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

Fatemeh Eghbal

ORCID: 0000-0002-5444-1245
Biochemistry, Genetics and Molecular BiologyMedicine

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 6 papers. Top paper: “Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum”.

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

Genetics in Medicine(2024)10.1016/j.gim.2024.101273
N/A
0.373DataRank · unranked
11 citations

Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano +62 more

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.10.002
N/A
0DataRank · unranked
2 citations

Sheng‐Jia Lin, Reza Maroofian, Alper Gezdirici, Hamoud Alhebby, Aurélien Trimouille +30 more

An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.01.09.574708
N/A
0DataRank · unranked
3 citations

Leqian Yu, Barbara Vona, Dayea Park, Yulei Wei, Daniel A. Schmitz +30 more

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

medRxiv(2024)10.1101/2024.02.09.24302464
N/A
0DataRank · unranked
2 citations

Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano +57 more

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Nature Genetics(2025)10.1038/s41588-025-02361-5
N/A
0DataRank · unranked
3 citations

Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Boris Bouazza‐Arostegui +95 more

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy

Genetics in Medicine(2025)10.1016/j.gim.2025.101506
N/A
0DataRank · unranked
3 citations

Chu-Ting Chang, A. Declève, Gloria Brunori, W.H. Ludlam, Alden Huang +93 more