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Ronald J. E. Pennings | doi.page

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Ronald J. E. Pennings

Radboud University Nijmegen(NL)Radboud University Medical Center(NL)

Publications by Year

Research Areas

Hearing, Cochlea, Tinnitus, Genetics, Vestibular and auditory disorders, Hearing Loss and Rehabilitation, Ear Surgery and Otitis Media, Connexins and lens biology

Most-Cited Works

→ Eustachian tube dysfunction: consensus statement on definition, types, clinical presentation and diagnosis(2015)365 cited
→ 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(2004)200 cited
→ Mutational spectrum of theWFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease(2003)187 cited
→ The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands(2016)145 cited
→ Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations(2021)135 cited
→ Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation(2016)133 cited

→ Mutations in OTOGL , Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss(2012)

127 cited

→ Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa(2016)105 cited

→ Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment(2011)102 cited

→ Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment(2012)91 cited