🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Jordi Díaz‐Manera

Newcastle upon Tyne Hospitals NHS Foundation Trust

ORCID: 0000-0003-2941-7988

Also affiliated with Hospital de Sant Pau, Centre for Life, Centro de Investigación Biomédica en Red, Muscular Dystrophy UK, NIHR Newcastle Biomedical Research Centre, University of Newcastle Australia, 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 100%percentile

0Author 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 →

Papers

Driven by 14 papers. 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

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

Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy

Orphanet Journal of Rare Diseases(2022)10.1186/s13023-022-02172-5

N/A

0.542DataRank · unranked

36 citations

Allison Peck, Lindsay N. Alfano, Kenneth I. Berger, M. James, Nupur Ghoshal +50 more

Isolation of human fibroadipogenic progenitors and satellite cells from frozen muscle biopsies

The FASEB Journal(2021)10.1096/fj.202100588r

N/A

0.531DataRank · unranked

13 citations

Esther Fernández‐Simón, Patricia Piñol‐Jurado, Jorge Alonso‐Pérez, Ana Carrasco‐Rozas, Cinta Lleixà +10 more

Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E

Journal of Clinical Investigation(2023)10.1172/jci168156

N/A

0.449DataRank · unranked

19 citations

Jackson Wilborn, Sara K. Pittman, Jil Daw, Jorge Alonso‐Pérez, Jordi Díaz‐Manera +3 more

2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy

Neurobiology of Disease(2025)10.1016/j.nbd.2025.106861

N/A

0.292DataRank · unranked

6 citations

Amal Dadi, Zollie Yavarow, Lindsay N. Alfano, Daniel J. Anderson, Michelle R. Arkin +36 more

Diagnosis, management and monitoring of patients with Pompe disease in the UK

BMJ Neurology Open(2025)10.1136/bmjno-2025-001274

N/A

0.104DataRank · unranked

1 citations

Alexander Broomfield, James Davison, Patrick Deegan, Rachel Gould, Tarekegn Geberhiwot +4 more

Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1

Neurology Genetics(2024)10.1212/nxg.0000000000200191

N/A

0DataRank · unranked

7 citations

Andrew R. Findlay, Shan Li, Feng Wang, Marianela Schiava, Jil Daw +4 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

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

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

Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy

Annals of Clinical and Translational Neurology(2023)10.1002/acn3.51760

N/A

0DataRank · unranked

9 citations

Allison Peck, Teresinha Evangelista, Gerald Pfeffer, Leo Wang, Jordi Díaz‐Manera +15 more

Post-hoc Nonparametric Analysis of Forced Vital Capacity in the COMET Trial Demonstrates Superiority of Avalglucosidase Alfa vs Alglucosidase Alfa

Journal of Neuromuscular Diseases(2023)10.3233/jnd-230175

N/A

0DataRank · unranked

3 citations

Emmanuelle Salort Campana, Shahram Attarian, Jordi Díaz‐Manera, Mazen M. Dimachkie, Magali Periquet +5 more