MIR REZA BEKHEIRNIA

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
vCardDownload vCard

    Collapse Biography 
    Collapse education and training
    BCM, Houston, TX07/2011Medical Genetics Residency
    BCM, Houston, TX07/2012Clinical Molecular Genetics Fellowship

    Collapse Overview 

    Collapse Research 
    Collapse research activities and funding
    PMhematuria     (Bekheirnia, Reza MD)Sep 1, 2018 - Sep 1, 2021
    BCM
    Precision Medicine award to study “Persistent isolated hematuria in children”
    Role Description: The goal of this study is to understand the contribution of genetic factors to persistent isolated hematuria in children.
    Role: PI

    WoodsLUTO     (Bekheirnia, Reza MD)Jul 1, 2017 - Jun 30, 2022
    Woods Family Foundation
    Genetics of lower urinary tract obstruction
    Role Description: The goal of this funding is to improve management of patients with lower urinary tract obstruction.
    Role: PI

    DK0083014     (Lamb, Dolores PhD)Jul 1, 2012 - Jul 1, 2018
    NIH
    Multidisciplinary K12 Urologic Research Career Development Program; M. R. Bekheirnia was a K12 scholar
    Role Description: The goal of this study is to understand the genetics of CAKUT.
    Role: K12 scholar

    Collapse Featured Content 
    Collapse Twitter

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Ames EG, Anand PM, Bekheirnia MR, Doshi MD, El Ters M, Freese ME, Gbadegesin RA, Guay-Woodford LM, Java A, Ranch D, Rodig NM, Wang X, Thomas CP. Evaluation for genetic disease in kidney transplant candidates: A practice resource. Am J Transplant. 2024 Oct 31. PMID: 39488252.
      Citations:    Fields:    
    2. Paul 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 ??? HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Jun 06; 111(6):1239. PMID: 38723631; PMCID: PMC11179399.
      Citations:    Fields:    
    3. Paul 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 HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Apr 04; 111(4):805. PMID: 38508193; PMCID: PMC11023915.
      Citations:    Fields:    
    4. Walimbe AS, Machol K, Kralik SF, Mizerik EA, Gofin Y, Bekheirnia MR, Gijavanekar C, Elsea SH, Emrick LT, Scaglia F. Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report. BMC Neurol. 2024 Mar 04; 24(1):87. PMID: 38438854; PMCID: PMC10910770.
      Citations:    Fields:    Translation:Humans
    5. Stegmann 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 AC. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ Genom Med. 2024 Mar 01; 9(1):18. PMID: 38429302; PMCID: PMC10907620.
      Citations: 1     
    6. Paul 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 HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 01 04; 111(1):96-118. PMID: 38181735; PMCID: PMC10806447.
      Citations: 4     Fields:    Translation:HumansAnimals
    7. Li 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 J. Bi-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. PMID: 38154379; PMCID: PMC10784679.
      Citations: 1     Fields:    Translation:HumansCells
    8. von Wintzingerode L, Ben-Zeev B, Cesario C, Depienne C, Elpeleg O, Iascone M, Nassogne MC, Niceta M, Pezzani L, Rahner N, Revencu N, Tartaglia M, Trivisano M, Hentschel J, Sticht H, Oppermann H, Chan KM, Kelley WV, Bekheirnia MR, Santiago-Sim T, Thompson ML, Abou Jamra R. De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy. Genet Med. 2023 07; 25(7):100859. PMID: 37092538.
      Citations:    Fields:    Translation:Humans
    9. Paul 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 HT. Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy. medRxiv. 2023 Mar 29. PMID: 37034625; PMCID: PMC10081396.
      Citations:    
    10. Yu S, Choi YJ, Rim JH, Kim HY, Bekheirnia N, Swartz SJ, Dai H, Gu SL, Lee S, Nishinakamura R, Hildebrandt F, Bekheirnia MR, Gee HY. Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes. Front Med (Lausanne). 2023; 10:1089159. PMID: 37035301; PMCID: PMC10079903.
      Citations:    
    11. Kl?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 F. Genetic 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. PMID: 36414417; PMCID: PMC10103091.
      Citations:    Fields:    Translation:HumansAnimals
    12. Ben Moshe Y, Bekheirnia N, Smith RJH, Hicks J, Braun MC, Bekheirnia MR. Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic. Am J Med Genet C Semin Med Genet. 2022 09; 190(3):302-308. PMID: 36239278.
      Citations: 1     Fields:    Translation:Humans
    13. Bekheirnia MR. Introduction to special issue for kidney genetics. Am J Med Genet C Semin Med Genet. 2022 09; 190(3):261. PMID: 36218249.
      Citations:    Fields:    Translation:Humans
    14. Alge JL, Bekheirnia N, Willcockson AR, Qin X, Scherer SE, Braun MC, Bekheirnia MR. 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. PMID: 35759000.
      Citations:    Fields:    
    15. Cousin 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, Ferlini A, Gavrilova RH, Graham JM, Juusola J, Kant SG, Kayani S, Ketteler P, Koopmann TT, Kruisselbrink TM, Kuechler A, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, McLaughlin J, Murgia A, Narayanan V, Neuser S, Ognibene D, Platzer K, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EW, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Haack TB, Keren B, Kl?ckner C, Lambert L, Latypova X, Mignot C, Nava C, Nizon M, Park J, Poirsier C, Trentesaux AS. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome Med. 2022 06 13; 14(1):62. PMID: 35698242; PMCID: PMC9195326.
      Citations:    Fields:    Translation:Humans
    16. Wenderfer SE, Orjuela A, Bekheirnia MR, Pereira M, Muscal E, Braun MC, De Guzman M. Lupus Nephritis, Autoantibody Production and Kidney Outcomes in Males with Childhood-Onset Systemic Lupus Erythematosus. Pediatr Rep. 2022 May 06; 14(2):220-232. PMID: 35645367; PMCID: PMC9149811.
      Citations:    
    17. . Clinical 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. View Publication.
    18. Lim J, Shayota BJ, Lay E, Elsea SH, Bekheirnia MR, Tessier MEM, Kralik SF, Rice GM, Soler-Alfonso C, Scaglia F. Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy. J Child Neurol. 2021 09; 36(10):841-852. PMID: 33900143.
      Citations:    Fields:    Translation:Humans
    19. Rosenfeld JA, Xiao R, Bekheirnia MR, Kanani F, Parker MJ, Koenig MK, van Haeringen A, Ruivenkamp C, Pinto Basto J, Palen E, Oetjens KF, Burrage LC, Xia F, Liu P, Eng CM, Undiagnosed Diseases Network, Yang Y, Posey JE, Lee BH, Rosmaninho-Salgado J, Almeida PM, S? J. Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 07; 185(7):2037-2045. PMID: 33847457; PMCID: PMC11182376.
      Citations: 2     Fields:    Translation:Humans
    20. Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano-Ozog K, Curry CJ, Graham JM, Velsher L, Bekheirnia MR, Dedousis D, Mitchell AL, DiMarino AM, Riess A, Balasubramanian M, Fish JL, Caffrey AR, Fleischer N, Pierson TM, Lacro RV, Martinez-Monseny A, Seidel V. Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. Clin Genet. 2021 04; 99(4):547-557. PMID: 33381861.
      Citations: 2     Fields:    Translation:HumansCells
    21. Rossetti 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 MF. Missense 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. PMID: 33350591; PMCID: PMC7963417.
      Citations: 1     Fields:    Translation:Humans
    22. Bekheirnia N, Glinton KE, Rossetti L, Manor J, Chen W, Lamb DJ, Braun MC, Bekheirnia MR. Clinical 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. PMID: 35368817; PMCID: PMC8785738.
      Citations:    Translation:Humans
    23. BEKHEIRNIA MR, Bekheirnia N. Handbook of Adult Genetics and Genomics: Shweta Dhar, Sandesh Sreenath Nagamani, Tanya Eble. Renal Genetics. 2020. View Publication.
    24. Blackburn 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 MR. Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genet Med. 2020 Apr; 22(4):821. PMID: 31857706.
      Citations:    Fields:    
    25. Slater B, Bekheirnia N, Angelo J, Bi W, Braun MC, Bekheirnia MR. Nephronophthisis 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. PMID: 31821705.
      Citations: 1     Fields:    Translation:Humans
    26. Shayota 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 MR. Characterization of the renal phenotype in RMND1-related mitochondrial disease. Mol Genet Genomic Med. 2019 12; 7(12):e973. PMID: 31568715; PMCID: PMC6900359.
      Citations: 5     Fields:    Translation:HumansCells
    27. Blackburn 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 MR. DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genet Med. 2019 12; 21(12):2755-2764. PMID: 31263215; PMCID: PMC6895419.
      Citations: 7     Fields:    Translation:HumansAnimals
    28. Paine 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, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, 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 JR, Santer R, Wilichowski E, Wortmann SB. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316. PMID: 31256877; PMCID: PMC6698803.
      Citations: 16     Fields:    Translation:Humans
    29. Shayota BJ, Soler-Alfonso C, Bekheirnia MR, Mizerik E, Boyer SW, Xiao R, Yang Y, Elsea SH, Scaglia F. Case 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. PMID: 30848071; PMCID: PMC9873404.
      Citations: 8     Fields:    Translation:Humans
    30. Alge JL, Wenderfer SE, Hicks J, Bekheirnia MR, Schady DA, Kain JS, Braun MC. Hemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report. BMC Nephrol. 2017 Jul 18; 18(1):243. PMID: 28720077; PMCID: PMC5516385.
      Citations: 2     Fields:    Translation:Humans
    31. Webster E, Cho MT, Alexander N, Desai S, Naidu S, Bekheirnia MR, Lewis A, Retterer K, Juusola J, Chung WK. De 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. PMID: 27900362; PMCID: PMC5111011.
      Citations: 19     Fields:    Translation:HumansCells
    32. Bekheirnia 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 DJ. Whole-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. PMID: 27657687; PMCID: PMC5362362.
      Citations: 36     Fields:    Translation:Humans
    33. Yang 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 CM. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9. PMID: 25326635; PMCID: PMC4326249.
      Citations: 588     Fields:    Translation:Humans
    34. Yang 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 CM. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11. PMID: 24088041; PMCID: PMC4211433.
      Citations: 821     Fields:    Translation:Humans
    35. Bekheirnia MR, Zhang W, Eble T, Willis A, Shaibani A, Wong LJ, Scaglia F, Dhar SU. POLG 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. PMID: 22405928.
      Citations: 8     Fields:    Translation:Humans
    36. LeMaire 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 DM. Genome-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. PMID: 21909107; PMCID: PMC3244938.
      Citations: 78     Fields:    Translation:HumansCells
    37. Andrabi S, Bekheirnia MR, Robbins-Furman P, Lewis RA, Prior TW, Potocki L. SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction. Am J Med Genet A. 2011 May; 155A(5):1165-9. PMID: 21465659.
      Citations: 31     Fields:    Translation:Humans
    38. Reed B, Nobakht E, Dadgar S, Bekheirnia MR, Masoumi A, Belibi F, Yan XD, Cadnapaphornchai M, Schrier RW. Renal ultrasonographic evaluation in children at risk of autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2010 Jul; 56(1):50-6. PMID: 20452711.
      Citations: 19     Fields:    Translation:Humans
    39. Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, Schrier RW. Genotype-phenotype correlation in X-linked Alport syndrome. J Am Soc Nephrol. 2010 May; 21(5):876-83. PMID: 20378821; PMCID: PMC2865738.
      Citations: 85     Fields:    Translation:Humans
    40. Masoumi A, Reed-Gitomer B, Kelleher C, Bekheirnia MR, Schrier RW. Developments in the management of autosomal dominant polycystic kidney disease. Ther Clin Risk Manag. 2008 Apr; 4(2):393-407. PMID: 18728845; PMCID: PMC2504069.
      Citations: 22     
    41. Reed BY, McFann K, Bekheirnia MR, Reza Bekheirnia M, Nobakhthaghighi N, Nobkhthaghighi N, Masoumi A, Johnson AM, Shamshirsaz AA, Shamshiraz AA, Kelleher CL, Schrier RW. Variation in age at ESRD in autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2008 Feb; 51(2):173-83. PMID: 18215695; PMCID: PMC2747334.
      Citations: 18     Fields:    Translation:HumansCells
    42. Shamshirsaz 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 B. Bone mineral density in Iranian adolescents and young adults with beta-thalassemia major. Pediatr Hematol Oncol. 2007 Oct-Nov; 24(7):469-79. PMID: 17786783.
      Citations: 8     Fields:    Translation:Humans
    43. Nobakhthaghighi N, Kamgar M, Bekheirnia MR, McFann K, Estacio R, Schrier RW. Relationship 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. PMID: 17699346.
      Citations: 4     Fields:    Translation:Humans
    44. Bekheirnia MR, Schrier RW. Pathophysiology of water and sodium retention: edematous states with normal kidney function. Curr Opin Pharmacol. 2006 Apr; 6(2):202-7. PMID: 16483846.
      Citations: 5     Fields:    Translation:Humans
    45. Shamshirsaz AA, Shamshirsaz A, Reza Bekheirnia M, Bekheirnia RM, Kamgar M, Johnson AM, McFann K, Cadnapaphornchai M, Nobakhthaghighi N, Haghighi NN, Schrier RW. Autosomal-dominant polycystic kidney disease in infancy and childhood: progression and outcome. Kidney Int. 2005 Nov; 68(5):2218-24. PMID: 16221221.
      Citations: 38     Fields:    Translation:HumansPHPublic Health
    46. Shamshirsaz 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 B. The 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. PMID: 15469615; PMCID: PMC529260.
      Citations: 14     Fields:    Translation:HumansPHPublic HealthCTClinical Trials
    47. Larijani B, Bekheirnia MR, Soltani A, Khalili-Far A, Adibi H, Jalili RB. Bone mineral density is related to blood pressure in men. Am J Hum Biol. 2004 Mar-Apr; 16(2):168-71. PMID: 14994316.
      Citations: 7     Fields:    Translation:Humans
    48. Bekheirnia MR, Shamshirsaz AA, Kamgar M, Bouzari N, Erfanzadeh G, Pourzahedgilani N, Tabatabaie SM, Abdollah Shamshirsaz A, Kimiagar M, Ezzati F, Larijani B. Serum zinc and its relation to bone mineral density in beta-thalassemic adolescents. Biol Trace Elem Res. 2004 Mar; 97(3):215-24. PMID: 14997022.
      Citations: 16     Fields:    Translation:Humans
    49. Shamshirsaz AA, Bekheirnia MR, Kamgar M, Pourzahedgilani N, Bouzari N, Habibzadeh M, Hashemi R, Shamshirsaz AA, Aghakhani S, Homayoun H, Larijani B. Metabolic and endocrinologic complications in beta-thalassemia major: a multicenter study in Tehran. BMC Endocr Disord. 2003 Aug 12; 3(1):4. PMID: 12914670; PMCID: PMC194672.
      Citations: 51     Fields:    
    50. Broumand B, Shamshirsaz AA, Kamgar M, Hashemi R, Aiazi F, Bekheirnia M, Boozary N, Komeilian Z, Shamshirsaz AH, Tabatabaiee MR, Broumand V. Prevalence 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. PMID: 17660669.
      Citations: 8     Fields:    
    BEKHEIRNIA's Networks
    Click the
    Explore
    buttons for more information and interactive visualizations!
    Concepts (214)
    Explore
    _
    Co-Authors (54)
    Explore
    _
    Similar People (60)
    Explore
    _
    Same Department Expand Description
    Explore
    _
    Physical Neighbors
    _