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Human Mutation|March 27, 2010
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDPKonstantinos Nikopoulos, Hanka Venselaar, Rob W J Collin, et al.
International Journal of Molecular Sciences|July 2, 2021
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP CasesJanine Reurink, Adrian Dockery, Dominika Oziębło, et al.
Plos Genetics|February 23, 2016
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer SusceptibilityRicharda M de Voer, Marc-Manuel Hahn, Robbert D A Weren, et al.
Human Mutation|September 15, 2017
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathySaskia B Wortmann, Sharita Timal, Hanka Venselaar, et al.
American Journal of Human Genetics|February 24, 2015
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problemsZafar Iqbal, Marjolein H Willemsen, Marie-Amélie Papon, et al.
American Journal of Human Genetics|November 7, 2017
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain PhenotypeIdeke J C Lamers, Margot R F Reijnders, Hanka Venselaar, et al.
NPJ Genomic Medicine|June 7, 2022
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variantJanine Reurink, Erik de Vrieze, Catherina H Z Li, et al.
Circulation Research|January 19, 2018
Mutations in CYB561 Causing a Novel Orthostatic Hypotension SyndromeMaarten P van den Berg, Rowida Almomani, Italo Biaggioni, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|April 25, 2021
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutationsKalyan Dulla, Ralph Slijkerman, Hester C van Diepen, et al.
Nature Genetics|December 20, 2017
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosisArjan Pol, G Herma Renkema, Albert Tangerman, et al.
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