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

Alison Male

Great Ormond Street Hospital

ORCID: 0000-0002-2631-5997

Also affiliated with University College London

Biochemistry, 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 3 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

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

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions

European Journal of Human Genetics(2025)10.1038/s41431-025-01916-8

N/A

0DataRank · unranked

2 citations

Xiaonan Zhao, Nichole Owen, Tom Evans, Muriel Holder‐Espinasse, Nayana Lahiri +28 more