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
2021
Signaling Pathways and Sex Differential Processes in Autism Spectrum Disorder
Enriquez KD, Gupta AR, Hoffman EJ. Signaling Pathways and Sex Differential Processes in Autism Spectrum Disorder. Frontiers In Psychiatry 2021, 12: 716673. PMID: 34690830, PMCID: PMC8531220, DOI: 10.3389/fpsyt.2021.716673.Peer-Reviewed Original ResearchASD genetic studiesBiological pathwaysGenetic studiesRisk gene discoveryCellular pathways downstreamASD risk genesWhole-exome sequencing studiesCommon biological pathwaysGene discoveryPathways downstreamGene expressionSequencing studiesRisk genesMale biasPathwayGenesNeuronal communicationCommon pathwayPotential roleFemale protective effectNeurodevelopmental disordersRecent analysisTranscriptomicsGenomicsRecent investigations
2015
No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins
Murdoch JD, Gupta AR, Sanders SJ, Walker MF, Keaney J, Fernandez TV, Murtha MT, Anyanwu S, Ober GT, Raubeson MJ, DiLullo NM, Villa N, Waqar Z, Sullivan C, Gonzalez L, Willsey AJ, Choe SY, Neale BM, Daly MJ, State MW. No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins. PLOS Genetics 2015, 11: e1004852. PMID: 25621974, PMCID: PMC4306541, DOI: 10.1371/journal.pgen.1004852.Peer-Reviewed Original ResearchConceptsContactin-Associated ProteinSingle nucleotide variantsRelated gene familiesPoint mutationsLike-2Autism risk genesHeterozygous single-nucleotide variantsNumber variation analysisGene familyNext-generation sequencingSequence dataMolecular cytogeneticsRare point mutationsAssociation studiesHomozygosity mappingNucleotide variantsRisk genesRare heterozygous mutationsProteinHeterozygous point mutationMutationsGenesVariation analysisContactinHeterozygous mutations
2014
Rare deleterious mutations of the gene EFR3A in autism spectrum disorders
Gupta AR, Pirruccello M, Cheng F, Kang HJ, Fernandez TV, Baskin JM, Choi M, Liu L, Ercan-Sencicek AG, Murdoch JD, Klei L, Neale BM, Franjic D, Daly MJ, Lifton RP, De Camilli P, Zhao H, Šestan N, State MW. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Molecular Autism 2014, 5: 31. PMID: 24860643, PMCID: PMC4032628, DOI: 10.1186/2040-2392-5-31.Peer-Reviewed Original ResearchExperiment-wide significance thresholdDeleterious mutationsModules of genesNovel candidate genesRare deleterious mutationsCase/control association studySignificance thresholdASD-related genesProtein complexesDe novo mutationsCandidate genesVariety of functionsExpression patternsWhole-exome dataProtein structureAssociation studiesSequencing studiesNonsynonymous mutationsDeep resequencingControl association studySplice site variantConservation measuresSite variantsGenesHuman fetal brain development
2013
Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism
Willsey AJ, Sanders SJ, Li M, Dong S, Tebbenkamp AT, Muhle RA, Reilly SK, Lin L, Fertuzinhos S, Miller JA, Murtha MT, Bichsel C, Niu W, Cotney J, Ercan-Sencicek AG, Gockley J, Gupta AR, Han W, He X, Hoffman EJ, Klei L, Lei J, Liu W, Liu L, Lu C, Xu X, Zhu Y, Mane SM, Lein ES, Wei L, Noonan JP, Roeder K, Devlin B, Sestan N, State MW. Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism. Cell 2013, 155: 997-1007. PMID: 24267886, PMCID: PMC3995413, DOI: 10.1016/j.cell.2013.10.020.Peer-Reviewed Original ResearchConceptsCoexpression networkASD genesComplex developmental syndromeGenome-wide sequencingCortical projection neuronsHigh-confidence ASD genesExpression data setsPleiotropic genesSpecific genesDevelopmental processesDevelopmental syndromesSequencing studiesGenesProjection neuronsCell typesBrain regionsType mutationsCommon phenotypeASD pathophysiologyPathogenesis of autismAutism spectrum disorderMutationsHuman brain regionsUnknown etiologyRecent studies
2010
L-Histidine Decarboxylase and Tourette's Syndrome
Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW. L-Histidine Decarboxylase and Tourette's Syndrome. New England Journal Of Medicine 2010, 362: 1901-1908. PMID: 20445167, PMCID: PMC2894694, DOI: 10.1056/nejmoa0907006.Peer-Reviewed Original ResearchConceptsRare functional mutationsL-histidine decarboxylaseRate-limiting enzymeHDC geneTwo-generation pedigreeFunctional mutationsStrong genetic contributionHistamine biosynthesisAnalysis of linkageGenetic contributionModel systemRisk allelesDevelopmental neuropsychiatric disordersDecarboxylaseBiosynthesisGenesTourette syndromeMutationsAllelesEnzymeInheritanceNeuropsychiatric disordersPedigree