Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent

Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases

(2017) Xiaomei Luo et al.   JOURNAL OF HUMAN GENETICS

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing

(2016) Lan Qin et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

(2015) Akemi J. Tanaka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structure and function insights into the NuRD chromatin remodeling complex

(2015) Morgan P. Torchy et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms

(2014) Anand K. Srivastava et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

De Novo Mutations in Moderate or Severe Intellectual Disability

(2014) Fadi F. Hamdan et al.   PLoS Genetics

The NuRD architecture

(2013) Hillary F. Allen et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

263.4 kb deletion within the TCF4 gene consistent with Pitt–Hopkins syndrome, inherited from a mosaic parent with normal phenotype

(2013) Ludmila Kousoulidou et al.   European Journal of Medical Genetics

GATAD2Bloss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth inDrosophila

(2013) Marjolein H Willemsen et al.   JOURNAL OF MEDICAL GENETICS

Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome

(2012) CVM Steinbusch et al.   CLINICAL GENETICS

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

(2012) Andreas Rump et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE