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

Alan Pittman

St George's, University of London

ORCID: 0000-0002-8112-2987

MedicineNeuroscienceBiochemistry, 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 7 papers. Top paper: “Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy”.

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1387

N/A

0DataRank · unranked

4 citations

Alan Pittman, Swati Mummidivarpu, Ehsan Ghayoor Karimiani, Samantha Martinez, Isabella Moroni +7 more

Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia

Journal of Clinical Investigation(2021)10.1172/jci140625

N/A

0DataRank · unranked

39 citations

Marisa M. Brockmann, Jinye Dai, Sander Pajusalu, Burcu Atasu, Joaquín Campos +30 more

Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways

Nature Communications(2022)10.1038/s41467-022-32821-z

N/A

0DataRank · unranked

52 citations

Najim Lahrouchi, Aaron Isaacs, ThuyVy Duong, Luisa Foco, Farah Ahmed +95 more

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

Genetics in Medicine(2022)10.1016/j.gim.2022.11.001

N/A

0DataRank · unranked

30 citations

Madison Chilian, Ehsan Ghayoor Karimiani, Helga Progri, Daniela Buhaş, Melis Köse +17 more

Integrin α7 Mutations Are Associated With Adult‐Onset Cardiac Dysfunction in Humans and Mice

Journal of the American Heart Association(2022)10.1161/jaha.122.026494

N/A

0DataRank · unranked

21 citations

Andreia M. Nunes, Ariany Oliveira‐Santos, Marisela Dagda, Tatiana M. Fontelonga, Pamela Barraza‐Flores +19 more

Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways

UNC Libraries(2024)10.17615/fd32-ta79

N/A

0DataRank · unranked

0 citations

Massimiliano Cocca, Maria Pina Concas, T.V. Duong, L.-C. Weng, M. Gögele +95 more

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

Journal of Clinical Investigation(2025)10.1172/jci184474

N/A

0DataRank · unranked

0 citations

Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao, Renee Q. Lin, J. Parmar +76 more