MIR REZABEKHEIRNIAMIR REZA BEKHEIRNIA29.70508570000000-95.401808700000003927BEKHEIRNIA, MIR REZARenal GeneticsPrecision MedicineCAKUTHematuriaAssistant Professorplugins:TwitterTwitterprns:coAuthorOfcoauthor ofprns:endDateend dateFaculty Rankprns:fullNamefull nameprns:grantAwardedBygrant awarded byprns: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:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:physicalNeighborOfphysical neighborprns:pluginSearchableDataProfilesRNS Plugin Searchable Dataprns:positionInDepartmentposition in departmentprns:positionInDivisionposition in divisionprns:predicateNodepredicate nodeprns:principalInvestigatorNameprincipal investigator nameprns:publicationDatepublication dateprns:similarTosimilar toprns:sortOrdersort orderprns:startDatestart dateprns:trainingAtOrganizationeducational organizationprns:trainingLocationtraining locationprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierAddressvivo:address1address line 1vivo:addressCitycityvivo:addressPostalCodepostal codevivo:addressStatestate or provinceAgreementvivo:authorInAuthorshipselected publicationsvivo:authorRankauthor rank in publicationAuthorshipDepartmentvivo:descriptiondescriptionDivisionvivo:educationalTrainingeducation and trainingEducational Trainingvivo:freetextKeywordkeywordsGrantvivo:hasResearchArearesearch areasvivo:hasResearcherRoleresearch activitiesvivo:hrJobTitleHR job titleInformation Resourcevivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcevivo:mailingAddressmailing addressvivo:majorFieldmajor field of degreevivo:personInPositionpositionsPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titleResearcher Rolevivo:researcherRoleOfresearcher role ofRolevivo:roleContributesTocontributes tovivo:sponsorAwardIdsponsor award idrdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPerson25326635Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CMJAMAMolecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.JAMA2014-11-12T00:00:002014Molecular findings among patients referred for clinical whole-exome sequencing.Authorship 384656Cancer BiologyMD AndersonRAGHUKALLURIRAGHU KALLURI9841KALLURI, RAGHUProfessor14994316Larijani B, Bekheirnia MR, Soltani A, Khalili-Far A, Adibi H, Jalili RBAmerican journal of human biology : the official journal of the Human Biology CouncilBone mineral density is related to blood pressure in men. Am J Hum Biol. 2004 Mar-Apr; 16(2):168-71.Am J Hum Biol2004-03-01T00:00:002004Bone mineral density is related to blood pressure in men.14997022Bekheirnia MR, Shamshirsaz AA, Kamgar M, Bouzari N, Erfanzadeh G, Pourzahedgilani N, Tabatabaie SM, Abdollah Shamshirsaz A, Kimiagar M, Ezzati F, Larijani BBiological trace element researchSerum zinc and its relation to bone mineral density in beta-thalassemic adolescents. Biol Trace Elem Res. 2004 Mar; 97(3):215-24.Biol Trace Elem Res2004-03-01T00:00:002004Serum zinc and its relation to bone mineral density in beta-thalassemic adolescents.74Professor10Assistant Professor54Instructor42Director6Adjunct Professor17660669Broumand B, Shamshirsaz AA, Kamgar M, Hashemi R, Aiazi F, Bekheirnia M, Boozary N, Komeilian Z, Shamshirsaz AH, Tabatabaiee MR, Broumand VSaudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaPrevalence of hepatitis C infection and its risk factors in hemodialysis patients in tehran: preliminary report from "the effect of dialysis unit isolation on the incidence of hepatitis C in dialysis patients" project. Saudi J Kidney Dis Transpl. 2002 October-December; 13(4):467-72.Saudi J Kidney Dis Transpl2002-10-01T00:00:002002Prevalence of hepatitis C infection and its risk factors in hemodialysis patients in tehran: preliminary report from "the effect of dialysis unit isolation on the incidence of hepatitis C in dialysis patients" project.One Baylor PlazaHouston, 77030TX15469615Shamshirsaz AA, Kamgar M, Bekheirnia MR, Ayazi F, Hashemi SR, Bouzari N, Habibzadeh MR, Pourzahedgilani N, Broumand V, Shamshirsaz AH, Moradi M, Borghei M, Haghighi NN, Broumand BBMC nephrologyThe role of hemodialysis machines dedication in reducing Hepatitis C transmission in the dialysis setting in Iran: a multicenter prospective interventional study. BMC Nephrol. 2004 Oct 07; 5:13.BMC Nephrol2004-10-07T00:00:002004The role of hemodialysis machines dedication in reducing Hepatitis C transmission in the dialysis setting in Iran: a multicenter prospective interventional study.21909107LeMaire SA, McDonald ML, Guo DC, Russell L, Miller CC, Johnson RJ, Bekheirnia MR, Franco LM, Nguyen M, Pyeritz RE, Bavaria JE, Devereux R, Maslen C, Holmes KW, Eagle K, Body SC, Seidman C, Seidman JG, Isselbacher EM, Bray M, Coselli JS, Estrera AL, Safi HJ, Belmont JW, Leal SM, Milewicz DMNature geneticsGenome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Nat Genet. 2011 Sep 11; 43(10):996-1000.Nat Genet2011-09-11T00:00:002011Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.16483846Bekheirnia MR, Schrier RWCurrent opinion in pharmacologyPathophysiology of water and sodium retention: edematous states with normal kidney function. Curr Opin Pharmacol. 2006 Apr; 6(2):202-7.Curr Opin Pharmacol2006-02-17T00:00:002006Pathophysiology of water and sodium retention: edematous states with normal kidney function.18728845Masoumi A, Reed-Gitomer B, Kelleher C, Bekheirnia MR, Schrier RWTherapeutics and clinical risk managementDevelopments in the management of autosomal dominant polycystic kidney disease. Ther Clin Risk Manag. 2008 Apr; 4(2):393-407.Ther Clin Risk Manag2008-04-01T00:00:002008Developments in the management of autosomal dominant polycystic kidney disease.20378821Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, Schrier RWJournal of the American Society of Nephrology : JASNGenotype-phenotype correlation in X-linked Alport syndrome. J Am Soc Nephrol. 2010 May; 21(5):876-83.J Am Soc Nephrol2010-04-08T00:00:002010Genotype-phenotype correlation in X-linked Alport syndrome.20452711Reed B, Nobakht E, Dadgar S, Bekheirnia MR, Masoumi A, Belibi F, Yan XD, Cadnapaphornchai M, Schrier RWAmerican journal of kidney diseases : the official journal of the National Kidney FoundationRenal ultrasonographic evaluation in children at risk of autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2010 Jul; 56(1):50-6.Am J Kidney Dis2010-05-08T00:00:002010Renal ultrasonographic evaluation in children at risk of autosomal dominant polycystic kidney disease.21465659Andrabi S, Bekheirnia MR, Robbins-Furman P, Lewis RA, Prior TW, Potocki LAmerican journal of medical genetics. Part ASMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction. Am J Med Genet A. 2011 May; 155A(5):1165-9.Am J Med Genet A2011-04-04T00:00:002011SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction.22405928Bekheirnia MR, Zhang W, Eble T, Willis A, Shaibani A, Wong LJ, Scaglia F, Dhar SUGenePOLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. Gene. 2012 May 10; 499(1):209-12.Gene2012-03-03T00:00:002012POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria.Authorship 785059127657687Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, Myers A, Borovik L, Craigen WJ, Hanchard NA, Rosenfeld JA, Lewis RA, Gonzales ET, Gibbs RA, Belmont JW, Roth DR, Eng C, Braun MC, Lupski JR, Lamb DJGenetics in medicine : official journal of the American College of Medical GeneticsWhole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2017 04; 19(4):412-420.Genet Med2016-09-22T00:00:002016Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.Authorship 8759816Authorship 8761964Authorship 876269212914670Shamshirsaz AA, Bekheirnia MR, Kamgar M, Pourzahedgilani N, Bouzari N, Habibzadeh M, Hashemi R, Shamshirsaz AA, Aghakhani S, Homayoun H, Larijani BBMC endocrine disordersMetabolic and endocrinologic complications in beta-thalassemia major: a multicenter study in Tehran. BMC Endocr Disord. 2003 Aug 12; 3(1):4.BMC Endocr Disord2003-08-12T00:00:002003Metabolic and endocrinologic complications in beta-thalassemia major: a multicenter study in Tehran.28720077Alge JL, Wenderfer SE, Hicks J, Bekheirnia MR, Schady DA, Kain JS, Braun MCBMC nephrologyHemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report. BMC Nephrol. 2017 Jul 18; 18(1):243.BMC Nephrol2017-07-18T00:00:002017Hemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report.27900362Webster E, Cho MT, Alexander N, Desai S, Naidu S, Bekheirnia MR, Lewis A, Retterer K, Juusola J, Chung WKCold Spring Harbor molecular case studiesDe novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. Cold Spring Harb Mol Case Stud. 2016 11; 2(6):a001172.Cold Spring Harb Mol Case Stud2016-11-01T00:00:002016De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features.Authorship 1054121HSIAO-TUANCHAOHSIAO-TUAN CHAO13688CHAO, HSIAO-TUANAssistant Professortrue1ProfessorProfessortrue1ProfessorProfessortrue1ProfessorProfessortrue1ProfessorProfessortrue1InstructorInstructorD014564Disorders891740.810592Urogenital AbnormalitiesD008607Disorders24810220.567045Intellectual DisabilityD007668Anatomy82021470.513224KidneyD009394Disorders11450.96198Nephritis, HereditaryD014551Anatomy62820.912589Urinary TractDepartment of MedicineDepartment of PediatricsDepartment of Molecular & Human GeneticsPediatrics-RenalMedicine-Athero & LipoproteinsMedicine-NephrologyMolecular & Human GeneticsPediatrics-NeurologyBaylor College of MedicineSANDESHNAGAMANISANDESH NAGAMANI29.70508570000000-95.401808700000001081NAGAMANI, SANDESHProfessorSHWETADHARSHWETA DHAR29.70508570000000-95.401808700000001079DHAR, SHWETAProfessorMICHAELBRAUNMICHAEL BRAUN0.000000000000000.000000000000001894BRAUN, MICHAELProfessorKIMWORLEYKIM WORLEY29.70508570000000-95.401808700000003243WORLEY, KIMProfessorGADSHAULSKYGAD SHAULSKY29.70508570000000-95.401808700000003532SHAULSKY, GADProfessor2.086970.00395078214research areas1.563650.02541356coauthor of52.16785.7093160similar to1148selected publicationsCHRISTINEENGCHRISTINE ENG29.70420400000000-95.38258200000000242ENG, CHRISTINEProfessorERICBOERWINKLEERIC BOERWINKLE0.000000000000000.000000000000002653BOERWINKLE, ERICAdjunct ProfessorISABELLORENZOISABEL LORENZO29.70508570000000-95.401808700000003261LORENZO, ISABELInstructorJAMESLUPSKIJAMES LUPSKI29.71073630000000-95.396604500000003140LUPSKI, JAMESProfessorFERNANDOSCAGLIAFERNANDO SCAGLIA29.70508570000000-95.401808700000003584SCAGLIA, FERNANDOProfessorAuthorship 940952330848071Shayota BJ, Soler-Alfonso C, Bekheirnia MR, Mizerik E, Boyer SW, Xiao R, Yang Y, Elsea SH, Scaglia FAmerican journal of medical genetics. Part ACase report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency. Am J Med Genet A. 2019 05; 179(5):803-807.Am J Med Genet A2019-03-07T00:00:002019Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.RICHARDGIBBSRICHARD GIBBS0.000000000000000.000000000000003131GIBBS, RICHARDDistinguished Service ProfessorAuthorship 1062197Authorship 1292211324088041Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CMThe New England journal of medicineClinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11.N Engl J Med2013-10-02T00:00:002013Clinical whole-exome sequencing for the diagnosis of mendelian disorders.Authorship 95087929Authorship 95088019Authorship 9508813Authorship 9508822Authorship 9508833Authorship 95088431263215Blackburn ATM, Bekheirnia N, Uma VC, Corkins ME, Xu Y, Rosenfeld JA, Bainbridge MN, Yang Y, Liu P, Madan-Khetarpal S, Delgado MR, Hudgins L, Krantz I, Rodriguez-Buritica D, Wheeler PG, Al-Gazali L, Mohamed Saeed Mohamed Al Shamsi A, Gomez-Ospina N, Chao HT, Mirzaa GM, Scheuerle AE, Kukolich MK, Scaglia F, Eng C, Willsey HR, Braun MC, Lamb DJ, Miller RK, Bekheirnia MRGenetics in medicine : official journal of the American College of Medical GeneticsDYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genet Med. 2019 12; 21(12):2755-2764.Genet Med2019-07-02T00:00:002019DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.31256877Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR, University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JRAmerican journal of human geneticsParalog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316.Am J Hum Genet2019-06-27T00:00:002019Paralog Studies Augment Gene Discovery: DDX and DHX Genes.18215695Reed BY, McFann K, Bekheirnia MR, Reza Bekheirnia M, Nobakhthaghighi N, Nobkhthaghighi N, Masoumi A, Johnson AM, Shamshirsaz AA, Shamshiraz AA, Kelleher CL, Schrier RWAmerican journal of kidney diseases : the official journal of the National Kidney FoundationVariation in age at ESRD in autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2008 Feb; 51(2):173-83.Am J Kidney Dis2008-02-01T00:00:002008Variation in age at ESRD in autosomal dominant polycystic kidney disease.17786783Shamshirsaz AA, Bekheirnia MR, Kamgar M, Pakbaz Z, Tabatabaie SM, Bouzari N, Pourzahedgilani N, Azarkeivan A, Hashemi SR, Moosavi F, Alebouyeh M, Vosough P, Kimiagar M, Shamshirsaz AA, Moradi M, Habibzadeh MR, Nobakhthaghighi N, Larijani BPediatric hematology and oncologyBone mineral density in Iranian adolescents and young adults with beta-thalassemia major. Pediatr Hematol Oncol. 2007 Oct-Nov; 24(7):469-79.Pediatr Hematol Oncol2007-10-01T00:00:002007Bone mineral density in Iranian adolescents and young adults with beta-thalassemia major.17699346Nobakhthaghighi N, Kamgar M, Bekheirnia MR, McFann K, Estacio R, Schrier RWClinical journal of the American Society of Nephrology : CJASNRelationship between urinary albumin excretion and left ventricular mass with mortality in patients with type 2 diabetes. Clin J Am Soc Nephrol. 2006 Nov; 1(6):1187-90.Clin J Am Soc Nephrol2006-09-13T00:00:002006Relationship between urinary albumin excretion and left ventricular mass with mortality in patients with type 2 diabetes.16221221Shamshirsaz AA, Shamshirsaz A, Reza Bekheirnia M, Bekheirnia RM, Kamgar M, Johnson AM, McFann K, Cadnapaphornchai M, Nobakhthaghighi N, Haghighi NN, Schrier RWKidney internationalAutosomal-dominant polycystic kidney disease in infancy and childhood: progression and outcome. Kidney Int. 2005 Nov; 68(5):2218-24.Kidney Int2005-11-01T00:00:002005Autosomal-dominant polycystic kidney disease in infancy and childhood: progression and outcome.Authorship 9562091531568715Shayota BJ, Le NT, Bekheirnia N, Rosenfeld JA, Goldstein AC, Moritz M, Bartholomew DW, Pastore MT, Xia F, Eng C, Yang Y, Lamb DJ, Scaglia F, Braun MC, Bekheirnia MRMolecular genetics & genomic medicineCharacterization of the renal phenotype in RMND1-related mitochondrial disease. Mol Genet Genomic Med. 2019 12; 7(12):e973.Mol Genet Genomic Med2019-09-30T00:00:002019Characterization of the renal phenotype in RMND1-related mitochondrial disease.true1ProfessorProfessorAuthorship 962384631821705Slater B, Bekheirnia N, Angelo J, Bi W, Braun MC, Bekheirnia MRAmerican journal of medical genetics. Part ANephronophthisis due to a novel DCDC2 variant in a patient from African-Caribbean descent: A case report. Am J Med Genet A. 2020 03; 182(3):527-531.Am J Med Genet A2019-12-10T00:00:002019Nephronophthisis due to a novel DCDC2 variant in a patient from African-Caribbean descent: A case report.Authorship 9628932931857706Blackburn ATM, Bekheirnia N, Uma VC, Corkins ME, Xu Y, Rosenfeld JA, Bainbridge MN, Yang Y, Liu P, Madan-Khetarpal S, Delgado MR, Hudgins L, Krantz I, Rodriguez-Buritica D, Wheeler PG, Al-Gazali L, Shamsi AMSMA, Gomez-Ospina N, Chao HT, Mirzaa GM, Scheuerle AE, Kukolich MK, Scaglia F, Eng C, Willsey HR, Braun MC, Lamb DJ, Miller RK, Bekheirnia MRGenetics in medicine : official journal of the American College of Medical GeneticsCorrection: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genet Med. 2020 Apr; 22(4):821.Genet Med2020-04-01T00:00:002020Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.true1Postdoc Fellows and AssociatesPostdoc Fellows and AssociatesMaimunaPaulMaimuna Paul15448Paul, MaimunaPostdoc Fellows and Associates71Postdoc Fellows and AssociatesPostDoctrue1Adjunct ProfessorAdjunct ProfessorAuthorship 995262Bekheirnia MR, Bekheirnia NRenal GeneticsHandbook of Adult Genetics and Genomics: Shweta Dhar, Sandesh Sreenath Nagamani, Tanya Eble. Renal Genetics. 2020.2020-04-13T00:00:002020Handbook of Adult Genetics and Genomics: Shweta Dhar, Sandesh Sreenath Nagamani, Tanya EbleRBekheirniaAuthorship 1007474233350591Rossetti LZ, Bekheirnia MR, Lewis AM, Mefford HC, Golden-Grant K, Tarczy-Hornoch K, Briere LC, Sweetser DA, Walker MA, Kravets E, Stevenson DA, Bruenner G, Sebastian J, Knapo J, Rosenfeld JA, Marcogliese PC, Undiagnosed Diseases Network, Wangler MFMolecular genetics & genomic medicineMissense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype. Mol Genet Genomic Med. 2021 01; 9(1):e1542.Mol Genet Genomic Med2020-12-22T00:00:002020Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.Authorship 1007513933381861Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano-Ozog K, Martinez-Monseny A, Curry CJ, Graham JM, Velsher L, Bekheirnia MR, Seidel V, Dedousis D, Mitchell AL, DiMarino AM, Riess A, Balasubramanian M, Fish JL, Caffrey AR, Fleischer N, Pierson TM, Lacro RVClinical geneticsGrowth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. Clin Genet. 2021 04; 99(4):547-557.Clin Genet2021-01-13T00:00:002021Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.Authorship 1016247333847457Rosenfeld JA, Xiao R, Bekheirnia MR, Kanani F, Parker MJ, Koenig MK, van Haeringen A, Ruivenkamp C, Rosmaninho-Salgado J, Almeida PM, S? J, Pinto Basto J, Palen E, Oetjens KF, Burrage LC, Xia F, Liu P, Eng CM, Undiagnosed Diseases Network, Yang Y, Posey JE, Lee BHAmerican journal of medical genetics. Part AHeterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 07; 185(7):2037-2045.Am J Med Genet A2021-04-13T00:00:002021Heterozygous variants in SPTBN1 cause intellectual disability and autism.Authorship 1017053533900143Lim J, Shayota BJ, Lay E, Elsea SH, Bekheirnia MR, Tessier MEM, Kralik SF, Rice GM, Soler-Alfonso C, Scaglia FJournal of child neurologyAcute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy. J Child Neurol. 2021 09; 36(10):841-852.J Child Neurol2021-04-26T00:00:002021Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy.K12 scholarThe goal of this study is to understand the genetics of CAKUT.PIThe goal of this study is to understand the contribution of genetic factors to persistent isolated hematuria in children.PIThe goal of this funding is to improve management of patients with lower urinary tract obstruction.07/2011BCMHouston, TXBCM, Medical Genetics ResidencyMedical Genetics Residency07/2012BCMHouston, TXBCM, Clinical Molecular Genetics FellowshipClinical Molecular Genetics FellowshipAuthorship 10231582021-09-01BCMBekheirnia, Reza MD2018-09-01Precision Medicine award to study “Persistent isolated hematuria in children”PMhematuria2022-06-30Woods Family FoundationBekheirnia, Reza MD2017-07-01Genetics of lower urinary tract obstructionWoodsLUTO2018-07-01NIHLamb, Dolores PhD2012-07-01Multidisciplinary K12 Urologic Research Career Development Program; M. R. Bekheirnia was a K12 scholarDK0083014Nasim Bekheirnia, Kevin E. Glinton, Linda Rossetti, Joshua Manor, Wuyan Chen, Dolores J. Lamb, Michael C. Braun, and Mir Reza BekheirniaASN Kidney 360Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases. ASN Kidney 360. 2021; 2(1):90-104.2021-07-09T00:00:002021Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseasestrue1ProfessorProfessortrue1ProfessorProfessortrue1Distinguished Service ProfessorDistinguished Service Professortrue1Assistant ProfessorAssistant Professortrue1ProfessorProfessorAuthorship 14991Authorship 1043282835368817Bekheirnia N, Glinton KE, Rossetti L, Manor J, Chen W, Lamb DJ, Braun MC, Bekheirnia MRKidney360Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases. Kidney360. 2021 01 28; 2(1):90-104.Kidney3602020-10-30T00:00:002020Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.Authorship 1046994335645367Wenderfer SE, Orjuela A, Bekheirnia MR, Pereira M, Muscal E, Braun MC, De Guzman MPediatric reportsLupus Nephritis, Autoantibody Production and Kidney Outcomes in Males with Childhood-Onset Systemic Lupus Erythematosus. Pediatr Rep. 2022 May 06; 14(2):220-232.Pediatr Rep2022-05-06T00:00:002022Lupus Nephritis, Autoantibody Production and Kidney Outcomes in Males with Childhood-Onset Systemic Lupus Erythematosus.Authorship 1047994835698242Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Ferlini A, Gavrilova RH, Graham JM, Haack TB, Juusola J, Kant SG, Kayani S, Keren B, Ketteler P, Kl?ckner C, Koopmann TT, Kruisselbrink TM, Kuechler A, Lambert L, Latypova X, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, Mignot C, McLaughlin J, Murgia A, Narayanan V, Nava C, Neuser S, Nizon M, Ognibene D, Park J, Platzer K, Poirsier C, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Trentesaux AS, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EWGenome medicineGain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome Med. 2022 06 13; 14(1):62.Genome Med2022-06-13T00:00:002022Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.Authorship 1049146735759000Alge JL, Bekheirnia N, Willcockson AR, Qin X, Scherer SE, Braun MC, Bekheirnia MRPediatric nephrology (Berlin, Germany)Variants in genes coding for collagen type IV a-chains are frequent causes of persistent, isolated hematuria during childhood. Pediatr Nephrol. 2023 03; 38(3):687-695.Pediatr Nephrol2022-06-27T00:00:002022Variants in genes coding for collagen type IV a-chains are frequent causes of persistent, isolated hematuria during childhood.true1ProfessorProfessortrue1Assistant ProfessorAssistant ProfessorAuthorship 10603571Authorship 10570796Authorship 10617592036218249Bekheirnia MRAmerican journal of medical genetics. Part C, Seminars in medical geneticsIntroduction to special issue for kidney genetics. Am J Med Genet C Semin Med Genet. 2022 Sep; 190(3):261.Am J Med Genet C Semin Med Genet2022-10-11T00:00:002022Introduction to special issue for kidney genetics.36414417Kl?mbt V, Buerger F, Wang C, Naert T, Richter K, Nauth T, Weiss AC, Sieckmann T, Lai E, Connaughton DM, Seltzsam S, Mann N, Majmundar AJ, Wu CW, Onuchic-Whitford AC, Shril S, Schneider S, Schierbaum L, Dai R, Bekheirnia MR, Joosten M, Shlomovitz O, Vivante A, Banne E, Mane S, Lifton RP, Kirschner KM, Kispert A, Rosenberger G, Fischer KD, Lienkamp SS, Zegers MMP, Hildebrandt FJournal of the American Society of Nephrology : JASNGenetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. J Am Soc Nephrol. 2023 02 01; 34(2):273-290.J Am Soc Nephrol2023-02-01T00:00:002023Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.36239278Ben Moshe Y, Bekheirnia N, Smith RJH, Hicks J, Braun MC, Bekheirnia MRAmerican journal of medical genetics. Part C, Seminars in medical geneticsGenetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic. Am J Med Genet C Semin Med Genet. 2022 Sep; 190(3):302-308.Am J Med Genet C Semin Med Genet2022-10-14T00:00:002022Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic.Authorship 106876119Authorship 106772311Authorship 10677801237034625Paul MS, Michener SL, Pan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Pichon JL, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Pichon AD, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Network UD, Bacino CA, Lee BH, Chao HTmedRxiv : the preprint server for health sciencesRare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy. medRxiv. 2023 Mar 29.medRxiv2023-03-29T00:00:002023Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.37035301Yu S, Choi YJ, Rim JH, Kim HY, Bekheirnia N, Swartz SJ, Dai H, Gu SL, Lee S, Nishinakamura R, Hildebrandt F, Bekheirnia MR, Gee HYFrontiers in medicineDisease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes. Front Med (Lausanne). 2023; 10:1089159.Front Med (Lausanne)2023-03-23T00:00:002023Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes.37092538von Wintzingerode L, Ben-Zeev B, Cesario C, Chan KM, Depienne C, Elpeleg O, Iascone M, Kelley WV, Nassogne MC, Niceta M, Pezzani L, Rahner N, Revencu N, Bekheirnia MR, Santiago-Sim T, Tartaglia M, Thompson ML, Trivisano M, Hentschel J, Sticht H, Abou Jamra R, Oppermann HGenetics in medicine : official journal of the American College of Medical GeneticsDe novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy. Genet Med. 2023 Jul; 25(7):100859.Genet Med2023-04-20T00:00:002023De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.Authorship 1085899638154379Li N, Xu Y, Chen H, Lin J, AlAbdi L, Bekheirnia MR, Li G, Gofin Y, Bekheirnia N, Faqeih E, Chen L, Chang G, Tang J, Yao R, Yu T, Wang X, Fu W, Fu Q, Shen Y, Alkuraya FS, Machol K, Wang JEBioMedicineBi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities. EBioMedicine. 2024 Jan; 99:104940.EBioMedicine2023-12-27T00:00:002023Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.Authorship 10862751238181735Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomm?-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Undiagnosed Diseases Network, Bacino CA, Lee BH, Chao HTAmerican journal of human geneticsA syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Jan 04; 111(1):96-118.Am J Hum Genet2024-01-04T00:00:002024A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.Authorship 10897432038429302Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz ?, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A, TUDP consortium, Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger ACNPJ genomic medicineBi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ Genom Med. 2024 Mar 01; 9(1):18.NPJ Genom Med2024-03-01T00:00:002024Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.Authorship 1090012638438854Walimbe AS, Machol K, Kralik SF, Mizerik EA, Gofin Y, Bekheirnia MR, Gijavanekar C, Elsea SH, Emrick LT, Scaglia FBMC neurologyExpanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report. BMC Neurol. 2024 Mar 04; 24(1):87.BMC Neurol2024-03-04T00:00:002024Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.Authorship 10914001238508193Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Perne C, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomm?-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Banos-Pinero B, Pagnamenta AT, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Undiagnosed Diseases Network, Bacino CA, Lee BH, Chao HTAmerican journal of human geneticsA syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Mar 19.Am J Hum Genet2024-03-19T00:00:002024A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.true1ProfessorProfessorAuthorship 205553Authorship 22482Authorship 276244WOLFGANGWINKELMAYERWOLFGANG WINKELMAYER7258WINKELMAYER, WOLFGANGProfessorAuthorship 63501Authorship 922564Authorship 943951Authorship 791922Authorship 15627522