List of works - Frans P M Cremers

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

scientific article published in March 2004

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 homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa

scientific article published on 03 December 2009

A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease ⬇️

scientific article published on May 12, 2012

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

scientific article

A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.

scientific article published on 05 September 2009

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

scientific journal article

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

scientific article published in September 2005

Benchmarking deep learning splice prediction tools using functional splice assays

scientific article published on 20 May 2021

CLRN1 Mutations Cause Nonsyndromic Retinitis Pigmentosa ⬇️

scientific article published on February 18, 2011

CRB1 mutation spectrum in inherited retinal dystrophies

scientific article

Central areolar choroidal dystrophy associated with dominantly inherited drusen

scientific article

Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues

scientific journal article

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

scientific article

Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene

scientific article

Development of a genotyping microarray for Usher syndrome

scientific article published on 08 September 2006

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

scientific article

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

scientific article

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

scientific article

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

scientific article published on 01 August 2005

Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions

scientific article (publication date: July 2007)

Genomic approaches for the discovery of genes mutated in inherited retinal degeneration ⬇️

scientific article

Genomic structure and assessment of the retinally expressed RFamide-related peptide gene in dominant cystoid macular dystrophy

scientific article

Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

scientific article

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

scientific article

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 Novel Mutations in Pakistani Families With Autosomal Recessive Retinitis Pigmentosa ⬇️

scientific article published on 01 October 2011

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

scientific article

Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4

scientific article published on 03 September 2019

Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina

scientific article published on 01 May 2019

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

scientific article

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

scientific article published in July 2007

Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes

scientific article

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

scientific article

MPP5 recruits MPP4 to the CRB1 complex in photoreceptors

scientific article

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

scientific article

Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa ⬇️

scientific article published on December 15, 2010

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

scientific article published on April 2008

Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration

scientific article

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

scientific article published in November 2016

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

scientific journal article

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

scientific journal article

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy

scientific journal article

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

scientific article

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 gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

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 in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

scientific journal article

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

scientific article

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

scientific article

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.

scientific article published on 29 April 2010

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

scientific article

Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness

scientific article (publication date: 2 March 2005)

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

article

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

scientific article

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

scientific article published in September 2016

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

scientific article published on 20 April 2020

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.

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

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 RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases

scientific article (publication date: November 2014)

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

scientific article (publication date: 2004)

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy

scientific article published on 04 April 2019

The spectrum of phenotypes caused by variants in the CFH gene.

scientific article

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

scientific article published in August 2004

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

scientific article

List of works by Frans P M Cremers

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

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

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa

A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease ⬇️

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

A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

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

Benchmarking deep learning splice prediction tools using functional splice assays

CLRN1 Mutations Cause Nonsyndromic Retinitis Pigmentosa ⬇️

CRB1 mutation spectrum in inherited retinal dystrophies

Central areolar choroidal dystrophy associated with dominantly inherited drusen

Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene

Development of a genotyping microarray for Usher syndrome

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

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

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

Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions

Genomic approaches for the discovery of genes mutated in inherited retinal degeneration ⬇️

Genomic structure and assessment of the retinally expressed RFamide-related peptide gene in dominant cystoid macular dystrophy

Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

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

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

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

Identification of Novel Mutations in Pakistani Families With Autosomal Recessive Retinitis Pigmentosa ⬇️

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4

Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes

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

MPP5 recruits MPP4 to the CRB1 complex in photoreceptors

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa ⬇️

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

Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

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

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

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

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

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

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.

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

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

The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases

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

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy

The spectrum of phenotypes caused by variants in the CFH gene.

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

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