2021
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor
Webb BD, Evans A, Naidich TP, Bird L, Parikh S, Garcia M, Henderson LB, Millan F, Si Y, Brennand KJ, Hung P, Rucker JC, Wheeler PG, Schadt EE. Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor. Human Mutation 2021, 42: 685-693. PMID: 33783914, PMCID: PMC8162891, DOI: 10.1002/humu.24201.Peer-Reviewed Original ResearchConceptsIntention tremorHead magnetic resonance imagingFunction variantsHypertrophic olivary degenerationCerebellar vermian atrophyMagnetic resonance imagingAtaxia syndromeWhole-exome sequencingVermian atrophyTranscription factor 1Olivary degenerationNervous systemResonance imagingMultiple abnormalitiesFactor 1POU4F1ProbandsSyndromeHypotoniaTremorClass 4De novoIndependent probandsAtrophyNewborns
2016
The Pharmacogenomics of Bipolar Disorder study (PGBD): identification of genes for lithium response in a prospective sample
Oedegaard K, Alda M, Anand A, Andreassen O, Balaraman Y, Berrettini W, Bhattacharjee A, Brennand K, Burdick K, Calabrese J, Calkin C, Claasen A, Coryell W, Craig D, DeModena A, Frye M, Gage F, Gao K, Garnham J, Gershon E, Jakobsen P, Leckband S, McCarthy M, McInnis M, Maihofer A, Mertens J, Morken G, Nievergelt C, Nurnberger J, Pham S, Schoeyen H, Shekhtman T, Shilling P, Szelinger S, Tarwater B, Yao J, Zandi P, Kelsoe J. The Pharmacogenomics of Bipolar Disorder study (PGBD): identification of genes for lithium response in a prospective sample. BMC Psychiatry 2016, 16: 129. PMID: 27150464, PMCID: PMC4857276, DOI: 10.1186/s12888-016-0732-x.Peer-Reviewed Original ResearchConceptsLithium monotherapyBipolar disorderLithium responseMechanism of actionClinical managementValproic acidLithium respondersSingle nucleotide polymorphismsMethods/designThis studyCox proportional hazards modelProspective study sampleLarge prospective cohortLarge prospective studiesClinical Global ImpressionInitiation of treatmentMood-stabilizing medicationsBipolar Disorder (STEP-BD) studyProportional hazards modelResults of treatmentCommon psychiatric disordersMEq/L.Genome-wide association studiesClinical relapseProspective cohortRemitting course