Lista de obras -

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome

artículo científico publicado en 2005

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

artículo científico publicado en 2013

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

artículo científico publicado en 2014

A de novo paradigm for mental retardation.

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2006

A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation

artículo científico publicado en 2006

A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development

artículo científico publicado en 2007

Accurate distinction of pathogenic from benign CNVs in mental retardation

artículo científico publicado en 2010

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

artículo científico publicado en 2020

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

artículo científico publicado en 2013

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

artículo científico publicado en 2003

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

artículo científico publicado en 2011

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

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

artículo científico publicado en 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

artículo científico publicado en 2009

Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

artículo científico publicado en 2016

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

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

scientific article published on 01 September 2019

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

scientific journal article

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

artículo científico publicado en 2017

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

scientific article published on 27 February 2020

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

artículo científico publicado en 2019

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

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

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

artículo científico publicado en 2012

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

article by Alexander Hoischen et al published 26 June 2011 in Nature Genetics

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

Diagnostic genome profiling in mental retardation

artículo científico publicado en 2005

Disruptive CHD8 mutations define a subtype of autism early in development

artículo científico publicado en 2014

Duplications of SLC1A3: Associated with ADHD and autism

artículo científico publicado en 2016

Forging links between human mental retardation-associated CNVs and mouse gene knockout models

artículo científico publicado en 2009

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

artículo científico publicado en 2009

Further refinement of the candidate region for monosomy 9p syndrome

scientific article published on 01 October 2007

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Genome sequencing identifies major causes of severe intellectual disability

artículo científico publicado en 2014

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

scientific article published on March 2009

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

artículo científico publicado en 2009

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 2006

Homozygosity mapping in outbred families with mental retardation

artículo científico publicado en 2011

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

artículo científico publicado en 2013

Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders

artículo científico publicado en 2021

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.

artículo científico publicado en 2012

Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3.

artículo científico publicado en 2002

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

artículo científico publicado en 2016

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

artículo científico publicado en 2006

Low frequency of MECP2 mutations in mentally retarded males.

artículo científico publicado en 2002

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

artículo científico publicado en 2014

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

artículo científico publicado en 2004

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

artículo científico publicado en 2005

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

artículo científico publicado en 2009

Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.

artículo científico publicado en 2017

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

artículo científico publicado en 2007

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 DYNC1H1 cause severe intellectual disability with neuronal migration defects.

artículo científico publicado en 2012

Mutations in MED12 cause X-linked Ohdo syndrome

artículo científico publicado en 2013

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome

artículo científico publicado en 2002

Mutations in TITF-1 are associated with benign hereditary chorea

artículo científico publicado en 2002

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

artículo científico publicado en 2004

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

artículo científico publicado en 2012

NR2F1 mutations cause optic atrophy with intellectual disability.

artículo científico publicado en 2014

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

artículo científico publicado en 2018

Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.

artículo científico publicado en 2014

Novel genetic causes for cerebral visual impairment

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2021

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

artículo científico publicado en 2012

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

artículo científico publicado en 2008

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

artículo científico publicado en 2014

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

scientific journal article

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

scientific article published on 21 November 2020

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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

article

The Human Phenotype Ontology in 2017

artículo científico publicado en 2016

The Human Phenotype Ontology in 2024: phenotypes around the world

artículo científico publicado en 2023

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

artículo científico publicado en 2016

The graphical brain: Belief propagation and active inference

artículo científico publicado en 2017

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

artículo científico publicado en 2013

The phenotype of recurrent 10q22q23 deletions and duplications

artículo científico publicado en 2011

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

artículo científico publicado en 2022

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

artículo científico publicado en 2014

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

artículo científico publicado en 2012

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

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

artículo científico publicado en 2005

Lista de obras de

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

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

A de novo paradigm for mental retardation.

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 novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation

A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development

Accurate distinction of pathogenic from benign CNVs in mental retardation

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

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

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

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

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

Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

Clinical significance of de novo and inherited copy-number variation

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

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

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

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

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

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

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

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

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Diagnostic exome sequencing in persons with severe intellectual disability

Diagnostic genome profiling in mental retardation

Disruptive CHD8 mutations define a subtype of autism early in development

Duplications of SLC1A3: Associated with ADHD and autism

Forging links between human mental retardation-associated CNVs and mouse gene knockout models

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Further refinement of the candidate region for monosomy 9p syndrome

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

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 microarrays in mental retardation: a practical workflow for diagnostic applications

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

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

Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.

Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3.

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

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

Low frequency of MECP2 mutations in mentally retarded males.

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

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

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

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

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

Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

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 DYNC1H1 cause severe intellectual disability with neuronal migration defects.

Mutations in MED12 cause X-linked Ohdo syndrome

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome

Mutations in TITF-1 are associated with benign hereditary chorea

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

NR2F1 mutations cause optic atrophy with intellectual disability.

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.

Novel genetic causes for cerebral visual impairment

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

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

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

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

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

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes