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Disease Models & Mechanisms|January 26, 2011
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defectsVincent Runtuwene, Mark van Eekelen, John Overvoorde, et al.
Human Mutation|June 21, 2013
Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnosticsTessel Rigter, Lidewij Henneman, Ulf Kristoffersson, et al.
European Journal of Human Genetics : EJHG|October 7, 2018
1 in 38 individuals at risk of a dominant medically actionable diseaseLonneke Haer-Wigman, Vyne van der Schoot, Ilse Feenstra, et al.
American Journal of Medical Genetics|July 13, 2002
Expanding phenotype of XNP mutations: mild to moderate mental retardationHelger G Yntema, Francis A Poppelaars, Esther Derksen, et al.
European Journal of Human Genetics : EJHG|October 20, 2011
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndromeBob Glaudemans, Helger G Yntema, Pedro San-Cristobal, et al.
American Journal of Human Genetics|March 19, 2021
The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effectsHila Fridman, Helger G Yntema, Reedik Mägi, et al.
American Journal of Human Genetics|March 12, 2004
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type IIErwin van Wijk, Ronald J E Pennings, Heleen te Brinke, et al.
Molecular Genetics & Genomic Medicine|September 5, 2020
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndromeAmber Geerts-Haages, Stijn N V Bossuyt, Inge den Besten, et al.
European Journal of Human Genetics : EJHG|July 12, 2002
Low frequency of MECP2 mutations in mentally retarded malesHelger G Yntema, Tjitske Kleefstra, Astrid R Oudakker, et al.
Gene|September 22, 2012
Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversionFarmaditya E P Mundhofir, Dominique Smeets, Willy Nillesen, et al.
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