Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

Autor: Elke de Boer, Burcu Yaldiz, Anne-Sophie Denommé-Pichon, Leslie Matalonga, Steve Laurie, Wouter Steyaert, Rick de Reuver, Christian Gilissen, Michael Kwint, Rolph Pfundt, Alain Verloes, Michèl A.A.P. Willemsen, Bert B.A. de Vries, A. Vitobello, Tjitske Kleefstra, Lisenka E.L.M. Vissers, Enzo Cohen, Isabel Cuesta, Daniel Danis, Fei Gao, Rita Horvath, Mridul Johari, Lennart Johanson, Shuang Li, Heba Morsy, Isabelle Nelson, Ida Paramonov, Iris B.A.W. te Paske, Peter Robinson, Marco Savarese, Ana Töpf, Aurélien Trimouille, Joeri K. van der Velde, Jana Vandrovcova, Antonio Vitobello, Birte Zurek, Kristin M. Abbot, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Kornelia Ellwanger, Laurence Faivre, Holm Graessner, Tobias B. Haack, Anna Hammarsjö, Marketa Havlovicova, Alexander Hoischen, Anne Hugon, Adam Jackson, Mieke Kerstjens, Anna Lindstrand, Estrella López Martín, Milan Macek, Isabelle Maystadt, Manuela Morleo, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Michele Pinelli, Simone Pizzi, Manuel Posada, Francesca C. Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Gijs W.E. Santen, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Lisenka Vissers, Pavel Votypka, Klea Vyshka, Kristina Zguro

Publikováno v: European Journal of Medical Genetics, 65(1). ELSEVIER
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 1

Almost half of all individuals affected by intellectual disability (ID) remain undiagnosed. In the Solve-RD project, exome sequencing (ES) datasets from unresolved individuals with (syndromic) ID (n = 1,472 probands) are systematically reanalyzed, st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04ccb6aa76dc6f5b62a530f310d30c92
https://pubmed.ncbi.nlm.nih.gov/34863918

11q-syndrome: Three cases and a review of the literature

Autor: Leegte, B., Mieke Kerstjens, Deelstra, K., Begeer, J. H., Essen, A. J.

Publikováno v: Genetic counseling, 10(3), 305-313
Scopus-Elsevier

11q-syndrome: three cases and a review of the literature: We report on three children with de novo terminal deletions of the long arm of chromosome 11 (11q-) and breakpoints in 11q23-q24. Eighty-nine other patients with partial monosomy 11q have been

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::eb5c019c14c300819cab14160852c184
https://research.rug.nl/en/publications/6bbfa56c-6695-4708-9da6-94e544b32ae8

Recurrent and founder mutations in the Netherlands

Autor: Otten, E., Lekanne Dit Deprez, R. H., Weiss, M. M., Slegtenhorst, M., Joosten, M., Smagt, J. J., Jonge, N., Mieke Kerstjens, Roofthooft, M. T. R., Balk, A. H. M. M., Maarten van den Berg, Ruiter, J. S., Tintelen, J. P.

Publikováno v: University of Groningen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::68aa8d92eacfacc9d9dd4d0a7edb1b3b
https://research.rug.nl/en/publications/bedc8ba1-909b-49fb-9d82-252cada4f309