Payam Mohassel

Also affiliated with Johns Hopkins Medicine

Biochemistry, Genetics and Molecular BiologyMedicine

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 20 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

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Brain(2023)10.1093/brain/awac460

N/A

0.992DataRank · unranked

35 citations

Hagar Mor Shaked, Kenneth Gable, Sita D. Gupta, Xueyang Pan, Niranjanakumari Somashekarappa +93 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

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

Collagen VIα2 chain deficiency causes trabecular bone loss by potentially promoting osteoclast differentiation through enhanced TNFα signaling

Scientific Reports(2020)10.1038/s41598-020-70730-7

N/A

0.464DataRank · unranked

21 citations

Vardit Kram, Qurratul-Ain Dar, Taishi Komori, YOUNGMI JI, Payam Mohassel +7 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

NAD+ dyshomeostasis in RYR1-related myopathies

Skeletal Muscle(2025)10.1186/s13395-025-00390-6

N/A

0.165DataRank · unranked

2 citations

Willa Riekhof, Linda Groom, Pooja Varma, Irene C. Chrismer, Angela Kokkinis +12 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

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

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 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

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

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

Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders

Journal of Neuromuscular Diseases(2024)10.3233/jnd-240014

N/A

0DataRank · unranked

9 citations

Meher Abdullah, Florian Eichler, Teresa Dunn, Payam Mohassel

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

Collagen type VI regulates TGF-β bioavailability in skeletal muscle in mice

Journal of Clinical Investigation(2025)10.1172/jci173354

N/A

0DataRank · unranked

14 citations

Hailey Hearn, Jachinta E. Rooney, Yaqun Zou, Kory R. Johnson, Gina Norato +9 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

Payam Mohassel

Indexed papers

Top data-sharing exemplar

Papers