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Novel protein-truncating variants of a chromatin-modifying gene <i>MSL2</i> in syndromic neurodevelopmental disorders

Biallelic loss of function variants in <i>FUZ</i> result in an orofaciodigital syndrome

Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa

<i>COQ7</i> defect causes prenatal onset of mitochondrial CoQ<sub>10</sub> deficiency with cardiomyopathy and gastrointestinal obstruction

Novel insights into cancer predisposition genes

Negotiating severity behind the scenes: prenatal testing in Germany

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India

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