D057895Concepts & IdeasDisordersG05.365.590.029.530.587G05.380.350.500580.995341Haploinsufficiencycmhprofilesont: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 nameOrganizationPersonMDBradleyWaradyBradley A. Warady0.000000000000000.0000000000000063Warady, BradleyDirector, Division of Pediatric Nephrology MD, MSCIJenniferSchusterJennifer E. Schuster0.000000000000000.0000000000000083Schuster, Jennifer0000-0001-6365-566XDirector, Infectious Disease Fellowship Program3Assistant Professor1Professor28121514Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, Werth M, Westland R, Vivante A, Makar GS, Bodria M, Sampson MG, Gillies CE, Vega-Warner V, Maiorana M, Petrey DS, Honig B, Lozanovski VJ, Salomon R, Heidet L, Carpentier W, Gaillard D, Carrea A, Gesualdo L, Cusi D, Izzi C, Scolari F, van Wijk JA, Arapovic A, Saraga-Babic M, Saraga M, Kunac N, Samii A, McDonald-McGinn DM, Crowley TB, Zackai EH, Drozdz D, Miklaszewska M, Tkaczyk M, Sikora P, Szczepanska M, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Darlow JM, Puri P, Barton D, Casolari E, Furth SL, Warady BA, Gucev Z, Hakonarson H, Flogelova H, Tasic V, Latos-Bielenska A, Materna-Kiryluk A, Allegri L, Wong CS, Drummond IA, D'Agati V, Imamoto A, Barasch JM, Hildebrandt F, Kiryluk K, Lifton RP, Morrow BE, Jeanpierre C, Papaioannou VE, Ghiggeri GM, Gharavi AG, Katsanis N, Sanna-Cherchi SThe New England journal of medicineLopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, Werth M, Westland R, Vivante A, Makar GS, Bodria M, Sampson MG, Gillies CE, Vega-Warner V, Maiorana M, Petrey DS, Honig B, Lozanovski VJ, Salomon R, Heidet L, Carpentier W, Gaillard D, Carrea A, Gesualdo L, Cusi D, Izzi C, Scolari F, van Wijk JA, Arapovic A, Saraga-Babic M, Saraga M, Kunac N, Samii A, McDonald-McGinn DM, Crowley TB, Zackai EH, Drozdz D, Miklaszewska M, Tkaczyk M, Sikora P, Szczepanska M, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Darlow JM, Puri P, Barton D, Casolari E, Furth SL, Warady BA, Gucev Z, Hakonarson H, Flogelova H, Tasic V, Latos-Bielenska A, Materna-Kiryluk A, Allegri L, Wong CS, Drummond IA, D'Agati V, Imamoto A, Barasch JM, Hildebrandt F, Kiryluk K, Lifton RP, Morrow BE, Jeanpierre C, Papaioannou VE, Ghiggeri GM, Gharavi AG, Katsanis N, Sanna-Cherchi S. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med. 2017 02 23; 376(8):742-754.N Engl J Med2017-01-25T00:00:002017Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.0.2768730.05687895research area of0.7235660.1877828subject area forPathology and Laboratory MedicinePediatricsResearchClinicalMBBS, MRCPCHVenkateshSampathVenkatesh Sampath39.08346750000000-94.5771129000000044Sampath, VenkateshPhysician-ScientistChildren's Mercy Kansas CityMD, FAAP, FACMG, CCDEricRushEric T. Rush0.000000000000000.00000000000000200Rush, Eric0000-0002-8147-7315Medical Director, Office of Faculty Affairs and Development31353024Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke NAmerican journal of human geneticsFischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N. Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. Am J Hum Genet. 2019 09 05; 105(3):631-639.Am J Hum Genet2019-07-25T00:00:002019Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.33830085Xia S, Menden HL, Townley N, Mabry SM, Johnston J, Nyp MF, Heruth DP, Korfhagen T, Sampath VJCI insightXia S, Menden HL, Townley N, Mabry SM, Johnston J, Nyp MF, Heruth DP, Korfhagen T, Sampath V. Delta-like 4 is required for pulmonary vascular arborization and alveolarization in the developing lung. JCI Insight. 2021 04 08; 6(7).JCI Insight2021-04-08T00:00:002021Delta-like 4 is required for pulmonary vascular arborization and alveolarization in the developing lung.PhD, FACMGAnaCohenAna Cohen0.000000000000000.00000000000000209Cohen, AnaAssistant Director Clinical Genome Center36509151Bodansky A, Vazquez SE, Chou J, Novak T, Al-Musa A, Young C, Newhams M, Kucukak S, Zambrano LD, Mitchell A, Wang CY, Moffitt K, Halasa NB, Loftis LL, Schwartz SP, Walker TC, Mack EH, Fitzgerald JC, Gertz SJ, Rowan CM, Irby K, Sanders RC, Kong M, Schuster JE, Staat MA, Zinter MS, Cvijanovich NZ, Tarquinio KM, Coates BM, Flori HR, Dahmer MK, Crandall H, Cullimore ML, Levy ER, Chatani B, Nofziger R, Geha RS, DeRisi J, Campbell AP, Anderson M, Randolph AGThe Journal of allergy and clinical immunologyBodansky A, Vazquez SE, Chou J, Novak T, Al-Musa A, Young C, Newhams M, Kucukak S, Zambrano LD, Mitchell A, Wang CY, Moffitt K, Halasa NB, Loftis LL, Schwartz SP, Walker TC, Mack EH, Fitzgerald JC, Gertz SJ, Rowan CM, Irby K, Sanders RC, Kong M, Schuster JE, Staat MA, Zinter MS, Cvijanovich NZ, Tarquinio KM, Coates BM, Flori HR, Dahmer MK, Crandall H, Cullimore ML, Levy ER, Chatani B, Nofziger R, Geha RS, DeRisi J, Campbell AP, Anderson M, Randolph AG. NFKB2 haploinsufficiency identified via screening for IFN-a2 autoantibodies in children and adolescents hospitalized with SARS-CoV-2-related complications. J Allergy Clin Immunol. 2023 04; 151(4):926-930.e2.J Allergy Clin Immunol2022-12-09T00:00:002022NFKB2 haploinsufficiency identified via screening for IFN-a2 autoantibodies in children and adolescents hospitalized with SARS-CoV-2-related complications.37057675Schmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, Qu?lin C, Faoucher M, Kaplan J, Procopio R, Saunders CJ, Cohen ASA, Lemire G, Sacharow S, O'Donnell-Luria A, Segal RJ, Kianmahd Shamshoni J, Schweitzer D, Ebrahimi-Fakhari D, Monaghan K, Palculict TB, Napier MP, Tao A, Isidor B, Moradkhani K, Reis A, Sticht H, Chung WK, Zweier CGenetics in medicine : official journal of the American College of Medical GeneticsSchmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, Qu?lin C, Faoucher M, Kaplan J, Procopio R, Saunders CJ, Cohen ASA, Lemire G, Sacharow S, O'Donnell-Luria A, Segal RJ, Kianmahd Shamshoni J, Schweitzer D, Ebrahimi-Fakhari D, Monaghan K, Palculict TB, Napier MP, Tao A, Isidor B, Moradkhani K, Reis A, Sticht H, Chung WK, Zweier C. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genet Med. 2023 Jul; 25(7):100839.Genet Med2023-04-11T00:00:002023LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.true1Director, Division of Pediatric Nephrology Director, Division of Pediatric Nephrology true1Assistant Director Clinical Genome CenterAssistant Director Clinical Genome Centertrue1Physician-ScientistPhysician-Scientisttrue1Director, Infectious Disease Fellowship ProgramDirector, Infectious Disease Fellowship Programtrue1Medical Director, Office of Faculty Affairs and DevelopmentMedical Director, Office of Faculty Affairs and Development