Reza Maroofian
Overview
Explore the profile of Reza Maroofian including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
236
Citations
2327
Followers
0
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Vincke L, Van Schil K, Ahmadieh H, Moghaddasi A, Sabbaghi H, Daftarian N, et al.
NPJ Genom Med
. 2025 Mar;
10(1):19.
PMID: 40055385
An integrated approach combining whole exome sequencing (WES) and autozygosity mapping was used to molecularly diagnose inherited retinal disease (IRD) in 192 unrelated Iranian families, 76.1% of which originate from...
2.
Thomas H, Demain L, Cabrera-Orefice A, Schrauwen I, Shamseldin H, Rea A, et al.
Am J Hum Genet
. 2025 Mar;
PMID: 40043708
Combined oxidative phosphorylation deficiency (COXPD) is a rare multisystem disorder that is clinically and genetically heterogeneous. Genome sequencing identified bi-allelic MRPL49 variants in individuals from nine unrelated families with presentations...
3.
Abdel-Hamid M, Paimboeuf A, Zaki M, Figueiredo F, Abdel-Ghafar S, Maher S, et al.
Brain Commun
. 2025 Mar;
7(1):fcaf055.
PMID: 40040844
RNA polymerase III transcribes essential non-coding RNAs, a process regulated by transcription factors TFIIIB and TFIIIC. Although germline variants in TFIIIC subunit genes have been described in a few patients...
4.
Rocca C, Murphy D, Clarkson C, Zanovello M, Gagliardi D, Genomics Q, et al.
Genes (Basel)
. 2025 Feb;
16(2).
PMID: 40004498
Background/objectives: Short tandem repeat expansions are the most common cause of inherited neurological diseases. These disorders are clinically and genetically heterogeneous, such as in myotonic dystrophy and spinocerebellar ataxia, and...
5.
Kaiyrzhanov R, Thompson K, Efthymiou S, Mukushev A, Zharylkassyn A, Prasad C, et al.
Brain Commun
. 2025 Feb;
7(1):fcae453.
PMID: 39963288
Biallelic variants in NADH (nicotinamide adenine dinucleotide (NAD) + hydrogen (H))-ubiquinone oxidoreductase 1 alpha subcomplex 13 have been linked to mitochondrial complex I deficiency, nuclear type 28, based on three...
6.
Dharmadhikari A, Abad M, Khan S, Maroofian R, Sands T, Ullah F, et al.
Nat Commun
. 2025 Feb;
16(1):1703.
PMID: 39962046
SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignment. Aided by...
7.
El-Dessouky S, Sharaf-Eldin W, Aboulghar M, Mousa H, Zaki M, Maroofian R, et al.
Clin Genet
. 2025 Feb;
PMID: 39891418
To evaluate the diagnostic yield of prenatal exome sequencing (pES) in fetuses with structural anomalies detected by prenatal ultrasound in a consanguineous population. This was a prospective study of 244...
8.
Buchert R, Burkhalter M, Huridou C, Sofan L, Roser T, Cremer K, et al.
Am J Hum Genet
. 2025 Jan;
112(2):374-393.
PMID: 39824192
Nutrient-dependent mTORC1 regulation upon amino acid deprivation is mediated by the KICSTOR complex, comprising SZT2, KPTN, ITFG2, and KICS2, recruiting GATOR1 to lysosomes. Previously, pathogenic SZT2 and KPTN variants have...
9.
Semenova S, Nammi D, Garrett G, Margolin G, Sinclair J, Maroofian R, et al.
bioRxiv
. 2025 Jan;
PMID: 39803460
Defects in DNA single-strand break repair are associated with neurodevelopmental and neurodegenerative disorders. One such disorder is that resulting from mutations in , a scaffold protein that plays a central...
10.
Zhang K, Manning A, Lentini J, Howard J, Dalwigk F, Maroofian R, et al.
Cell Rep
. 2025 Jan;
44(1):115092.
PMID: 39786990
The tRNA methyltransferase 1 (TRMT1) enzyme catalyzes the N2,N2-dimethylguanosine (m2,2G) modification in tRNAs. Intriguingly, vertebrates encode an additional tRNA methyltransferase 1-like (TRMT1L) paralog. Here, we use a comprehensive tRNA sequencing...