Lista de obras -

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

artículo científico publicado en 2013

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

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

scientific article published on 28 November 2019

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

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

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

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

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches

artículo científico publicado en 2008

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

artículo científico publicado en 2006

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome

artículo científico publicado en 2021

Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing