotinek, Eva Morava, Lisa Ohden, Louisa Kalsner, Shuxi Liu, Yvonne G. Weber

Publikováno v: Slavotinek, A, van Hagen, J M, Kalsner, L, Pai, S, Davis-Keppen, L, Ohden, L, Weber, Y G, Macke, E L, Klee, E W, Morava, E, Gunderson, L, Person, R, Liu, S & Weiss, M 2020, ' Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures ', European Journal of Medical Genetics, vol. 63, no. 4, 103850 . https://doi.org/10.1016/j.ejmg.2020.103850
European Journal of Medical Genetics, 63(4):103850. Elsevier Masson SAS
European Journal of Medical Genetics, 63, 4, pp. 1-6
European Journal of Medical Genetics, 63, 1-6

The Jumonji domain containing 1C (JMJD1C) gene encodes the Jumonji domain-containing protein 1C (JMJD1C) and is a member of the jmJC domain-containing protein family involved in histone demethylation that is expressed in the brain. We report seven, u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4795da115a1f7f3f81e29bc584d03bbe
https://doi.org/10.1016/j.ejmg.2020.103850

Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications

Autor: Christine Stanley, Jennifer Twachtman-Bassett, Justin Cotney, Kristin Tokarski, Louisa Kalsner, Thyde Dumont-Mathieu, Stormy J. Chamberlain

Publikováno v: Molecular Genetics & Genomic Medicine

Background Genetic testing of children with autism spectrum disorder (ASD) is now standard in the clinical setting, with American College of Medical Genetics and Genomics (ACMGG) guidelines recommending microarray for all children, fragile X testing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6a0384422db90a0eb37d0f99002a2c4
http://europepmc.org/articles/PMC5902398

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder

Autor: Rolph Pfundt, Christel Depienne, Bregje W.M. van Bon, Gregory M. Cooper, David E. Gray, Kirsty McWalter, James M.J. Lawlor, Tuula Rinne, Louisa Kalsner, Pascal Joset, Jeremy W. Prokop, Susan M. Hiatt, Ruxandra Bachmann-Gagescu, Marlies Kempers, Cyril Mignot, E. Martina Bebin, Michelle L. Thompson, Ingrid M. Wentzensen, Caroline Nava, Anita Rauch

Publikováno v: American Journal of Human Genetics, 104, 701-708
American Journal of Human Genetics, 104, 4, pp. 701-708

Developmental delay and intellectual disability (DD and ID) are heterogeneous phenotypes that arise in many rare monogenic disorders. Because of this rarity, developing cohorts with enough individuals to robustly identify disease-associated genes is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8783abc9ad235747409b4027e655b0c
https://europepmc.org/articles/PMC6451696/