Lista de obras -

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

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

artículo científico publicado en 2011

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis ⬇️

artículo científico publicado el 2 de febrero de 2011

Cantú syndrome is caused by mutations in ABCC9.

artículo científico publicado en 2012

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

artículo científico publicado en 2017

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

artículo científico publicado en 2012

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

artículo científico publicado en 2010

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

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

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

artículo científico publicado en 2009

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

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

artículo científico publicado en 2013

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

scientific journal article

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

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

scientific journal article

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

Lista de obras de

A de novo paradigm for mental retardation.

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

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis ⬇️

Cantú syndrome is caused by mutations in ABCC9.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

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

De novo mutations of SETBP1 cause Schinzel-Giedion 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

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

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

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

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

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

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

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

Mutations in MED12 cause X-linked Ohdo syndrome

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

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

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

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

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

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