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

Samantha J. Bryen

Garvan Institute of Medical Research

ORCID: 0000-0002-4140-8622

Also affiliated with Murdoch Children's Research Institute

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 7 papers. Top paper: “Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy”.

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

European Journal of Human Genetics(2020)10.1038/s41431-020-00715-7
N/A
0DataRank · unranked
14 citations

Emily C. Oates, Frances J. Evesson, Jessica K. Lu, Leigh B. Waddell, Himanshu Joshi +7 more

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100125
N/A
0DataRank · unranked
11 citations

Michaela Yuen, Himanshu Joshi, Ruebena Dawes, Katharine Zhang, Jessica K. Lu +8 more

SpliceVault predicts the precise nature of variant-associated mis-splicing

Nature Genetics(2023)10.1038/s41588-022-01293-8
N/A
0DataRank · unranked
94 citations

Adam Bournazos, Samantha J. Bryen, Shobhana Bommireddipalli, Rhett G. Marchant, Himanshu Joshi +2 more

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1 ‐related disorders

Clinical Genetics(2023)10.1111/cge.14311
N/A
0DataRank · unranked
8 citations

Katharine Zhang, Gregory Dziaduch, Shobhana Bommireddipalli, Take Naseri, Muagututi‘a Sefuiva Reupena +8 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829
N/A
0DataRank · unranked
8 citations

Gabrielle Lemire, Maha S. Zaki, Mariel Wissman, Wathone Win, S. White +70 more

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761
N/A
0DataRank · unranked
189 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.52041
N/A
0DataRank · unranked
23 citations

Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett +25 more