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List of works by Hannie Kremer

A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment

scientific article published in March 2004

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

scientific journal article

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

scientific article published on 18 October 2013

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss

scientific article published on 06 July 2020

A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family

scientific article published on 9 October 2014

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

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

scientific article published on 15 December 2016

A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment

scientific article

A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families

scientific article published on 19 November 2007

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation

scientific article

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells

scientific journal article

A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation

scientific article

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

scientific article published in 2021

Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain

scientific article

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

scientific journal article

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

scientific article

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

scientific journal article

Antisense Oligonucleotide Design and Evaluation of Splice-Modulating Properties Using Cell-Based Assays

scientific article published on 01 January 2018

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

scientific article

Association of Whirlin with Cav1.3 (α1D) Channels in Photoreceptors, Defining a Novel Member of the Usher Protein Network

scientific article published on 03 December 2009

Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment

scientific article published in September 2015

Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.

scientific article published in May 2009

Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.

scientific article published in March 2008

Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation

scientific article published in September 2005

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family

scientific article

BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy

scientific article

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment

scientific article published on 12 January 2017

CLRN1 Mutations Cause Nonsyndromic Retinitis Pigmentosa ⬇️

scientific article published on February 18, 2011

CiliaCarta: An Integrated And Validated Compendium Of Ciliary Genes

article

CiliaCarta: An integrated and validated compendium of ciliary genes

scientific article published on 16 May 2019

Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W

scientific article published on 06 December 2006

Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing

scientific article published on 07 May 2021

Cochleovestibular and ocular features in a Dutch DFNA11 family

scientific article published in April 2006

Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction

scientific article published on 15 February 2006

Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts

scientific article published on January 2006

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

scientific article published on 7 June 2011

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

scientific article published on 8 December 2018

Development of a genotyping microarray for Usher syndrome

scientific article published on 08 September 2006

Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina ⬇️

scientific article published on July 13, 2011

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy

scientific article

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores

scientific article

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

scientific article published in April 2004

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

scientific article published on 01 November 2018

Familial aggregation of pure tone hearing thresholds in an aging European population

scientific article published on July 2013

Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3.

scientific article published on 01 August 2005

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

article

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations

scientific article published in May 2005

GRM7 variants confer susceptibility to age-related hearing impairment

scientific article

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

scientific article

Genetics of Hearing Impairment

scientific article published in 2022

Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait

scientific article published on 28 August 2008

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

scientific article published on 23 July 2011

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. ⬇️

scientific article

Grxcr2 is required for stereocilia morphogenesis in the cochlea

scientific article published in PLoS ONE

Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations

scientific article

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

scientific article published on 12 May 2018

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

scientific article

Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa

scientific article published on 17 August 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

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

scientific article

Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)

scientific article published on 01 August 2006

Interfering with UDP-GlcNAc metabolism and heparan sulfate expression using a sugar analogue reduces angiogenesis

scientific article published on 03 September 2013

Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy

scientific article

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

scientific article published in July 2007

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

scientific article

Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations

scientific article published in July 2004

MPP1 links the Usher protein network and the Crumbs protein complex in the retina

scientific article

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

scientific article published on 28 June 2018

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.

scientific article

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

scientific article published on 25 June 2008

Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.

scientific article published in April 2009

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding

scientific article published on April 2008

Molecular diagnosis of hereditary hearing impairment

scientific article

Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing

scientific article

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

scientific article

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction

scientific article

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss

scientific article

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

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

scientific article published in July 2006

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

scientific article

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

scientific article

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment

scientific article

NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish

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

Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum

scientific article

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

scientific article

Novel gene discovery for hearing loss and other routes to increased diagnostic rates

scientific article published in 2021

Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

scientific article

Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: a European population-based multicenter study

scientific article

Phenotype description of a novel DFNA9/COCH mutation, I109T.

scientific article published in May 2007

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

scientific article

Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis

scientific article published on 8 March 2014

Poor Splice-Site Recognition in a Humanized Zebrafish Knockin Model for the Recurrent Deep-Intronic c.7595-2144A>G Mutation in USH2A

article

Positional cloning of deafness genes

scientific article published on January 2009

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

scientific article published in April 2003

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in <i>TMC1</i> ⬇️

scientific article published on June 26, 2010

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

scientific article

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

scientific article

SDHAF2 (PGL2-SDH5) and Hereditary Head and Neck Paraganglioma ⬇️

scientific article published on January 11, 2011

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2

scientific journal article

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

scientific article

Similar phenotypes caused by mutations in OTOG and OTOGL.

scientific article

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

scientific article published on 20 October 2015

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

scientific article

The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss

scientific article published in 2021

The benign concentric annular macular dystrophy locus maps to 6p12.3-q16

scientific article (publication date: 2004)

The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss

scientific article published in October 2007

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

scientific article published on 21 December 2016

The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment

scientific article published on 6 October 2007

The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitotically

scientific article published on 25 April 2012

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

scientific article published in August 2004

Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.

scientific article published on 30 September 2008

Usher syndrome: molecular links of pathogenesis, proteins and pathways

scientific article published on October 2006

Usherin defects lead to early-onset retinal dysfunction in zebrafish

scientific article published on 16 May 2018

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

scientific article published in September 2004

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

scientific article published on 05 October 2018

Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH.

scientific article published on 19 March 2007

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

scientific article

Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.

scientific article published on 15 April 2009

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

article

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

scientific article

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