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

M. Leach

Newcastle University

ORCID: 0009-0007-5599-3512
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 CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections”.

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Genetics in Medicine(2023)10.1016/j.gim.2023.101023
N/A
0.373DataRank · unranked
11 citations

Emily K. Mis, Kirsty McWalter, Sandra Donkervoort, Nina N. Brodsky, Jean-Marie Carpier +95 more

Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy

Neurology Genetics(2024)10.1212/nxg.0000000000200148
N/A
0.280DataRank · unranked
4 citations

Pomi Yun, M. Leach, Sarah Neuhaus, G. Averion, Ying Hu +17 more

Hypoglycemia in patients with congenital muscle disease

BMC Pediatrics(2020)10.1186/s12887-020-1909-5
N/A
0DataRank · unranked
16 citations

Pomi Yun, Payam Mohassel, Gina Norato, Sandra Donkervoort, M. Leach +6 more

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

medRxiv(2024)10.1101/2024.03.29.24304673
N/A
0DataRank · unranked
2 citations

Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach +64 more

Differential inclusion of NEB exons 143 and 144 provides insight into NEB -related myopathy variant interpretation and disease manifestation

medRxiv(2024)10.1101/2024.03.25.24304535
N/A
0DataRank · unranked
0 citations

Rotem Orbach, Safoora Syeda, A. Reghan Foley, Svetlana Gorokhova, Katherine G. Meilleur +6 more

Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100354
N/A
0DataRank · unranked
0 citations

Rotem Orbach, Safoora Syeda, A. Reghan Foley, Svetlana Gorokhova, Katherine G. Meilleur +6 more