List of works - Ronald J E Pennings

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

scientific article published on 15 June 2016

AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9

scientific article published in 2021

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

scientific journal article

Audiologic performance and benefit of cochlear implantation in Usher syndrome type I.

scientific article published in May 2006

Cochleovestibular and ocular features in a Dutch DFNA11 family

scientific article published in April 2006

Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans

scientific article

Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.

scientific article published in April 2004

Genetic Hearing Loss Affects Cochlear Processing

scientific article published in 2022

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

scientific article published on 23 July 2011

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

scientific article published on 12 May 2018

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

scientific article published on 2 June 2004

Impact of cochlear implantation on the function of the three semicircular canals

scientific article published on 09 July 2020

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations

scientific article published on 9 April 2002

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

scientific article

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

scientific article

Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).

scientific article

Phenotypes of two Dutch DFNA3 families with mutations in GJB2.

scientific article published in March 2011

Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

scientific article published in April 2003

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

scientific article

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

scientific article published on 21 December 2016

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

scientific article published in August 2004

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

scientific article published in September 2004

Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers

scientific article

List of works by Ronald J E Pennings

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

AON-based degradation of c.151C&gt;T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

Audiologic performance and benefit of cochlear implantation in Usher syndrome type I.

Cochleovestibular and ocular features in a Dutch DFNA11 family

Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans

Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.

Genetic Hearing Loss Affects Cochlear Processing

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

Impact of cochlear implantation on the function of the three semicircular canals

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).

Phenotypes of two Dutch DFNA3 families with mutations in GJB2.

Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

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

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers

AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9