Richard Roxburgh

Also affiliated with Auckland City Hospital

NeuroscienceMedicineBiochemistry, 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 5 papers. Top paper: “104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)”.

104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)

Journal of Neurology(2024)10.1007/s00415-024-12236-0

N/A

0.803DataRank · unranked

28 citations

Priya S. Kishnani, Drago Bratkovic, Barry J. Byrne, Kristl G. Claeys, Jordi Díaz‐Manera +79 more

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Brain(2020)10.1093/brain/awz418

N/A

0DataRank · unranked

221 citations

Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J. Beecroft, Zane Jaunmuktane +37 more

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.11.18.469113

N/A

0DataRank · unranked

8 citations

Brent S. Pedersen, Laurel Hiatt, Joe Brown, Sarah J. Beecroft, Gianina Ravenscroft +9 more

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

Genome biology(2022)10.1186/s13059-022-02826-4

N/A

0DataRank · unranked

64 citations

Brent S. Pedersen, Laurel Hiatt, Joe Brown, Sarah J. Beecroft, Gianina Ravenscroft +9 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