List of works - Rolph Pfundt

A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability.

scientific article

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

scientific article published on 23 March 2017

A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability

scientific article published on 07 October 2020

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.

scientific article published on 6 October 2015

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

scientific article published on 5 December 2017

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

scientific article

A simple technique for high-throughput screening of drugs that modulate normal and psoriasis-like differentiation in cultured human keratinocytes

scientific article

Absence of heterozygosity due to template switching during replicative rearrangements

scientific article

Accurate distinction of pathogenic from benign CNVs in mental retardation

scientific article

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

scientific article published on 22 December 2017

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

scientific article published on 30 January 2020

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

scientific journal article

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

scientific article

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

scientific article

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

scientific article published in June 2008

Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects

scientific article published on 19 March 2009

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

scientific article published on 27 January 2016

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

scientific article

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

scientific article published on 18 March 2017

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

scientific article

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

scientific article

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

scientific article published on 17 September 2018

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

Detection of clinically relevant copy number variants with whole-exome sequencing

scientific article

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

scientific article published on 27 October 2016

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

scientific article

Diagnostic genome profiling in mental retardation

scientific article

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

scientific article published on March 2016

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

scientific article

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Evidence for 28 genetic disorders discovered by combining healthcare and research data

scientific article published on 14 October 2020

Exome sequencing identifies three novel candidate genes implicated in intellectual disability

scientific article

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

scientific article published on 20 December 2018

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

scientific article published on 25 October 2017

Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome

scientific article

Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.

scientific article published on 17 March 2015

Genome sequencing identifies major causes of severe intellectual disability

scientific article

Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene

scientific article

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

scientific article published on 11 July 2016

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.

scientific article

Homozygosity mapping in outbred families with mental retardation

scientific article

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder

scientific journal article

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

scientific article

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

scientific article published on 11 October 2013

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

scientific article

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

scientific article published in August 2016

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

article

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

scientific article

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study

scientific article published in July 2009

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy ⬇️

scientific article published on December 29, 2010

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

scientific article

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

scientific article published on 29 April 2019

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies ⬇️

scientific article published on 6 March 2017

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

scientific article (publication date: 4 September 2014)

Next generation sequencing in synovial sarcoma reveals novel gene mutations

scientific article published on 22 September 2015

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

scientific article published on 19 October 2011

Novel genetic causes for cerebral visual impairment

scientific article

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

scientific article published on 10 March 2016

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

scientific article published on 14 September 2011

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

scientific article

Phenotypic and molecular insights into CASK-related disorders in males

scientific article published on 12 April 2015

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

scientific article published in December 2014

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

scientific article

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

scientific article published on 01 March 2010

Reduced purifying selection prevails over positive selection in human copy number variant evolution

scientific article (publication date: November 2008)

Refining analyses of copy number variation identifies specific genes associated with developmental delay

scientific article

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

scientific article

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study

scientific article

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

scientific article published on 31 December 2015

Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review

scientific article published on October 2007

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

scientific article

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scientific article

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

scientific article published on 26 August 2015

The clustering of functionally related genes contributes to CNV-mediated disease

scientific article

The phenotype of recurrent 10q22q23 deletions and duplications

scientific article

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

scientific article published on 9 April 2018

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

scientific article published in July 2017

List of works by Rolph Pfundt

A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability.

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

A simple technique for high-throughput screening of drugs that modulate normal and psoriasis-like differentiation in cultured human keratinocytes

Absence of heterozygosity due to template switching during replicative rearrangements

Accurate distinction of pathogenic from benign CNVs in mental retardation

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

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

Detection of clinically relevant copy number variants with whole-exome sequencing

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Diagnostic genome profiling in mental retardation

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

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

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Exome sequencing identifies three novel candidate genes implicated in intellectual disability

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome

Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.

Genome sequencing identifies major causes of severe intellectual disability

Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.

Homozygosity mapping in outbred families with mental retardation

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy ⬇️

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies ⬇️

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

Next generation sequencing in synovial sarcoma reveals novel gene mutations

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

Novel genetic causes for cerebral visual impairment

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

Phenotypic and molecular insights into CASK-related disorders in males

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

Reduced purifying selection prevails over positive selection in human copy number variant evolution

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

The clustering of functionally related genes contributes to CNV-mediated disease