D005799Genes & Molecular SequencesPhysiologyG05.360.340.024.340.240G05.420.320440.997541Genes, Dominantcmhprofilesont: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 nameOrganizationPerson10452274Srivastava T, Garola RE, Hellerstein SPediatric nephrology (Berlin, Germany)Srivastava T, Garola RE, Hellerstein S. Autosomal dominant inheritance of multicystic dysplastic kidney. Pediatr Nephrol. 1999 Aug; 13(6):481-3.Pediatr Nephrol1999-08-01T00:00:001999Autosomal dominant inheritance of multicystic dysplastic kidney.10571947Talebizadeh Z, Kelley PM, Askew JW, Beisel KW, Smith SDHuman mutationTalebizadeh Z, Kelley PM, Askew JW, Beisel KW, Smith SD. Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss. Hum Mutat. 1999; 14(6):493-501.Hum Mutat1999-01-01T00:00:001999Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.MDBradleyWaradyBradley A. Warady0.000000000000000.0000000000000063Warady, BradleyDirector, Division of Pediatric Nephrology 1ProfessorPhD, CGCEmilyFarrowEmily G. Farrow0.000000000000000.00000000000000124Farrow, EmilyDirector of Lab Operations29656859Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, ?unap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, Forghani I, Thiffault I, Freitag CM, Barbouth DS, Cadieux-Dion M, Willaert R, Guillen Sacoto MJ, Safina NP, Dubourg C, Grote L, Carr? W, Saunders C, Pajusalu S, Farrow E, Boland A, Karlowicz DH, Deleuze JF, Wojcik MH, Pressman R, Isidor B, Vogels A, Van Paesschen W, Al-Gazali L, Al Shamsi AM, Claustres M, Pujol A, Sanders SJ, Rivier F, Leboucq N, Cogn? B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, B?zieau S, Koenig M, Davis EE, Pasquier L, K?ry SAmerican journal of human geneticsGuissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, ?unap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, Forghani I, Thiffault I, Freitag CM, Barbouth DS, Cadieux-Dion M, Willaert R, Guillen Sacoto MJ, Safina NP, Dubourg C, Grote L, Carr? W, Saunders C, Pajusalu S, Farrow E, Boland A, Karlowicz DH, Deleuze JF, Wojcik MH, Pressman R, Isidor B, Vogels A, Van Paesschen W, Al-Gazali L, Al Shamsi AM, Claustres M, Pujol A, Sanders SJ, Rivier F, Leboucq N, Cogn? B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, B?zieau S, Koenig M, Davis EE, Pasquier L, K?ry S. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Am J Hum Genet. 2018 05 03; 102(5):744-759.Am J Hum Genet2018-04-12T00:00:002018Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.11897819Kanagawa SL, Begleiter ML, Ostlie DJ, Holcomb G, Drake W, Butler MGJournal of medical geneticsKanagawa SL, Begleiter ML, Ostlie DJ, Holcomb G, Drake W, Butler MG. Omphalocele in three generations with autosomal dominant transmission. J Med Genet. 2002 Mar; 39(3):184-5.J Med Genet2002-03-01T00:00:002002Omphalocele in three generations with autosomal dominant transmission.PediatricsResearchClinicalMD, FASNTarakSrivastavaTarak Srivastava39.08346750000000-94.5771129000000043Srivastava, TarakPediatric NephrologyChildren's Mercy Kansas CityMD, PhDTomooIwakumaTomoo Iwakuma0.000000000000000.00000000000000207Iwakuma, Tomoo0000-0001-7249-7958Professor and Director, Translational Laboratory Oncology Research26700961Iyer SV, Parrales A, Begani P, Narkar A, Adhikari AS, Martinez LA, Iwakuma TOncotargetIyer SV, Parrales A, Begani P, Narkar A, Adhikari AS, Martinez LA, Iwakuma T. Allele-specific silencing of mutant p53 attenuates dominant-negative and gain-of-function activities. Oncotarget. 2016 Feb 02; 7(5):5401-15.Oncotarget2016-02-02T00:00:002016Allele-specific silencing of mutant p53 attenuates dominant-negative and gain-of-function activities.true1Director, Division of Pediatric Nephrology Director, Division of Pediatric Nephrology true1Pediatric NephrologyPediatric Nephrologytrue1Professor and Director, Translational Laboratory Oncology ResearchProfessor and Director, Translational Laboratory Oncology Researchtrue1Director of Lab OperationsDirector of Lab Operations0.1806870.004803034research area of0.6619490.01925956subject area for