A. Reghan Foley

National Institute of Neurological Disorders and Stroke

MedicineBiochemistry, Genetics and Molecular Biology

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

0.367Author 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.

A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy

Annals of Clinical and Translational Neurology(2023)10.1002/acn3.51834

Top 49%

0.367DataRank

Top 49%6 citations

Pomi Yun, Safoora Syeda, Abhinandan Batra, Andrew J. Bradley, Sandra Donkervoort +17 more

Papers

Driven by 33 papers — median percentile 51. Top paper: “Intrathecal Gene Therapy for Giant Axonal Neuropathy”.

Intrathecal Gene Therapy for Giant Axonal Neuropathy

New England Journal of Medicine(2024)10.1056/nejmoa2307952

N/A

1.4DataRank · unranked

59 citations

Joshua J. Todd, Dimah Saade, Gina Norato, Minal Jain, Tanya Lehky +24 more

Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial

EClinicalMedicine(2024)10.1016/j.eclinm.2024.102433

N/A

0.718DataRank · unranked

23 citations

Tokunbor A. Lawal, Irene C. Chrismer, Angela Kokkinis, Christopher Grunseich, Minal Jain +19 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

International retrospective natural history study of LMNA-related congenital muscular dystrophy

Brain Communications(2021)10.1093/braincomms/fcab075

N/A

0.538DataRank · unranked

35 citations

Pomi Yun, Ivana Dabaj, Gina Norato, Sandra Donkervoort, Hui Xiong +39 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

0.449DataRank · unranked

19 citations

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

A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy

Annals of Clinical and Translational Neurology(2023)10.1002/acn3.51834

Top 49%

0.367DataRank

Top 49%6 citations

Pomi Yun, Safoora Syeda, Abhinandan Batra, Andrew J. Bradley, Sandra Donkervoort +17 more

Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants

Neurology(2022)10.1212/wnl.0000000000200032

N/A

0.360DataRank · unranked

10 citations

Ning Chang, Kaoru Inoue, Angela Delaney, Ying Hu, Sandra Donkervoort +17 more

Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy

Neurology Genetics(2024)10.1212/nxg.0000000000200148

N/A

0.280DataRank · unranked

4 citations

Pomi Yun, M. Leach, Sarah Neuhaus, G. Averion, Ying Hu +17 more

Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium

Journal of Clinical Investigation(2021)10.1172/jci145700

N/A

0DataRank · unranked

24 citations

Sandra Donkervoort, Josine M. de Winter, Stefan Conijn, Leon P. L. Begthel, Benno Küsters +20 more

A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

BMC Neurology(2021)10.1186/s12883-021-02134-7

N/A

0DataRank · unranked

3 citations

U. M. J. E. Samaranayake, Osório Lopes Abath Neto, A. Reghan Foley, B. A. P. S. Pathirana, Nilaksha Neththikumara +6 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

Recurrentde-novo gain-of-functionmutation inSPTLC2confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

Journal of Neurology Neurosurgery & Psychiatry(2023)10.1136/jnnp-2023-332130

N/A

0DataRank · unranked

14 citations

Danique Beijer, Museer A. Lone, Elif Bayraktar, Piraye Oflazer, Rotem Orbach +15 more

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

Acta Neuropathologica(2023)10.1007/s00401-023-02551-7

N/A

0DataRank · unranked

12 citations

Christine C. Bruels, Sandra Donkervoort, A. Reghan Foley, Anna Codina, José C. Milisenda +29 more

Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial

EBioMedicine(2023)10.1016/j.ebiom.2023.104894

N/A

0DataRank · unranked

10 citations

Benedikt Schoser, Marta Margeta, Caroline A. Sewry, Karra A. Jones, Perry B. Shieh +34 more

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.51983

N/A

0DataRank · unranked

3 citations

Payam Mohassel, Melanie O’Leary, Devon Bonner, Taila Hartley, Nicole Acquaye +19 more

Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100274

N/A

0DataRank · unranked

2 citations

Chamindra G. Laverty, Sandra Donkervoort, Ying Hu, Sarah Silverstein, Sarah Neuhaus +12 more

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

medRxiv(2024)10.1101/2024.03.29.24304673

N/A

0DataRank · unranked

2 citations

Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach +64 more

Differential inclusion of NEB exons 143 and 144 provides insight into NEB -related myopathy variant interpretation and disease manifestation

medRxiv(2024)10.1101/2024.03.25.24304535

N/A

0DataRank · unranked

0 citations

Rotem Orbach, Safoora Syeda, A. Reghan Foley, Svetlana Gorokhova, Katherine G. Meilleur +6 more

Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100354

N/A

0DataRank · unranked

0 citations

Rotem Orbach, Safoora Syeda, A. Reghan Foley, Svetlana Gorokhova, Katherine G. Meilleur +6 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

LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness

Frontiers in Molecular Neuroscience(2020)10.3389/fnmol.2020.00123

N/A

0DataRank · unranked

112 citations

A. Reghan Foley, Alberto A. Zambon, Carsten G. Bönnemann, Francesco Muntoni, Anna Sárközy

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology(2025)10.1002/acn3.70108

N/A

0DataRank · unranked

0 citations

Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li +7 more

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Brain(2020)10.1093/brain/awaa420

N/A

0DataRank · unranked

56 citations

Rauan Kaiyrzhanov, Yaqun Zou, Sahar Da’as, Reza Maroofian, Sandra Donkervoort +91 more

Hypoglycemia in patients with congenital muscle disease

BMC Pediatrics(2020)10.1186/s12887-020-1909-5

N/A

0DataRank · unranked

16 citations

Pomi Yun, Payam Mohassel, Gina Norato, Sandra Donkervoort, M. Leach +6 more

Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study

Journal of Neuromuscular Diseases(2020)10.3233/jnd-190457

N/A

0DataRank · unranked

16 citations

Donovan J. Lott, Rebecca J. Willcocks, Sean C. Forbes, William Triplett, Jahannaz Dastgir +6 more

Responsiveness and Minimal Clinically Important Difference of the Motor Function Measure in Collagen VI-Related Dystrophies and Laminin Alpha2-Related Muscular Dystrophy

Archives of Physical Medicine and Rehabilitation(2020)10.1016/j.apmr.2020.10.116

N/A

0DataRank · unranked

16 citations

Katherine G. Meilleur, Gina Norato, Pascal Rippert, Minal Jain, Margaret Fink +6 more

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61765

N/A

0DataRank · unranked

29 citations

Payam Mohassel, Lucia Laugwitz, Maha S. Zaki, Erik‐Jan Kamsteeg, Reza Maroofian +24 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

Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort

Brain(2021)10.1093/brain/awab179

N/A

0DataRank · unranked

38 citations

Gina Norato, Dimah Saade, Eduardo Paredes, Victoria Biancavilla, Sandra Donkervoort +14 more

Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans

Nature Communications(2021)10.1038/s41467-021-20939-5

N/A

0DataRank · unranked

36 citations

Jaquette Liljencrantz, Nicholas Madian, Aaron Necaise, Justin D. Tubbs, Micaela V. McCall +16 more

Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies

Annals of Clinical and Translational Neurology(2021)10.1002/acn3.51450

N/A

0DataRank · unranked

25 citations

Payam Mohassel, Kory R. Johnson, Lin Yang, Mariarita Santi, Prech Uapinyoying +7 more

A. Reghan Foley

Indexed papers

Top data-sharing exemplar

Papers