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James Dowling

Director, Penn Neurogenetics Therapy Center · Perelman School of Medicine at the University of Pennsylvania

Credentials: · · · · ·

History

Penn Neurogenetics Therapy Center · Perelman School of Medicine at the University of Pennsylvania
Present
University of Pennsylvania Health System
Present
Perelman School of Medicine at the University of Pennsylvania
Present

University of Michigan
2006–2009
Fellow, Neurogenetics and Neuromuscular Diseases, Department of Neurology
University of Michigan
2005–2006
Child Neurology
Children's Hospital of Philadelphia
2002–2005
Pediatrics
University of Chicago Comer Children's Hospital
2001–2002
University of Chicago Division of the Biological Sciences, The Pritzker School of Medicine
1997–2001

Research

Guidelines for the use and interpretation of assays for monitoring autophagy
Autophagy · 2012 · 2,918 citations
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Science Translational Medicine · 2017 · 602 citations
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Genetics in Medicine · 2018 · 453 citations

Carsten Bonnemann
23 papers
EF
Eva Feldman
13 papers
Michael Lawlor
12 papers
Steven Moore
7 papers
HM
Hugh Mcmillan
6 papers
Katherine Mathews
5 papers
Perry Shieh
5 papers
BD
Basil Darras
4 papers
Nancy Kuntz
4 papers
NS
Neal Sondheimer
4 papers
Berge Minassian
3 papers
CW
Ching Wang
3 papers

Grants

Pathophysiology and Treatment of Recessive RYR1 Related Myopathy
National Institute of Arthritis and Musculoskeletal and Skin Diseases · R01
PI · $2.7M · University of Rochester
2020–2031
Nuclear Myotubularin and Its Role in Muscle Development and the Pathogenesis of X-Linked Myotubular Myopathy
National Institute of Arthritis and Musculoskeletal and Skin Diseases · R01
Contact PI · $1.4M · University of Pennsylvania
2025–2030
Environmental and Epigenetic Modifiers of Susceptibility to Malignant Hyperthermia and Environmental Heat Stroke
National Institute of Arthritis and Musculoskeletal and Skin Diseases · R01
PI · $2.9M · Baylor College of Medicine
2022–2027
AAV Mediated Gene Knockdown of PIK3C2B as a Therapeutic Strategy for X-Linked Myotubular Myopathy and Fatty Liver Disease
National Institute of Arthritis and Musculoskeletal and Skin Diseases · R21
PI · $322.1K · Research Inst Nationwide Children's Hosp
2023–2025