Lista de obras -

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

artículo científico publicado en 2014

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

artículo científico publicado en 2014

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.

artículo científico publicado en 2015

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

artículo científico publicado en 2017

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

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

artículo científico publicado en 2017

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

scientific journal article

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

artículo científico publicado en 2014

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

Determining the severity of atopic dermatitis in children presenting in general practice: an easy and fast method.

artículo científico publicado en 2009

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

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

artículo científico publicado en 2016

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12

artículo científico publicado en 2020

Females with PDHA1 gene mutations: a diagnostic challenge.

artículo científico publicado en 2006

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

artículo científico publicado en 2017

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

artículo científico publicado en 2015

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

artículo científico publicado en 2014

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

Genome sequencing identifies major causes of severe intellectual disability

artículo científico publicado en 2014

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

scientific journal article

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

artículo científico publicado en 2011

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

artículo científico publicado en 2012

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

artículo científico publicado en 2012

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

scientific article published on May 2013

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

artículo científico publicado en 2014

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

artículo científico publicado en 2017

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

artículo científico publicado en 2016

The Effectiveness of Treatments for Patients With Medication Overuse Headache: A Systematic Review and Meta-Analysis

artículo científico publicado en 2016

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

Lista de obras de

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

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

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.

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

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

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

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

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

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

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

Determining the severity of atopic dermatitis in children presenting in general practice: an easy and fast method.

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Diagnostic exome sequencing in persons with severe intellectual disability

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

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

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

Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12

Females with PDHA1 gene mutations: a diagnostic challenge.

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

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

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

Genome sequencing identifies major causes of severe intellectual disability

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

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

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

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.

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

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

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

The Effectiveness of Treatments for Patients With Medication Overuse Headache: A Systematic Review and Meta-Analysis

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