Ronald J. E. Pennings

Eustachian tube dysfunction: consensus statement on definition, types, clinical presentation and diagnosis

Anne GM Schilder, Mahmood F. Bhutta, Christopher Butler et al. · Clinical Otolaryngology · 2015 · 382 citations · Full text

Medicine, Translational Sciences, Clinical Medicine +12

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 II

Erwin van Wijk, Ronald J. E. Pennings, Heleen te Brinke et al. · The American Journal of Human Genetics · 2004 · 202 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra et al. · European Journal of Human Genetics · 2016 · 148 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations

Kalyan Dulla, Ralph Slijkerman, Hester C. van Diepen et al. · Molecular Therapy · 2021 · 142 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

Radulfus WN Slijkerman, Christel Vaché, Margo Dona et al. · Molecular Therapy — Nucleic Acids · 2016 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13