Nigel G. Laing

Harry Perkins Institute of Medical Research

Also affiliated with Queen Elizabeth II Medical Centre

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

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

1in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Papers

Driven by 19 papers. Top paper: “Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia”.

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

New England Journal of Medicine(2022)10.1056/nejmoa2207406

N/A

0.831DataRank · unranked

253 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

0.626DataRank · unranked

64 citations

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

0.533DataRank · unranked

34 citations

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

Investigation of changes in skeletal muscle α-actin expression in normal and pathological human and mouse hearts

Journal of Muscle Research and Cell Motility(2010)10.1007/s10974-010-9224-7

N/A

0.494DataRank · unranked

26 citations

Kristen J. Nowak, Nigel G. Laing, Gianina Ravenscroft, Andrew E. Messer, Christopher R. Bayliss +2 more

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.008

N/A

0.489DataRank · unranked

25 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

Genetics in Medicine(2024)10.1016/j.gim.2024.101336

N/A

0.365DataRank · unranked

7 citations

Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin‐Tse +34 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

0.345DataRank · unranked

9 citations

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

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

medRxiv(2023)10.1101/2023.10.05.23296595

N/A

0DataRank · unranked

1 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 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

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model

Brain(2024)10.1093/brain/awae371

N/A

0DataRank · unranked

5 citations

Lee B. Miles, Yoshihiko Saito, Eloy Rivas, Vanessa Calcinotto, Sara Oveissi +36 more

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

medRxiv(2024)10.1101/2024.02.11.24302646

N/A

0DataRank · unranked

0 citations

Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin‐Tse +34 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

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

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Nature Communications(2020)10.1038/s41467-020-18327-6

N/A

0DataRank · unranked

101 citations

Yu Kigoshi-Tansho, Roger B. Sher, Gianina Ravenscroft, Jennifer E. Stauffer, Rajesh Kumar +23 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

Haploinsufficiency of SF3B2 causes craniofacial microsomia

Nature Communications(2021)10.1038/s41467-021-24852-9

N/A

0DataRank · unranked

89 citations

Casey Griffin, Carrie L. Heike, Anne Hing, Michael L. Cunningham, David Chitayat +24 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

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

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