🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Mina Zamani

National Hospital for Neurology and Neurosurgery

ORCID: 0000-0002-7005-3787

Also affiliated with University College London, New York University

Biochemistry, Genetics and Molecular BiologyNeuroscience

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile
0Author DataRank

Indexed papers

0in pilot corpus
datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 12 papers. Top paper: “Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals”.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

Genetics in Medicine(2022)10.1016/j.gim.2022.09.010
N/A
0DataRank · unranked
39 citations

Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi +82 more

Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics

Brain(2023)10.1093/brain/awad427
N/A
0DataRank · unranked
23 citations

Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha S. Zaki, Saeid Sadeghian +18 more

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

European Journal of Human Genetics(2023)10.1038/s41431-023-01410-z
N/A
0DataRank · unranked
10 citations

Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini +85 more

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder

Genetics in Medicine(2023)10.1016/j.gim.2023.101034
N/A
0DataRank · unranked
8 citations

Mina Zamani, Rauan Kaiyrzhanov, Lutz Liebmann, Ehsan Ghayoor Karimiani, Barbara Vona +28 more

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Brain(2023)10.1093/brain/awad301
N/A
0DataRank · unranked
7 citations

Sara A. Lewis, Somayeh Bakhtiari, Sandra H. Nordlie, Alex M. Pagnozzi, Helen Magee +55 more

PKHD1L1 , A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss

medRxiv(2023)10.1101/2023.10.08.23296081
N/A
0DataRank · unranked
3 citations

Pedro De‐la‐Torre, Mina Zamani, Hanjun Wang, Hina Khan, T. Morris +12 more

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101278
N/A
0DataRank · unranked
8 citations

Reza Maroofian, Stuart J Cannon, Muhannad Daana, Mina Zamani, Shamsul Ghani +55 more

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.015
N/A
0DataRank · unranked
7 citations

Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Reneé C. Lin +95 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

medRxiv(2024)10.1101/2024.01.09.23300329
N/A
0DataRank · unranked
1 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +67 more

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

medRxiv(2024)10.1101/2024.07.18.24310581
N/A
0DataRank · unranked
1 citations

Cailyn P Leo, Chenghong Deng, Kejia Zhang, Sheng‐Jia Lin, Reza Maroofian +75 more

Absolute quantification of mammalian microRNAs for therapeutic RNA cleavage and detargeting

RNA(2025)10.1261/rna.080566.125
N/A
0DataRank · unranked
5 citations

Jiayi Wang, Haiying Zheng, Jennifer A. Broderick, Nandagopal Ajaykumar, Mina Zamani +10 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Nature Communications(2025)10.1038/s41467-025-56876-w
N/A
0DataRank · unranked
2 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +77 more