2023
Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene
Fernandez T, Williams Z, Kline T, Rajendran S, Augustine F, Wright N, Sullivan C, Olfson E, Abdallah S, Liu W, Hoffman E, Gupta A, Singer H. Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene. PLOS ONE 2023, 18: e0291978. PMID: 37788244, PMCID: PMC10547198, DOI: 10.1371/journal.pone.0291978.Peer-Reviewed Original ResearchConceptsRisk genesDe novo damaging variantsGene expression patternsWhole-exome DNA sequencingMid-fetal developmentAdditional risk genesHigh-confidence risk genesParent-child triosGene OntologyCell signalingExpression patternsCalcium ion transportFunctional convergenceCell cycleDamaging variantsGenesDNA sequencingDe novoASD probandsGenetic etiologyBiological mechanismsSequencingDNANetwork analysisIon transport
2010
Progress in Cytogenetics: Implications for Child Psychopathology
Hoffman EJ, State MW. Progress in Cytogenetics: Implications for Child Psychopathology. Journal Of The American Academy Of Child & Adolescent Psychiatry 2010, 49: 736-751. PMID: 20643309, DOI: 10.1016/j.jaac.2010.03.016.Peer-Reviewed Original ResearchConceptsChromosomal structureHuman genetic variationSequence of DNAChromosomal variationMicroarray-based detectionGenetic variationGenetic basisMolecular cytogeneticsGenetic underpinningsMicroarray technologySynapse functionKey discoveriesStructural variationsRecent findingsUnaffected individualsChromosomal studiesCytogenetic investigationsDevelopmental neuropsychiatric disordersCytogeneticsLight microscopyChromosomesGeneticsDNADramatic increasePhenotype