2018
Chapter 23 Tourette disorder and other tic disorders
Fernandez TV, State MW, Pittenger C. Chapter 23 Tourette disorder and other tic disorders. Handbook Of Clinical Neurology 2018, 147: 343-354. PMID: 29325623, DOI: 10.1016/b978-0-444-63233-3.00023-3.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsMeSH KeywordsGene-Environment InteractionHistidine DecarboxylaseHumansMembrane ProteinsNerve Tissue ProteinsTic DisordersTourette SyndromeConceptsAssociation studiesLarge-effect variantsCandidate gene association studiesGene association studiesGenomewide association studiesSubstantial genetic contributionMultiple genesDevelopmental neuropsychiatric conditionsComplex neuropsychiatric disorderGenetic variantsGenetic contributionRare mutationsTic disordersGenomewide significanceTourette's disorderGenesEnvironmental factorsAccumulated evidenceLarge patient cohortPatient cohortMotor ticsInadequate sample sizePositive findingsNeuropsychiatric conditionsNeuropsychiatric disorders
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