Volker Straub

Newcastle upon Tyne Hospitals NHS Foundation Trust

Also affiliated with Rigshospitalet, Centre for Life, Muscular Dystrophy UK, NIHR Newcastle Biomedical Research Centre, Newcastle University

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 6%percentile

0.252Author 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 →

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

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.52127

Top 60%

0.252DataRank

Top 60%4 citations

Shannon McNulty, Courtney L Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers +25 more

Papers

Driven by 34 papers — median percentile 40. Top paper: “Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial”.

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

The Lancet Neurology(2021)10.1016/s1474-4422(21)00241-6

N/A

2.9DataRank · unranked

185 citations

Priya S. Kishnani, Hani Kushlaf, Shafeeq Ladha, Tahseen Mozaffar, Volker Straub +95 more

Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy

JAMA Network Open(2022)10.1001/jamanetworkopen.2021.44178

N/A

2.0DataRank · unranked

89 citations

Paula R. Clemens, Michela Guglieri, Edward C. Smith, Richard S. Finkel, M. Tulinius +92 more

Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy

Neurology(2024)10.1212/wnl.0000000000208112

N/A

1.5DataRank · unranked

71 citations

Jesse M. Damsker, Michela Guglieri, Paula R. Clemens, Seth J. Perlman, Edward C. Smith +39 more

Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease

Neurology(2022)10.1212/wnl.0000000000200746

N/A

1.2DataRank · unranked

48 citations

Richard J. Barohn, Barry J. Byrne, Özlem Göker-Alpan, Priya S. Kishnani, Shafeeq Ladha +19 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

Patient reported quality of life in limb girdle muscular dystrophy

Neuromuscular Disorders(2021)10.1016/j.nmd.2021.11.002

N/A

0.586DataRank · unranked

13 citations

Kameron Bates, Jeffrey Statland, Conrad C. Weihl, Peter B. Kang, Linda Lowes +6 more

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.002

N/A

0.578DataRank · unranked

46 citations

Carl Elias Kutzner, Ying Hu, Xavière Lornage, John Rendu, Tanya Stojkovic +42 more

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Nature Communications(2022)10.1038/s41467-022-30015-1

N/A

0.571DataRank · unranked

44 citations

Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin +53 more

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

Annals of Neurology(2020)10.1002/ana.25772

N/A

0.561DataRank · unranked

41 citations

Yaqun Zou, James E. Dunford, Jachinta Rooney, Goutam Chandra, Hui Xiong +29 more

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern

Acta Neuropathologica(2020)10.1007/s00401-019-02117-6

N/A

0.553DataRank · unranked

39 citations

Macarena Cabrera‐Serrano, Katherine Johnson, Ashutosh Pandey, Atsuko Ito, Eloy Rivas +22 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

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.52127

Top 60%

0.252DataRank

Top 60%4 citations

Shannon McNulty, Courtney L Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers +25 more

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features

medRxiv(2024)10.1101/2024.09.23.24313872

N/A

0DataRank · unranked

3 citations

Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Enzo Cohen +33 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

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.05.03.592369

N/A

0DataRank · unranked

0 citations

Shannon McNulty, Courtney L Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers +25 more

Dominant stop‐loss HNRNPA1 variants in juvenile‐onset myopathy

Muscle & Nerve(2024)10.1002/mus.28214

N/A

0DataRank · unranked

0 citations

Christine C. Bruels, Audrey L. Daugherty, Elicia Estrella, Seth A. Stafki, Safoora B. Syeda +15 more

Circulating protein biomarkers identified in two independent clinical trial cohorts of glucocorticoid-naive Duchenne muscular dystrophy patients.

Scientific Reports(2025)10.1038/s41598-025-23758-6

N/A

0DataRank · unranked

3 citations

Rebecca Tobin, C. Degan, Ahmed Naveed, Michela Guglieri, Albert Jiménez-Requena +88 more

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy

Genetics in Medicine(2025)10.1016/j.gim.2025.101399

N/A

0DataRank · unranked

5 citations

Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Enzo Cohen +32 more

Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants

Annals of Clinical and Translational Neurology(2025)10.1002/acn3.52225

N/A

0DataRank · unranked

3 citations

Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou +24 more

High prevalence of plasma lipid abnormalities in human and canine Duchenne and Becker muscular dystrophies depicts a new type of primary genetic dyslipidemia

Journal of clinical lipidology(2020)10.1016/j.jacl.2020.05.098

N/A

0DataRank · unranked

47 citations

Chady H. Hakim, Marine Théret, N. Nora Yang, Fabio Rossi, Dan Cox +7 more

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

Genetics in Medicine(2025)10.1016/j.gim.2025.101513

N/A

0DataRank · unranked

1 citations

Ingrid M. Jazet, Suzanne Yzer, Jeroen Pas, Serwet Demirdas, Elisabeth F. C. van Rossum +39 more

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Nature Medicine(2021)10.1038/s41591-021-01346-1

N/A

0DataRank · unranked

153 citations

Sandra Donkervoort, Museer A. Lone, Matthew Nalls, Kenneth Gable, Sita D. Gupta +41 more

A form of muscular dystrophy associated with pathogenic variants in JAG2

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.03.020

N/A

0DataRank · unranked

41 citations

Alison M. Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, Dorianmarie Vargas‐Franco +53 more

Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy

Neuromuscular Disorders(2021)10.1016/j.nmd.2021.06.001

N/A

0DataRank · unranked

8 citations

Elaine McColl, Michael McDermott, William B. Martens, Michela Guglieri, Robert C. Griggs +42 more

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

medRxiv(2021)10.1101/2021.04.08.21254942

N/A

0DataRank · unranked

2 citations

Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin J. O’Donovan, Maura Coughlin +53 more

Digenic Inheritance Involving a Muscle Specific Protein Kinase and the Giant Titin Protein Causes a Skeletal Muscle Myopathy

SSRN Electronic Journal(2021)10.2139/ssrn.3801723

N/A

0DataRank · unranked

2 citations

Irina Zaharieva, Valeria Di Leo, Anna Vihola, Neha Wali, Marco Savarese +60 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

DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy

Neurology(2023)10.1212/wnl.0000000000201626

N/A

0DataRank · unranked

38 citations

James Signorovitch, Gautam Sajeev, H. Clifford Lane, Madeline Jenkins, Ibrahima Dieye +15 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

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

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Nature Genetics(2024)10.1038/s41588-023-01651-0

N/A

0DataRank · unranked

33 citations

Dan Cox, Irina Zaharieva, Valeria Di Leo, J. Sarparanta, Per Harald Jonson +80 more

CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes

Journal of Clinical Investigation(2024)10.1172/jci179559

N/A

0DataRank · unranked

19 citations

Rotem Orbach, Irina Zaharieva, Ana Töpf, Sandra Donkervoort, Pinki Munot +20 more

Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): A multi-center study

PLoS ONE(2024)10.1371/journal.pone.0304984

N/A

0DataRank · unranked

12 citations

James Signorovitch, Gautam Sajeev, Nicolae Done, Zhiwen Yao, Nathalie Goemans +17 more

Volker Straub

Indexed papers

Top data-sharing exemplar

Papers