Mir Reza Bekheirnia
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Explore the profile of Mir Reza Bekheirnia including associated specialties, affiliations and a list of published articles.
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44
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2365
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Recent Articles
1.
Du H, Szafranski P, Gerard A, Azamian M, Bi W, Bekheirnia M, et al.
Am J Med Genet A
. 2025 Mar;
:e64036.
PMID: 40062706
Clark-Baraitser syndrome is a rare neurodevelopmental disorder associated with the E3 ubiquitin-protein ligase gene TRIP12. Using chromosomal microarray analysis (CMA), long-range PCR, breakpoint sequencing, and RNA analyses, we studied a...
2.
Ames E, Anand P, Bekheirnia M, Doshi M, El Ters M, Freese M, et al.
Am J Transplant
. 2024 Nov;
25(2):237-249.
PMID: 39488252
The increasing availability of clinically approved genetic tests for kidney disease has spurred the growth in the use of these tests in kidney transplant practice. Neither the testing options nor...
3.
Paul M, Michener S, Pan H, Chan H, Pfliger J, Rosenfeld J, et al.
Am J Hum Genet
. 2024 May;
111(6):1239.
PMID: 38723631
No abstract available.
4.
Paul M, Michener S, Pan H, Chan H, Pfliger J, Rosenfeld J, et al.
Am J Hum Genet
. 2024 Mar;
111(4):805.
PMID: 38508193
No abstract available.
5.
Walimbe A, Machol K, Kralik S, Mizerik E, Gofin Y, Bekheirnia M, et al.
BMC Neurol
. 2024 Mar;
24(1):87.
PMID: 38438854
Background: RARS2-related mitochondrial disorder is an autosomal recessive mitochondrial encephalopathy caused by biallelic pathogenic variants in the gene encoding the mitochondrial arginyl-transfer RNA synthetase 2 (RARS2, MIM *611524, NM_020320.5). RARS2...
6.
Stegmann J, Kalanithy J, Dworschak G, Ishorst N, Mingardo E, Lopes F, et al.
NPJ Genom Med
. 2024 Mar;
9(1):18.
PMID: 38429302
CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum...
7.
Paul M, Michener S, Pan H, Chan H, Pfliger J, Rosenfeld J, et al.
Am J Hum Genet
. 2024 Jan;
111(1):96-118.
PMID: 38181735
PPFIA3 encodes the protein-tyrosine phosphatase, receptor-type, F-polypeptide-interacting-protein-alpha-3 (PPFIA3), which is a member of the LAR-protein-tyrosine phosphatase-interacting-protein (liprin) family involved in synapse formation and function, synaptic vesicle transport, and presynaptic active...
8.
Li N, Xu Y, Chen H, Lin J, AlAbdi L, Bekheirnia M, et al.
EBioMedicine
. 2023 Dec;
99:104940.
PMID: 38154379
Background: Pathogenic variants in the centrosome protein (CEP) family have been implicated in primary microcephaly, Seckel syndrome, and classical ciliopathies. However, most CEP genes remain unlinked to specific Mendelian genetic...
9.
von Wintzingerode L, Ben-Zeev B, Cesario C, Chan K, Depienne C, Elpeleg O, et al.
Genet Med
. 2023 Apr;
25(7):100859.
PMID: 37092538
Purpose: The study aimed to clinically and molecularly characterize the neurodevelopmental disorder associated with heterozygous de novo variants in CNOT9. Methods: Individuals were clinically examined. Variants were identified using exome...
10.
Yu S, Choi Y, Rim J, Kim H, Bekheirnia N, Swartz S, et al.
Front Med (Lausanne)
. 2023 Apr;
10:1089159.
PMID: 37035301
Introduction: Mutations in cause nephronophthisis-related ciliopathies (NPHP-RC), which are characterized by multiple developmental defects and kidney diseases. Patients with NPHP-RC usually have normal glomeruli and negligible or no proteinuria. Herein,...