MirRezaBekheirniaMD

PubMed

• Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.
  Ameya S Walimbe, Keren Machol, Stephen F Kralik, Elizabeth A Mizerik, Yoel Gofin, Mir Reza Bekheirnia, Charul Gijavanekar, Sarah H Elsea, Lisa T Emrick, Fernando Scaglia> ;BMC Neurology. 2024 Mar 4
• Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
  Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz...> ;NPJ Genomic Medicine. 2024 Mar 1
• A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
  Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Jill A Rosenfeld, Vanesa C Lerma, Alyssa Tran, Megan A Longley, Richard A Lewis, Moni...> ;American Journal of Human Genetics. 2024 Jan 4
• Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacia...
  Li, N., Xu, Y., Chen, H., Lin, J., AlAbdi, L., Bekheirnia, M., Li, G., Gofin, Y., Bekheirnia, N., Faqeih, E., Chen, L., Chang, G., Tang, J., Yao, R., Yu, T., Wang, X.,...> ;Ebiomedicine. 2024 Jan 1
• De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
  Lydia von Wintzingerode, Bruria Ben-Zeev, Claudia Cesario, Katie M Chan, Christel Depienne, Orly Elpeleg, Maria Iascone, Whitley V Kelley, Marie-Cécile Nassogne, Marce...> ;Genetics in Medicine. 2023 Jul 1
• 1 citations
  Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes.
  Seyoung Yu, Yo Jun Choi, John Hoon Rim, Hye-Youn Kim, Nasim Bekheirnia, Sarah Jane Swartz, Hongzheng Dai, Shen Linda Gu, Soyeon Lee, Ryuichi Nishinakamura, Friedhelm H...> ;Frontiers in Medicine. 2023 Jan 1
• 1 citations
  Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
  Verena Klämbt, Florian Buerger, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth, Anna-Carina Weiss, Tobias Sieckmann, Ethan Lai, Dervla M Connaughton, Steve S...> ;Journal of the American Society of Nephrology. 2023 Feb 1
• 2 citations
  Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic.
  Yishay Ben Moshe, Nasim Bekheirnia, Richard J H Smith, John Hicks, Michael C Braun, Mir Reza Bekheirnia> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2022 Sep 1
• Introduction to special issue for kidney genetics.
  Mir Reza Bekheirnia> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2022 Sep 1
• 65 citations
  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
  Mir Reza Bekheirnia, Nasim Bekheirnia, Matthew N. Bainbridge, Shen Gu, Zeynep Coban Akdemir, Tomek Gambin, Nicolette K. Janzen, Shalini N. Jhangiani, Donna M. Muzny, M...> ;Genetics in Medicine. 2017 Apr 1
• 9 citations
  DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
  Alexandria T M Blackburn, Nasim Bekheirnia, Vanessa C Uma, Mark E Corkins, Yuxiao Xu, Jill A Rosenfeld, Matthew N Bainbridge, Yaping Yang, Pengfei Liu, Suneeta Madan-K...> ;Genetics in Medicine. 2019 Dec 1
• 1384 citations
  Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
  Yaping Yang, Donna M. Muzny, Jeffrey G. Reid, Matthew N. Bainbridge, Alecia Willis, Patricia A. Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu, Matthew T. Hardi...> ;The New England Journal of Medicine. 2013 Oct 16
• 3 citations
  Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood.
  Joseph L Alge, Nasim Bekheirnia, Alexandra R Willcockson, Xiang Qin, Steven E Scherer, Michael C Braun, Mir Reza Bekheirnia> ;Pediatric Nephrology. 2023 Mar 1
• 3 citations
  Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
  Margot A Cousin, Emma L Veale, Nikita R Dsouza, Swarnendu Tripathi, Robyn G Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Ma...> ;Genome Medicine. 2022 Jun 13
• 4 citations
  Lupus Nephritis, Autoantibody Production and Kidney Outcomes in Males with Childhood-Onset Systemic Lupus Erythematosus.
  Scott E Wenderfer, Alvaro Orjuela, Mir Reza Bekheirnia, Maria Pereira, Eyal Muscal, Michael C Braun, Marietta De Guzman> ;Pediatric Reports. 2022 May 6
• 3 citations
  Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy.
  Jaehyung Lim, Brian J. Shayota, Erica Lay, Sarah H. Elsea, Mir Reza Bekheirnia, Mary Elizabeth M. Tessier, Stephen F. Kralik, Gregory M. Rice, Claudia Soler-Alfonso, F...> ;Journal of Child Neurology. 2021 Apr 26
• 8 citations
  Heterozygous variants in SPTBN1 cause intellectual disability and autism
  Jill A. Rosenfeld, Rui Xiao, Mir Reza Bekheirnia, Farah Kanani, Michael Parker, Mary Kay Koenig, Arie van Haeringen, Claudia A. L. Ruivenkamp, Joana Rosmaninho-Salgado...> ;American Journal of Medical Genetics. Part A. 2021 Apr 13
• 4 citations
  Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
  Nasim Bekheirnia, Kevin E Glinton, Linda Rossetti, Joshua Manor, Wuyan Chen, Dolores J Lamb, Michael C Braun, Mir Reza Bekheirnia> ;Kidney360. 2021 Jan 28
• 7 citations
  Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
  Yuri A. Zarate, Katherine A. Bosanko, Mary Ann Thomas, David T. Miller, Kristina Cusmano-Ozog, Antonio Martinez-Monseny, Cynthia J. Curry, John M. Graham, Lea Velsher,...> ;Clinical Genetics. 2021 Apr 1
• 11 citations
  Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported...
  Linda Z. Rossetti, Mir Reza Bekheirnia, Andrea M. Lewis, Heather C Mefford, Katie Golden-Grant, Kristina Tarczy-Hornoch, Lauren C. Briere, David A. Sweetser, Melissa A...> ;Molecular Genetics & Genomic Medicine. 2021 Jan 1
• Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract (Genetics in Medicine, (2019), 21, ...
  Alexandria T.M. Blackburn, Nasim Bekheirnia, Vanessa C. Uma, Mark E. Corkins, Yuxiao Xu, Jill A. Rosenfeld, Matthew N. Bainbridge, Yaping Yang, Pengfei Liu, Suneeta Ma...> ;Genetics in Medicine. 2020 Apr 1
• 4 citations
  Nephronophthisis due to a novel DCDC2 variant in a patient from African-Caribbean descent: A case report.
  Brady Slater, Nasim Bekheirnia, Joseph Angelo, Weimen Bi, Michael C. Braun, Mir Reza Bekheirnia> ;American Journal of Medical Genetics. Part A. 2020 Mar 1
• 7 citations
  Characterization of the renal phenotype in RMND1-related mitochondrial disease.
  Brian J. Shayota, Nhon Thanh Le, Nasim Bekheirnia, Jill A. Rosenfeld, Amy Goldstein, Michael L. Moritz, Dennis Bartholomew, Matthew Pastore, Fan Xia, Christine M. Eng,...> ;Molecular Genetics & Genomic Medicine. 2019 Sep 30
• 46 citations
  Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;American Journal of Human Genetics. 2019 Aug 1
• 17 citations
  Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.
  Brian J. Shayota, Claudia Soler-Alfonso, Mir Reza Bekheirnia, Elizabeth Mizerik, Suzy W. Boyer, Rui Xiao, Yaping Yang, Sarah H. Elsea, Fernando Scaglia> ;American Journal of Medical Genetics. Part A. 2019 Mar 7
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