D000015DisordersC16.131.07716380.958765Abnormalities, Multiplecmhprofilesont: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 nameOrganizationPerson3Assistant Professor4Physician1Professor1.716560.044694816research area of0.9079240.043497336subject area forPhD, CGCEmilyFarrowEmily G. Farrow0.000000000000000.00000000000000124Farrow, EmilyDirector of Lab OperationsSurgery29523099Cadieux-Dion M, Safina NP, Engleman K, Saunders C, Repnikova E, Raje N, Canty K, Farrow E, Miller N, Zellmer L, Thiffault IBMC medical geneticsCadieux-Dion M, Safina NP, Engleman K, Saunders C, Repnikova E, Raje N, Canty K, Farrow E, Miller N, Zellmer L, Thiffault I. Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report. BMC Med Genet. 2018 03 09; 19(1):41.BMC Med Genet2018-03-09T00:00:002018Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.Pathology and Laboratory MedicinePediatricsResearchClinicalChildren's Mercy Kansas CityMDCharlesSnyderCharles L. Snyder0.000000000000000.00000000000000158Snyder, CharlesChief, Section of Pediatric Surgery MD, FAAP, FACMG, CCDEricRushEric T. Rush0.000000000000000.00000000000000200Rush, Eric0000-0002-8147-7315Medical Director, Office of Faculty Affairs and DevelopmentPhD, FACMGAnaCohenAna Cohen0.000000000000000.00000000000000209Cohen, AnaAssistant Director Clinical Genome Center32243864Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg RAmerican journal of human geneticsChoufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. Am J Hum Genet. 2020 05 07; 106(5):596-610.Am J Hum Genet2020-04-02T00:00:002020DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.36335759Hankey PB, Ghulmiyyah J, Yeh HW, Tracy M, Arganbright JInternational journal of pediatric otorhinolaryngologyHankey PB, Ghulmiyyah J, Yeh HW, Tracy M, Arganbright J. Airway anomalies in patients with 22q11.2 deletion syndrome: A scoping review. Int J Pediatr Otorhinolaryngol. 2022 Dec; 163:111373.Int J Pediatr Otorhinolaryngol2022-11-02T00:00:002022Airway anomalies in patients with 22q11.2 deletion syndrome: A scoping review.true1Chief, Section of Pediatric Surgery Chief, Section of Pediatric Surgery true1Assistant Director Clinical Genome CenterAssistant Director Clinical Genome CenterMDAvnerMeodedAvner Meoded0.000000000000000.00000000000000218Meoded, AvnerPediatric Radiologist and Neuroradiologist34674207Meoded A, Kukreja M, Orman G, Boltshauser E, Huisman TAGMNeuropediatricsMeoded A, Kukreja M, Orman G, Boltshauser E, Huisman TAGM. Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome. Neuropediatrics. 2022 06; 53(3):195-199.Neuropediatrics2021-10-21T00:00:002021Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome.35863333Meoded A, Kukreja M, Orman G, Boltshauser E, Huisman TAGMNeuropediatricsMeoded A, Kukreja M, Orman G, Boltshauser E, Huisman TAGM. Reply to "Comment: Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome". Neuropediatrics. 2022 08; 53(4):306-307.Neuropediatrics2022-07-21T00:00:002022Reply to "Comment: Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome".true1Pediatric Radiologist and NeuroradiologistPediatric Radiologist and Neuroradiologisttrue1Director of Lab OperationsDirector of Lab Operationstrue1Medical Director, Office of Faculty Affairs and DevelopmentMedical Director, Office of Faculty Affairs and Development