Lista de obras -

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

artículo científico publicado en 2014

A novel MED12 mutation: Evidence for a fourth phenotype.

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

Clinical significance of de novo and inherited copy-number variation

artículo científico

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

Mutations in MED12 cause X-linked Ohdo syndrome

artículo científico publicado en 2013

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

artículo científico publicado en 2021

Pierpont syndrome: a collaborative study.

artículo científico publicado en 2011

Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Variants in CUL4B are associated with cerebral malformations

artículo científico publicado en 2015

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

artículo científico

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

artículo científico publicado en 2013

Lista de obras de

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