2019
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies
Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E, Bax DA, Ciolfi A, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L, Dobyns WB, Mohammed AA, Clokie SJH, Seco C, Jiang YH, Sørensen KP, Andersen H, Sullivan J, Powis Z, Chassevent A, Smith-Hicks C, Petrovski S, Antoniadi T, Shashi V, Gelb BD, Wilson SW, Gerrelli D, Tartaglia M, Chassaing N, Calvas P, Ragge NK. De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. American Journal Of Human Genetics 2019, 105: 640-657. PMID: 31402090, PMCID: PMC6731360, DOI: 10.1016/j.ajhg.2019.07.005.Peer-Reviewed Original ResearchConceptsF-box (SCF) ubiquitin ligase complexF-box proteinsMultiple developmental processesPectoral fin developmentSubstrate-binding domainUbiquitin ligase complexGli transcription factorsHuman developmental disordersSecond-generation sequencingDe novo missense variantsWhole-genome sequencingSkp1-CullinDevelopmental phenotypesLigase complexFin developmentResidue clustersTranscription factorsProteasomal degradationEye developmentNovo missense variantsDevelopmental processesFBXW11Genome sequencingEmbryonic tissuesUnderdeveloped eyes
2004
Autism as a disorder of neural information processing: directions for research and targets for therapy
Belmonte MK, Cook EH, Anderson GM, Rubenstein JL, Greenough WT, Beckel-Mitchener A, Courchesne E, Boulanger LM, Powell SB, Levitt PR, Perry EK, Jiang YH, DeLorey TM, Tierney E. Autism as a disorder of neural information processing: directions for research and targets for therapy. Molecular Psychiatry 2004, 9: 646-663. PMID: 15037868, DOI: 10.1038/sj.mp.4001499.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderNormal developmental courseNeural information processingBrain developmentSpectrum disorderBehavioral findingsDevelopmental courseComplex behavioral syndromeNeural systemsInformation processingAutismBehavioral manipulationMultiple predisposing factorsDevelopmental pathCommon developmental pathNeural propertiesCausal factorsBehavioral syndromeAbnormal brain developmentDevelopmental processesCognitionActivity-dependent developmentDisordersComplex waysEndophenotypes