List of works - Hannie Kremer

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

scientific article

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

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

scientific journal article

Usher syndrome: molecular links of pathogenesis, proteins and pathways

scientific article published on October 2006

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

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

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

scientific article

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

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

scientific journal article

GRM7 variants confer susceptibility to age-related hearing impairment

scientific article

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

scientific article published on 6 October 2007

Development of a genotyping microarray for Usher syndrome

scientific article published on 08 September 2006

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

scientific article

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

scientific article published on January 11, 2011

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

scientific article published on 15 February 2006

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

scientific article

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

scientific article

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

scientific article

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

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

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

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

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

scientific article

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

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

scientific article

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

scientific article

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

scientific article

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

scientific article published in July 2007

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

scientific article published on April 2008

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

scientific article published on 7 June 2011

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

scientific article published in August 2004

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

scientific article

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

scientific article published on 23 July 2011

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

scientific article

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

scientific article

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

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

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

scientific article

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

scientific article

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

scientific article

CLRN1 Mutations Cause Nonsyndromic Retinitis Pigmentosa

scientific article published on February 18, 2011

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

scientific article published on 19 November 2007

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

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

scientific article published in July 2006

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

scientific article

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

scientific article

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

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

scientific article published on 20 October 2015

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

scientific article published on 01 November 2018

List of works by Hannie Kremer

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

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

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

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

Usher syndrome: molecular links of pathogenesis, proteins and pathways

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

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

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

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

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

GRM7 variants confer susceptibility to age-related hearing impairment

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

Development of a genotyping microarray for Usher syndrome

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

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

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

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

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

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

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

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

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

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

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

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

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

CLRN1 Mutations Cause Nonsyndromic Retinitis Pigmentosa

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

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

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

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

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

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

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

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