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The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance

Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability

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

A recurrent De Novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations

A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

FOXP1 mutations cause intellectual disability and a recognizable phenotype

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an Indigenous Australian family

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

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