List of works - Anneke T Vulto-van Silfhout

1 in 38 individuals at risk of a dominant medically actionable disease

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

scientific article

A novel MED12 mutation: Evidence for a fourth phenotype.

scientific article

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations

scientific article

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Clinical significance of de novo and inherited copy-number variation

scientific article published on 10 October 2013

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

scientific article published on 30 August 2013

Constraint and conservation of the paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance

scientific article published on 07 May 2020

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

scientific article published on 01 September 2019

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

scientific article

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

scientific article published on 28 March 2019

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

scientific article

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Diagnostic exome sequencing in persons with severe intellectual disability

article by Joep de Ligt et al published 15 November 2012 in The New England Journal of Medicine

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

scientific article published in 2022

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

scientific article published in 2023

Disruptive CHD8 mutations define a subtype of autism early in development

scientific article

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

scientific article

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

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

High yield of pathogenic germline mutations causative or likely causative of the cancer phenotype in selected children with cancer

scientific article published on 19 January 2018

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems

scientific journal article

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

scientific article

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

scientific article published on 11 October 2013

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

scientific article

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

scientific article published in May 2014

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

scientific article

Mutations in MED12 cause X-linked Ohdo syndrome

scientific article published on 7 February 2013

Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders

scientific article published on 30 November 2021

Pierpont syndrome: a collaborative study.

scientific article published on 10 August 2011

Quantification of Phenotype Information Aids the Identification of Novel Disease Genes

scientific article published on 2 February 2017

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

scientific article

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

scientific article

Severe Positional Central Sleep Apnea in an Asymptomatic Adult With a PHOX2B Frameshift Mutation

scientific article published on 15 August 2018

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

article

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

scientific article (publication date: 2014)

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

scientific article

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

scientific article

Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3.

scientific article

Variants in CUL4B are associated with cerebral malformations

scientific article

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

scientific article published on June 2017

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase

scientific article published on 25 April 2013

List of works by Anneke T Vulto-van Silfhout

1 in 38 individuals at risk of a dominant medically actionable disease

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

A novel MED12 mutation: Evidence for a fourth phenotype.

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Clinical significance of de novo and inherited copy-number variation

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

Constraint and conservation of the paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance

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

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

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

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Diagnostic exome sequencing in persons with severe intellectual disability

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Disruptive CHD8 mutations define a subtype of autism early in development

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

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

High yield of pathogenic germline mutations causative or likely causative of the cancer phenotype in selected children with cancer

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

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

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

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

Mutations in MED12 cause X-linked Ohdo syndrome

Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders

Pierpont syndrome: a collaborative study.

Quantification of Phenotype Information Aids the Identification of Novel Disease Genes

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

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

Severe Positional Central Sleep Apnea in an Asymptomatic Adult With a PHOX2B Frameshift Mutation

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

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

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

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3.

Variants in CUL4B are associated with cerebral malformations

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase