Our knowledge of disease genes in neurological disorders is incomplete. With the aim of
closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous …

Genes disrupted in human microcephaly (meaning "small brain") define key regulators of
neural progenitor proliferation and cell-fate specification. In comparison, genes mutated in …

Background Intellectual disability (ID) is one of the most common forms of disability worldwide,
displaying a wide range of aetiologies and affecting nearly 2% of the global population. …

Objective To investigate the utility of autozygome analysis and exome sequencing in a
cohort of patients with suspected or confirmed mitochondrial encephalomyopathy. Methods …

Ehlers–Danlos syndrome (EDS) describes a group of clinical entities in which the connective
tissue, primarily that of the skin, joint and vessels, is abnormal, although the resulting …

Purpose Congenital microcephaly (CM) is an important birth defect with long term neurological
sequelae. We aimed to perform detailed phenotypic and genomic analysis of patients …

Purpose Establishing links between Mendelian phenotypes and genes enables the proper
interpretation of variants therein. Autozygome, a rich source of homozygous variants, has …

Background Klippel-Feil anomaly (KFA) can be seen in a number of syndromes. We describe
an apparently novel syndromic association with KFA. Methods Clinical phenotyping of two …

Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal
dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron …

Dominant SCN1B mutations are known to cause several epilepsy syndromes in humans.
Only 2 epilepsy patients to date have been reported to have recessive mutations in SCN1B as …