Phillipa J. Lamont

NeuroscienceBiochemistry, 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 10 papers. Top paper: “Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion”.

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

The genetic landscape of axonal neuropathies in the middle-aged and elderly

Neurology(2020)10.1212/wnl.0000000000011132

N/A

0DataRank · unranked

31 citations

Petra Laššuthová, Dagmara Kabzińska, Lisa Abreu, Jonathan Baets, Christian Beetz +52 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

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

New England Journal of Medicine(2022)10.1056/nejmoa2207406

N/A

0DataRank · unranked

251 citations

Matt C. Danzi, Carlo Wilke, M. Renaud, Sarah Fazal, Marie‐Josée Dicaire +46 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

Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy

Human Mutation(2022)10.1002/humu.24393

N/A

0DataRank · unranked

7 citations

Ana M. Meireles, Chiara Folland, Elyshia McNamara, Nigel G. Laing, Phillipa J. Lamont +3 more

A common flanking variant is associated with enhanced meiotic stability of the FGF14 -SCA27B locus

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.11.540430

N/A

0DataRank · unranked

9 citations

Giulia Gobbo, Madeline Couse, Egor Dolzhenko, Marie‐Josée Dicaire, Stephan Züchner +18 more

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

Nature Genetics(2024)10.1038/s41588-024-01808-5

N/A

0DataRank · unranked

34 citations

Giulia Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji Nageshwaran, Warren Cheung +95 more

Neuroradiological findings in GAA- FGF14 ataxia (SCA27B): more than cerebellar atrophy

medRxiv(2024)10.1101/2024.02.16.24302945

N/A

0DataRank · unranked

9 citations

Catherine Ashton, Rawan Sakalla, Guillemette Clément, Sophie Planel, Céline Bonnet +22 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