A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathyDISEASE MODELS & MECHANISMSIF3.32016-01-0119OAAI
Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent ModulesAMERICAN JOURNAL OF HUMAN GENETICSIF8.12016-01-01235OAAI
Age-related decreased inhibitory vs. excitatory gene expression in the adult autistic brainFRONTIERS IN NEUROSCIENCEIF3.22014-12-0813OAAI
Drosophila models of early onset cognitive disorders and their clinical applicationsNEUROSCIENCE AND BIOBEHAVIORAL REVIEWSIF7.92014-10-0159OAAI
Human Intellectual Disability Genes Form Conserved Functional Modules in DrosophilaPLOS GENETICSIF3.72013-10-3140OAAI
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in DrosophilaJOURNAL OF MEDICAL GENETICSIF3.72013-05-0466OAAI
CEP89 is required for mitochondrial metabolism and neuronal function in man and flyHUMAN MOLECULAR GENETICSIF3.22013-04-1035OAAI
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disordersHUMAN MOLECULAR GENETICSIF3.22013-02-05145OA
Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic ParaplegiaAMERICAN JOURNAL OF HUMAN GENETICSIF8.12012-12-01144OAAI
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