D002524DisordersC10.228.140.252.190C10.597.350.090.500C23.888.592.350.090.200440.997497Cerebellar Ataxiacmhprofilesont:personsuffixperson suffixFaculty Rankprns:fullNamefull nameprns:hasAuthorListauthor listprns:hasFacultyRankhas faculty rankprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:mainImagephotoprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:meshTreeNumberMeSH tree numberprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:positionInDepartmentposition in departmentprns:positionInDivisionposition in divisionprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierDepartmentDivisionvivo:hrJobTitleHR job titleInformation Resourcevivo:orcidIdORCID idPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlevivo:researchAreaOfresearch area ofvivo:subjectAreaForsubject area forrdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonMD, PhDTomiPastinenTomi Pastinen0.000000000000000.00000000000000113Pastinen, TomiDirector, Center for Pediatric Genomic Medicine 3Assistant Professor7673626Conners GPThe Journal of emergency medicineConners GP. 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Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. Nat Genet. 2021 03; 53(3):313-321.Nat Genet2021-03-04T00:00:002021Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics.37043503Calame DG, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Torres RJ, Prior C, G?mez-Gonz?lez C, Biskup S, Lupski JR, Maric D, Holmgren M, Regier D, Yano STBrain : a journal of neurologyCalame DG, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Torres RJ, Prior C, G?mez-Gonz?lez C, Biskup S, Lupski JR, Maric D, Holmgren M, Regier D, Yano ST. Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023 08 01; 146(8):3162-3171.Brain2023-08-01T00:00:002023Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.MDAvnerMeodedAvner Meoded0.000000000000000.00000000000000218Meoded, AvnerPediatric Radiologist and Neuroradiologist32227455Boyd LC, O'Brien KJ, Ozkaya N, Lehky T, Meoded A, Gochuico BR, Hannah-Shmouni F, Nath A, Toro C, Gahl WA, Estrada-Veras JI, Dave RHAnnals of clinical and translational neurologyBoyd LC, O'Brien KJ, Ozkaya N, Lehky T, Meoded A, Gochuico BR, Hannah-Shmouni F, Nath A, Toro C, Gahl WA, Estrada-Veras JI, Dave RH. Neurological manifestations of Erdheim-Chester Disease. Ann Clin Transl Neurol. 2020 04; 7(4):497-506.Ann Clin Transl Neurol2020-03-29T00:00:002020Neurological manifestations of Erdheim-Chester Disease.true1Pediatric Radiologist and NeuroradiologistPediatric Radiologist and Neuroradiologisttrue1Director, Center for Pediatric Genomic Medicine Director, Center for Pediatric Genomic Medicine true1Computational Research FacultyComputational Research Facultytrue1Director of Lab OperationsDirector of Lab Operations0.2384070.04728354research area of0.956020.1348965subject area for