Rhett G. Marchant

Also affiliated with Children's Medical Research Institute, Children's Hospital at Westmead

Biochemistry, Genetics and Molecular BiologyNeuroscience

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 4 papers. Top paper: “Genome Sequencing for Diagnosing Rare Diseases”.

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0.789DataRank · unranked

192 citations

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

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0.330DataRank · unranked

8 citations

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

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