D010009DisordersC05.116.099.708C16.320.72850770.935158OsteochondrodysplasiasFaculty 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 ResourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlevivo:researchAreaOfresearch area ofvivo:subjectAreaForsubject area forrdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPerson74Professor10Assistant Professor21Chair14Associate Professor6Adjunct Professortrue1ProfessorProfessor1.654950.0041743150research area of0.9785980.013149347subject area forDepartment of MedicineDepartment of Molecular & Human GeneticsDepartment of RadiologyRadiologyMedicine-Hematology & OncologyMolecular & Human GeneticsBaylor College of MedicineAMYMEHOLLIN-RAYAMY MEHOLLIN-RAY29.70508570000000-95.401808700000001279MEHOLLIN-RAY, AMYAdjunct ProfessorCARLOSBACINOCARLOS BACINO29.70508570000000-95.401808700000002643BACINO, CARLOSProfessorBRENDANLEEBRENDAN LEE0.000000000000000.000000000000002022LEE, BRENDANProfessortrue1ProfessorProfessorLINDSAYBURRAGELINDSAY BURRAGE0.000000000000000.000000000000006108BURRAGE, LINDSAYAssociate Professor33961779Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hanc?rov? M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenk?lbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ?L, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalov? D, Rhodes L, Sanders VR, Sedl?cek Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, T?nne E, Tveten K, Vitiello G, Vlckov? M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond AAmerican journal of human geneticsVariants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. Am J Hum Genet. 2021 05 06; 108(5):857-873.Am J Hum Genet2021-05-06T00:00:002021Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.true1Assistant ProfessorAssistant ProfessorSENTHILSUKUMARSENTHIL SUKUMAR17950SUKUMAR, SENTHILAssistant Professortrue1Associate ProfessorAssociate Professortrue1Adjunct ProfessorAdjunct Professor36995703Sukumar S, Sasa GBloodBlocking COX unlocks response in GHDD. Blood. 2023 03 30; 141(13):1497-1498.Blood2023-03-30T00:00:002023Blocking COX unlocks response in GHDD.37225827Ballios BG, Mandola A, Tayyib A, Tumber A, Garkaby J, Vong L, Heon E, Roifman CM, Vincent AEye (London, England)Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome. Eye (Lond). 2023 12; 37(18):3734-3742.Eye (Lond)2023-05-24T00:00:002023Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.38052986Mehollin-Ray AR, Stover S, Cassady CI, Zhang B, Calvo-Garcia M, Kline-Fath BPediatric radiologyUsing MRI-derived observed-to-expected total fetal lung volume to predict lethality in fetal skeletal dysplasia. Pediatr Radiol. 2024 01; 54(1):43-48.Pediatr Radiol2023-12-05T00:00:002023Using MRI-derived observed-to-expected total fetal lung volume to predict lethality in fetal skeletal dysplasia.33710406Jack CF, Birkemeier KL, Santiago JM, Macmurdo CF, Crisp MBPediatric radiologyMagnetic resonance imaging diagnosis of a skeletal dysplasia mimicking erosive arthropathy. Pediatr Radiol. 2021 Aug; 51(9):1758-1761.Pediatr Radiol2021-03-12T00:00:002021Magnetic resonance imaging diagnosis of a skeletal dysplasia mimicking erosive arthropathy.