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Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardationMutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problemsMutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanDisruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar SyndromeMutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanWNT5A mutations in patients with autosomal dominant Robinow syndromeOFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinA C-terminal inhibitory domain controls the activity of p63 by an intramolecular mechanism.Arts syndrome is caused by loss-of-function mutations in PRPS1Mutations in the human TBX4 gene cause small patella syndrome.SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorderMutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiencyMutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeA systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationSplitting p63Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndromeLoss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndromeExome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and miceNovel genetic loci underlying human intracranial volume identified through genome-wide associationHuman ISPD Is a Cytidyltransferase Required for Dystroglycan O-MannosylationMutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationFeingold syndrome: clinical review and genetic mappingARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardationVariants in CUL4B are associated with cerebral malformationsMutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusSpectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)Expanding the clinical spectrum of MYCN-related Feingold syndromeSequence analysis of the PLEXIN-D1 gene in Möbius syndrome patientsAutosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylationHomozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problemsX-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3Role of p63 and the Notch pathway in cochlea development and sensorineural deafnessCommon genetic variants influence human subcortical brain structuresNovel genetic loci associated with hippocampal volume.
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Hans van Bokhoven
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Hans van Bokhoven
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