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Genomic Disorders NijmegenWebsite from the Genomic Disorders Group Nijmegen.
http://www.genomicdisorders.nl/
Website from the Genomic Disorders Group Nijmegen.
http://www.genomicdisorders.nl/
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Genomic Disorders Nijmegen | genomicdisorders.nl Reviews
https://genomicdisorders.nl
Website from the Genomic Disorders Group Nijmegen.
genomicdisorders.nl
Genomic Disorders Nijmegen
http://www.genomicdisorders.nl/2015
Software and Data Sharing. TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. Ba W, Yan Y, Reijnders MR, Schuurs-Hoeijmakers JH, Feenstra I, Bongers EM, Bosch DG, De Leeuw N, Pfundt R, Gilissen C, De Vries PF, Veltman JA, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Nadif Kasri N, De Vries BB. Hum Mol Genet. 2015 Dec 31. pii: ddv618. [Epub ahead of print]. Meijerink AM, Ramos L, Fleischer K, Veltman JA, Hendriks JC, Braat DD.
Genomic Disorders Nijmegen
http://www.genomicdisorders.nl/missionvision
Software and Data Sharing. The Genomics Disorders Group is part of the Department of Human Genetics of the Radboudumc, one of the largest departments of human genetics in Europe. Our group has a long standing interest in using state-of-the-art genomics technologies and bioinformatics approaches to detect and interpret rare genomic variation in disease, with a particular focus on. Understanding the genetic causes of severe early-onset disorders such as intellectual disability.
Genomic Disorders Nijmegen
http://www.genomicdisorders.nl/2014
Software and Data Sharing. The diagnostic pathway in complex paediatric neurology: A cost analysis. Van Nimwegen KJ1, Schieving JH2, Willemsen MA3, Veltman JA4, van der Burg S5, van der Wilt GJ6, Grutters JP7. Eur J Paediatr Neurol. 2014 Dec 29. pii: S1090-3798(14)00216-5. doi: 10.1016/j.ejpn.2014.12.014. [Epub ahead of print]. Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder. Genome Biol. 2014 Oct 28;15(10):488. [Epub ahead of print]. Köhler S1, S...
Genomic Disorders Nijmegen
http://www.genomicdisorders.nl/employees
Software and Data Sharing. Peer Arts B.Sc. 080;eer.Arts@radboudumc.nl. 31 (0)24 36 14939. Christian Gilissen Ph.D. 067;hristian.Gilissen@radboudumc.nl. 31 (0)24 36 68160. Jayne Hehir-Kwa Ph.D. 074;ayne.Hehir-Kwa@radboudumc.nl. 31 (0)24 36 13864. Alexander Hoischen Ph.D. 065;lexander.Hoischen@radboudumc.nl. 31 (0)24 36 19639. Djie Tjwan Thung B.Sc. 31 (0)24 36 13864. Michael Kwint B.Sc. 31 (0)24 36 17599. Rick de Reuver B.Sc. 31 (0)24 36 68160. Marisol del Rosario B.Sc. 31 (0)24 36 68160. 31 (0)24 36 17599.
Genomic Disorders Nijmegen
http://www.genomicdisorders.nl/overview
Software and Data Sharing. Causes and consequences of de novo. Mutations in intellectual disability and male infertility. In this VICI application we will investigate the effect of de novo. Non-coding mutations. Read more. Defining the role of genetic burden in intellectual disability. This research project focuses on how the combinations of genetic mutations can result in Intellectual Disability. Read more. Whole genome or exome sequencing approaches have recently emerged as excellent discovery tools...
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Genomic Disorders Nijmegen
Software and Data Sharing. Nijmegen City of Genomics". Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nature Neuroscience - 2016, August 1. Parent-of-origin-specific signatures of de novo mutations. Nature Genetics - 2016, June 20.
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