2020
Empiric Recurrence Risk Estimates for Chronic Tic Disorders: Implications for Genetic Counseling
Heiman GA, Rispoli J, Seymour C, Leckman JF, King RA, Fernandez TV. Empiric Recurrence Risk Estimates for Chronic Tic Disorders: Implications for Genetic Counseling. Frontiers In Neurology 2020, 11: 770. PMID: 32849224, PMCID: PMC7432137, DOI: 10.3389/fneur.2020.00770.Peer-Reviewed Original ResearchChronic tic disorderRecurrence risk estimatesTic disordersRecurrence riskTourette's disorderRisk estimatesNeuropsychiatric disordersPopulation-based family studyGenetic counselingFirst-degree relativesQuality of lifeFamily studiesVocal ticsPopulation prevalenceFamilial recurrence riskSuch counselingGenetic testingDisordersRiskCounselingEmpiric recurrence riskGenetic variantsRange of risksHeterogeneous genetic architectureComorbidities
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 StatementsConceptsAssociation 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
2017
Extended-Release Guanfacine Does Not Show a Large Effect on Tic Severity in Children with Chronic Tic Disorders
Murphy TK, Fernandez TV, Coffey BJ, Rahman O, Gavaletz A, Hanks CE, Tillberg CS, Gomez LI, Sukhodolsky DG, Katsovich L, Scahill L. Extended-Release Guanfacine Does Not Show a Large Effect on Tic Severity in Children with Chronic Tic Disorders. Journal Of Child And Adolescent Psychopharmacology 2017, 27: 762-770. PMID: 28723227, DOI: 10.1089/cap.2017.0024.Peer-Reviewed Original ResearchConceptsExtended-release guanfacineLack of efficacyChronic tic disorderGuanfacine groupPlacebo groupYGTSS total scoreAdverse eventsTotal scoreTic disordersYale Global Tic Severity Scale total scoreClinical Global Impressions-Improvement scaleCommon adverse eventsPlacebo-controlled trialKey secondary outcomesPrimary outcome measureLarger efficacy trialScale total scoreDry mouthSecondary outcomesPreliminary efficacyWeek 8Efficacy trialsOutcome measuresTic severityTourette's disorderDe Novo Coding Variants Are Strongly Associated with Tourette Disorder
Willsey AJ, Fernandez TV, Yu D, King RA, Dietrich A, Xing J, Sanders SJ, Mandell JD, Huang AY, Richer P, Smith L, Dong S, Samocha KE, Genetics T, Abdulkadir M, Bohnenpoll J, Bromberg Y, Brown L, Cheon K, Coffey B, Deng L, Dietrich A, Dong S, Elzerman L, Fernandez T, Fründt O, Garcia-Delgar B, Gedvilaite E, Gilbert D, Grice D, Hagstrøm J, Hedderly T, Heiman G, Heyman I, Hoekstra P, Hong H, Huyser C, Ibanez-Gomez L, Kim Y, Kim Y, King R, Koh Y, Kook S, Kuperman S, Lamerz A, Leventhal B, Ludolph A, da Silva C, Madruga-Garrido M, Mandell J, Maras A, Mir P, Morer A, Münchau A, Murphy T, Nasello C, Openneer T, Plessen K, Richer P, Roessner V, Sanders S, Shin E, Sival D, Smith L, Song D, Song J, State M, Stolte A, Sun N, Tischfield J, Tübing J, Visscher F, Walker M, Wanderer S, Wang S, Willsey A, Woods M, Xing J, Zhang Y, Zhou A, Zinner S, Genetics T, Barr C, Batterson J, Berlin C, Bruun R, Budman C, Cath D, Chouinard S, Coppola G, Cox N, Darrow S, Davis L, Dion Y, Freimer N, Grados M, Hirschtritt M, Huang A, Illmann C, Kurlan R, Leckman J, Lyon G, Malaty I, Mathews C, MaMahon W, Neale B, Okun M, Osiecki L, Pauls D, Posthuma D, Ramensky V, Robertson M, Rouleau G, Sandor P, Scharf J, Singer H, Smit J, Sul J, Yu D, Neale B, Coppola G, Mathews C, Tischfield J, Scharf J, State M, Heiman G. De Novo Coding Variants Are Strongly Associated with Tourette Disorder. Neuron 2017, 94: 486-499.e9. PMID: 28472652, PMCID: PMC5769876, DOI: 10.1016/j.neuron.2017.04.024.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingTourette's disorderDamaging variantsLikely gene-disrupting variantsComplex neurodevelopmental disorderClinical casesUnrelated probandsNeurodevelopmental disordersDe novo damaging variantsDisordersRisk genesGenetic cohortsConsistent evidenceCoding variantReplication sampleProbandsInternational ConsortiumCohortVariants