Level of sense-making in children with autistic disorder and intellectual disability: Patterns of delay and deviance in development KU Leuven
An heuristic filtering tool to identify phenotype-associated genetic variants applied to human intellectual disability and canine coat colors Ghent University
A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations KU Leuven
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Vrije Universiteit Brussel
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia University of Antwerp
Progressive deafness-dystonia due to SERAC1 mutations - a study of 67 cases Vrije Universiteit Brussel KU Leuven
OBJECTIVE: 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1.
METHODS: Multi centre study concerning the course of disease for each organ system, together with metabolic, neuroradiological and genetic findings.
RESULTS: 67 individuals (39 previously unreported) from 59 families were included (age range 5 days - 33.4 years, ...