D001259DisordersC10.597.350.090C23.888.592.350.090230.999461Ataxiacmhprofilesont:personsuffixperson suffixprns:fullNamefull nameprns:hasAuthorListauthor listprns: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 ResourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlevivo:researchAreaOfresearch area ofvivo:subjectAreaForsubject area forrdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPerson11856531Magdaleno S, Keshvara L, Curran TNeuronMagdaleno S, Keshvara L, Curran T. Rescue of ataxia and preplate splitting by ectopic expression of Reelin in reeler mice. Neuron. 2002 Feb 14; 33(4):573-86.Neuron2002-02-14T00:00:002002Rescue of ataxia and preplate splitting by ectopic expression of Reelin in reeler mice.9348346Goldowitz D, Cushing RC, Laywell E, D'Arcangelo G, Sheldon M, Sweet HO, Davisson M, Steindler D, Curran TThe Journal of neuroscience : the official journal of the Society for NeuroscienceGoldowitz D, Cushing RC, Laywell E, D'Arcangelo G, Sheldon M, Sweet HO, Davisson M, Steindler D, Curran T. Cerebellar disorganization characteristic of reeler in scrambler mutant mice despite presence of reelin. J Neurosci. 1997 Nov 15; 17(22):8767-77.J Neurosci1997-11-15T00:00:001997Cerebellar disorganization characteristic of reeler in scrambler mutant mice despite presence of reelin.MDSarahSodenSarah E. Soden0.000000000000000.00000000000000111Soden, SarahDivision Director23631824Dinwiddie DL, Smith LD, Miller NA, Atherton AM, Farrow EG, Strenk ME, Soden SE, Saunders CJ, Kingsmore SFGenomicsDinwiddie DL, Smith LD, Miller NA, Atherton AM, Farrow EG, Strenk ME, Soden SE, Saunders CJ, Kingsmore SF. Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome. Genomics. 2013 Sep; 102(3):148-56.Genomics2013-04-28T00:00:002013Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.PhD, CGCEmilyFarrowEmily G. Farrow0.000000000000000.00000000000000124Farrow, EmilyDirector of Lab OperationsPediatricsClinicalChildren's Mercy Kansas City32197074Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, K?ry S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HTAmerican journal of human geneticsMao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, K?ry S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583.Am J Hum Genet2020-03-19T00:00:002020De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.0.07802410.0298682research area of0.2199840.04096554subject area fortrue1Division DirectorDivision Directortrue1Director of Lab OperationsDirector of Lab Operations