James J. Dowling

Also affiliated with University of Toronto, Hospital for Sick Children, Canada Research Chairs, Children's of Alabama, University of Alabama at Birmingham, Maine Farmland Trust, SickKids Foundation, University of Pennsylvania

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 29 papers. Top paper: “Randomized controlled trial of N -acetylcysteine therapy for RYR1 -related myopathies”.

Randomized controlled trial of N -acetylcysteine therapy for RYR1 -related myopathies

Neurology(2020)10.1212/wnl.0000000000008872

N/A

1.3DataRank · unranked

43 citations

Tokunbor A. Lawal, Jessica W. Witherspoon, Irene C. Chrismer, Muslima S. Razaqyar, Monal Punjabi +17 more

Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A)

Frontiers in Molecular Neuroscience(2020)10.3389/fnmol.2020.00122

N/A

0DataRank · unranked

7 citations

James J. Dowling, Lacramioara Fabian

Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy

UNC Libraries(2020)10.17615/a9yp-1v09

N/A

0DataRank · unranked

0 citations

Akhila Satish, Wilson W. Cui, John Y. Kuwada, Weibin Zhou, Louis Saint‐Amant +12 more

X-linked myotubular myopathy

Neuromuscular Disorders(2021)10.1016/j.nmd.2021.08.003

N/A

0DataRank · unranked

85 citations

James J. Dowling, Michael W. Lawlor

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

European Journal of Human Genetics(2021)10.1038/s41431-021-00821-0

N/A

0DataRank · unranked

15 citations

Marie Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot‐Bastaraud, Cecile Cieuta Walti +51 more

Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy

Human Molecular Genetics(2021)10.1093/hmg/ddab278

N/A

0DataRank · unranked

5 citations

Lacramioara Fabian, Adeel Sheikh, Ramil R. Noche, Xiucheng Cui, Steven A. Moore +2 more

A novel zebrafish model of SPEG -related centronuclear myopathy (CNM): characterization and comparison with other CNM model zebrafish

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.12.22.473918

N/A

0DataRank · unranked

0 citations

Salma Geissah, Linda Groom, Jonathan Volaptti, Ian C. Scott, Robert T. Dirksen +3 more

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.03.002

N/A

0DataRank · unranked

42 citations

Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong +95 more

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

JAMA Neurology(2022)10.1001/jamaneurol.2022.0067

N/A

0DataRank · unranked

39 citations

John Christodoulou, Gregory Costain, Francesco Muntoni, Emma Wakeling, Monica H. Wojcik +12 more

First-line options for systemic juvenile idiopathic arthritis treatment: an observational study of Childhood Arthritis and Rheumatology Research Alliance Consensus Treatment Plans

Pediatric Rheumatology(2022)10.1186/s12969-022-00768-6

N/A

0DataRank · unranked

22 citations

George Tomlinson, Peter A. Nigrović, Anne Dennos, Vincent Del Gaizo, Marian Jelinek +95 more

Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility

Nature Communications(2022)10.1038/s41467-022-31088-8

N/A

0DataRank · unranked

17 citations

Linda Groom, Alper Celik, Natalia Kraeva, Chang Seok Lee, Sung Yun Jung +8 more

Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy

Disease Models & Mechanisms(2022)10.1242/dmm.049437

N/A

0DataRank · unranked

9 citations

Salma Geissah, Linda Groom, Jonathan Volpatti, Ian C. Scott, Robert T. Dirksen +3 more

Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy

Journal of Clinical Investigation(2023)10.1172/jci166275

N/A

0DataRank · unranked

20 citations

Ashish R. Deshwar, Evangelina Aristegui, Binita M. Kamath, Michael W. Lawlor, Gaia Andreoletti +5 more

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

Human Genetics and Genomics Advances(2023)10.1016/j.xhgg.2023.100213

N/A

0DataRank · unranked

18 citations

Matthew C. Childers, Colby T. Marvin, Anthony J. Marcello, Hernán Gonorazky, Lili‐Naz Hazrati +13 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

Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum

Genetics in Medicine(2023)10.1016/j.gim.2023.100863

N/A

0DataRank · unranked

6 citations

Ashish R. Deshwar, Harsha Murthy, Daniela D’Agostino, Lucie Dupuis, Balram Gangaram +19 more

Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy

Human Molecular Genetics(2023)10.1093/hmg/ddad178

N/A

0DataRank · unranked

3 citations

Linda Groom, Sabrina M. Wang, Emanuela Pannia, Nigel Griffiths, Jenica L.M. Van Gennip +5 more

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

medRxiv(2023)10.1101/2023.03.07.23286862

N/A

0DataRank · unranked

0 citations

Matthew C. Childers, Colby T. Marvin, Anthony J. Marcello, Hernán Gonorazky, Lili‐Naz Hazrati +13 more

Standardization of zebrafish drug testing parameters for muscle diseases

Disease Models & Mechanisms(2024)10.1242/dmm.050339

N/A

0DataRank · unranked

23 citations

Katherine G. English, Clarissa A. Henry, M. Chiara Manzini, John M. Parant, Melissa A. Wright +7 more

Cyprocide selectively kills nematodes via cytochrome P450 bioactivation

Nature Communications(2024)10.1038/s41467-024-49738-4

N/A

0DataRank · unranked

9 citations

Andrew R. Burns, Brittany Cooke, Savina R. Cammalleri, Megan Kitner, Justin Ching +14 more

Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis

The Journal of Experimental Medicine(2024)10.1084/jem.20240546

N/A

0DataRank · unranked

8 citations

Neil Warner, Rui Guan, Marco M. Rodari, Danton Ivanochko, Ryder Whittaker Hawkins +36 more

Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy

Human Molecular Genetics(2024)10.1093/hmg/ddae033

N/A

0DataRank · unranked

5 citations

Esmat Karimi, Gerrie P. Farman, Jochen Gohlke, Coen A. C. Ottenheijm, Hendrikus L Granzier +2 more

Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion

Research Square(2024)10.21203/rs.3.rs-5456324/v1

N/A

0DataRank · unranked

0 citations

Justin Kolb, Nesrin Sabha, Esmat Karimi, Zaynab Hourani, Coen A. C. Ottenheijm +3 more

X-linked myopathy with excessive autophagy: characterization and therapy testing in a zebrafish model

EMBO Molecular Medicine(2025)10.1038/s44321-025-00204-8

N/A

0DataRank · unranked

2 citations

Rebecca Simonian, Michael A. Lopez, Muthukumar Karuppasamy, V M Sanders, Katherine G. English +4 more

microRNA-133a as an indicator of disease progression and treatment response in X-linked myotubular myopathy

Molecular Therapy — Nucleic Acids(2025)10.1016/j.omtn.2025.102507

N/A

0DataRank · unranked

1 citations

Dakota Gustafson, Peter B. MacDonald, Emanuela Pannia, Crizza Ching, Nesrin Sabha +4 more

Evaluation of dynamin 2 knockdown as a therapeutic strategy for RYR1 related myopathy

Neuromuscular Disorders(2025)10.1016/j.nmd.2025.105339

N/A

0DataRank · unranked

1 citations

Linda Groom, Liang Chen, Belinda S. Cowling, Mohammad M Ghahramani-Seno, Robert T. Dirksen +2 more

Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia

Brain(2025)10.1093/brain/awaf273

N/A

0DataRank · unranked

1 citations

Ny Hoang, Jamie C Stark, Sunny Cui, Emanuela Pannia, Chung Ting Tsoi +36 more

Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature

Skeletal Muscle(2020)10.1186/s13395-020-00243-4

N/A

0DataRank · unranked

93 citations

Joshua J. Todd, Jessica W. Witherspoon, Carsten G. Bönnemann, James J. Dowling, Susan L. Hamilton +3 more

Missense ABI2 variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities

medRxiv(2025)10.1101/2025.05.19.25327541

N/A

0DataRank · unranked

1 citations

Caleb Yang, Carolyn Le, Amanda M. Elashoff, Kendall C. Parks, Clare Bakker +18 more