Gianina Ravenscroft

Also affiliated with Harry Perkins Institute of Medical Research, 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 5%percentile

0.461Author DataRank

Indexed papers

2in 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 2 indexed papers 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 →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Population-scale variability at short tandem repeat loci reveals pathogenicity signature

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.01.06.631535

Top 41%

0.461DataRank

Top 41%11 citations

Isaac Xu, Sarah Fazal, Egor Dolzhenko, David Pellerin, Ben Weisburd +30 more

Papers

Driven by 26 papers — median percentile 59. 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

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

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

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines

Clinical Genetics(2024)10.1111/cge.14533

N/A

0.568DataRank · unranked

43 citations

Pilar Camaño, Sarah Burton‐Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier +16 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

Population-scale variability at short tandem repeat loci reveals pathogenicity signature

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.01.06.631535

Top 41%

0.461DataRank

Top 41%11 citations

Isaac Xu, Sarah Fazal, Egor Dolzhenko, David Pellerin, Ben Weisburd +30 more

Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

Brain(2024)10.1093/brain/awae312

N/A

0.425DataRank · unranked

16 citations

Jean‐Loup Méreaux, Susana Boluda, Matt C. Danzi, Marie-Josée Dicaire, Claire-Sophie Davoine +32 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

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

A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R

Journal of Bone and Mineral Research(2025)10.1093/jbmr/zjaf134

N/A

0.104DataRank · unranked

1 citations

Jakob Höppner, H. Jüppner, Audrey Rick, Elyshia McNamara, William Tee +9 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

0.104DataRank · unranked

1 citations

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

Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

medRxiv(2024)10.1101/2024.07.01.24309777

N/A

0DataRank · unranked

3 citations

Jean‐Loup Méreaux, Susana Boluda, Matt C. Danzi, Marie-Josée Dicaire, Claire-Sophie Davoine +32 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

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

FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum

Journal of Medical Genetics(2022)10.1136/jmedgenet-2021-108341

N/A

0DataRank · unranked

4 citations

Cheryl Longman, Maria Elena Farrugia, S. Kapetanovic García, Didem Ardıçlı, Haluk Topaloğlu +15 more

Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.07.21.501000

N/A

0DataRank · unranked

0 citations

Remi Joseph, Pierre Michael Jean-Beltran, Namrata D. Udeshi, Cadence Pearce, Hanjie Jiang +9 more

Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset

eLife(2023)10.7554/elife.81966

N/A

0DataRank · unranked

16 citations

Remi Joseph, Euri S Kim, Pierre M. Jean Beltran, Namrata D. Udeshi, Cadence Pearce +13 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

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

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

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

Gianina Ravenscroft

Indexed papers

Top data-sharing exemplar

Papers