TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Pediatrics
Address1102 BATES
Houston, TX 77030
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    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.
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    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. 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 Apr 26; 8830738211006507. PMID: 33900143.
      Citations:    Fields:    
    2. Rosenfeld JA, Xiao R, Bekheirnia MR, Kanani F, Parker MJ, Koenig MK, van Haeringen A, Ruivenkamp C, Rosmaninho-Salgado J, Almeida PM, Sá J, Pinto Basto J, Palen E, Oetjens KF, Burrage LC, Xia F, Liu P, Eng CM, Yang Y, Posey JE, Lee BH. Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 Jul; 185(7):2037-2045. PMID: 33847457.
      Citations:    Fields:    
    3. Zarate 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 RV. Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. Clin Genet. 2021 Apr; 99(4):547-557. PMID: 33381861.
      Citations:    Fields:    
    4. 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, 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.
      Citations:    Fields:    
    5. Bekheirnia MR, Bekheirnia N. Handbook of Adult Genetics and Genomics: Shweta Dhar, Sandesh Sreenath Nagamani, Tanya Eble. Renal Genetics. 2020. View Publication.
    6. 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:    
    7. 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
    8. 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.
      Citations: 2     Fields:    Translation:HumansCells
    9. 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.
      Citations: 3     Fields:    Translation:HumansAnimals
    10. 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, 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, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316. PMID: 31256877.
      Citations: 8     Fields:    Translation:Humans
    11. 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.
      Citations: 4     Fields:    Translation:Humans
    12. 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.
      Citations: 2     Fields:    Translation:Humans
    13. 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.
      Citations: 12     Fields:    Translation:HumansCells
    14. 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.
      Citations: 25     Fields:    Translation:Humans
    15. 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.
      Citations: 483     Fields:    Translation:Humans
    16. 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.
      Citations: 699     Fields:    Translation:Humans
    17. 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: 5     Fields:    Translation:Humans
    18. 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.
      Citations: 57     Fields:    Translation:HumansCells
    19. 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: 24     Translation:Humans
    20. 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: 17     Fields:    Translation:Humans
    21. 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.
      Citations: 63     Fields:    Translation:Humans
    22. 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.
      Citations: 20     
    23. 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.
      Citations: 16     Fields:    Translation:HumansCells
    24. 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: 6     Fields:    Translation:Humans
    25. 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
    26. 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: 4     Fields:    Translation:Humans
    27. 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: 36     Fields:    Translation:HumansPHPublic Health
    28. 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.
      Citations: 11     Fields:    Translation:HumansPHPublic HealthCTClinical Trials
    29. 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: 5     Fields:    Translation:Humans
    30. 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: 12     Fields:    Translation:Humans
    31. 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.
      Citations: 42     Fields:    
    32. 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: 7     Fields:    
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