Objective To identify novel epilepsy genes using a panel approach and describe the functional
consequences of mutations. Methods Using a panel approach, we screened 357 patients …

Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of
blindness. They result from mutations in many genes which has long hampered comprehensive …

Background We aimed for a comprehensive delineation of genetic, functional and phenotypic
aspects of GRIN2B encephalopathy and explored potential prospects of personalised …

Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed
osseous maturation, expressive-language deficits, and a distinctive facial appearance. …

Alterations of the N-methyl-d-aspartate receptor (NMDAR) subunit GluN2A, encoded by
GRIN2A, have been associated with a spectrum of neurodevelopmental disorders with …

We report detailed functional analyses and genotype-phenotype correlations in 392 individuals
carrying disease-causing variants in SCN8A, encoding the voltage-gated Na + channel …

Background Germline mutations in the BRIP1 gene have been described as conferring a
moderate risk for ovarian cancer (OC), while the role of BRIP1 in breast cancer (BC) …

Epilepsy genetics is a rapidly developing field, in which novel disease‐associated genes,
novel mechanisms associated with epilepsy, and precision medicine approaches are …

Translocations are chromosomal rearrangements that are frequently associated with a variety
of disease states and developmental disorders. We identified 2 families with brachydactyly …

A potential link between GABRD encoding the δ subunit of extrasynaptic GABA A receptors
and neurodevelopmental disorders has largely been disregarded due to conflicting …