Lista de obras -

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

artículo científico publicado en 2013

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

artículo científico publicado en 2013

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

artículo científico publicado en 2010

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

artículo científico publicado en 2012

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

scientific journal article

Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration

artículo científico publicado en 2015

Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.

artículo científico publicado en 2011

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

artículo científico publicado en 2006

Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family

artículo científico publicado en 2011

Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome.

artículo científico publicado en 2013

CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects

scientific article published on 24 September 2014

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

artículo científico publicado en 2010

Clinical and genetic characteristics of late-onset Stargardt's disease

artículo científico publicado en 2012

Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy

artículo científico publicado en 2009

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

artículo científico publicado en 2006

Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene.

artículo científico publicado en 2012

Clinical utility gene card for: CHARGE syndrome

artículo científico publicado en 2011

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

artículo científico publicado en 2012

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

Development of a genotyping microarray for Usher syndrome

artículo científico publicado en 2006

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

artículo científico publicado en 2017

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

artículo científico publicado en 2013

Early-onset stargardt disease: phenotypic and genotypic characteristics

scientific article published on 17 October 2014

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration

artículo científico publicado en 2014

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome

artículo científico publicado en 2008

Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability

artículo científico publicado en 2008

Foveal sparing in Stargardt disease.

artículo científico publicado en 2014

GJB2 mutations and degree of hearing loss: a multicenter study

artículo científico publicado en 2005

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

artículo científico publicado en 2011

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

artículo científico publicado en 2005

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

artículo científico publicado en 2005

Hearing loss and connexin 26.

artículo científico publicado en 2002

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2004

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

scientific article published on 01 August 2006

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man

artículo científico publicado en 2008

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

artículo científico publicado en 2007

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

artículo científico publicado en 2012

Kallmann syndrome and paranoid schizophrenia: a rare combination

artículo científico publicado en 2013

Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype

artículo científico publicado en 2007

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

artículo científico publicado en 2004

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

artículo científico publicado en 2012

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

article

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.

artículo científico publicado en 2009

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

artículo científico publicado en 2008

Molecular diagnosis of hereditary hearing impairment

artículo científico publicado en 2002

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.

artículo científico publicado en 2011

Molecular studies of the CHD7 gene: an obligatory diagnostic step in an expanding range of clinical phenotypes

artículo científico publicado en 2012

Mutation update on the CHD7 gene involved in CHARGE syndrome

artículo científico publicado en 2012

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

artículo científico publicado en 2010

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

artículo científico publicado en 2010

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

artículo científico publicado en 2002

Mutations in the human TBX4 gene cause small patella syndrome

artículo científico publicado en 2004

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

artículo científico publicado en 2006

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa

artículo científico publicado en 2013

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Next Generation Genetic Testing for Retinitis Pigmentosa

Next-generation genetic testing for retinitis pigmentosa

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

artículo científico publicado en 2011

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

article

Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene

artículo científico publicado en 2003

Outcome of ABCA4 microarray screening in routine clinical practice

artículo científico publicado en 2009

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

artículo científico publicado en 2010

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

artículo científico publicado en 2007

Phenotypes of two Dutch DFNA3 families with mutations in GJB2.

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations

artículo científico publicado en 2011

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

artículo científico publicado el 11 de enero de 2011

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

artículo científico publicado en 2010

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

artículo científico publicado en 2010

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

artículo científico publicado en 2013

TRPC6 single nucleotide polymorphisms and progression of idiopathic membranous nephropathy

artículo científico publicado en 2014

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

artículo científico publicado en 2006

The cardiac phenotype in patients with a CHD7 mutation.

artículo científico publicado en 2013

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

artículo científico publicado en 2016

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice

artículo científico publicado en 2015

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

artículo científico publicado en 2013

The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome

artículo científico publicado en 2012

Two sibs with Bardet–Biedl syndrome due to mutations in BBS12: No clues for modulation by a third mutation in BBS10 ⬇️

artículo científico publicado el 1 de octubre de 2010

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

artículo científico publicado en 2004

Lista de obras de

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

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

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

Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration

Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.

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

Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family

Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome.

CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

Clinical and genetic characteristics of late-onset Stargardt's disease

Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy

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

Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene.

Clinical utility gene card for: CHARGE syndrome

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

Development of a genotyping microarray for Usher syndrome

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

Early-onset stargardt disease: phenotypic and genotypic characteristics

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome

Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability

Foveal sparing in Stargardt disease.

GJB2 mutations and degree of hearing loss: a multicenter study

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

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

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

Hearing loss and connexin 26.

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

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

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

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

Kallmann syndrome and paranoid schizophrenia: a rare combination

Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype

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

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.

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

Molecular diagnosis of hereditary hearing impairment

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.

Molecular studies of the CHD7 gene: an obligatory diagnostic step in an expanding range of clinical phenotypes

Mutation update on the CHD7 gene involved in CHARGE syndrome

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

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

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

Mutations in the human TBX4 gene cause small patella syndrome

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

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

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

Next Generation Genetic Testing for Retinitis Pigmentosa

Next-generation genetic testing for retinitis pigmentosa

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

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

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

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

Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene

Outcome of ABCA4 microarray screening in routine clinical practice

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

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

Phenotypes of two Dutch DFNA3 families with mutations in GJB2.

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

Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations

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

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

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

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

TRPC6 single nucleotide polymorphisms and progression of idiopathic membranous nephropathy

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

The cardiac phenotype in patients with a CHD7 mutation.

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