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

Hoda Tomoum

Ain Shams University

ORCID: 0000-0002-7781-7532

Also affiliated with Ain Shams University Hospital

MedicineBiochemistry, Genetics and Molecular Biology

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 4 papers. Top paper: “A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome”.

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

European Journal of Human Genetics(2020)10.1038/s41431-020-00717-5
N/A
0DataRank · unranked
18 citations

Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang +42 more

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

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

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects

Brain(2024)10.1093/brain/awae299
N/A
0DataRank · unranked
3 citations

Guillermo Rodríguez Bey, Purvi Majethia, Parneet Kaur, Siddaramappa J. Patil, Minal Kekatpure +18 more