
Seth Perlman
Medical Director, Neuromuscular Program · University of Washington School of Medicine
Credentials: · · · · · ·
History
PresentNeuromuscular Program · University of Washington School of Medicine


- 2014–2015
Neuromuscular Medicine


- 2002–2006
Research
Targeted long-read sequencing identifies missing disease-causing variation
The American Journal of Human Genetics · 2021 · 181 citations
JAMA Neurology · 2022 · 114 citations
The Lancet Neurology · 2013 · 106 citations

3 papers

3 papers · 2 as a resident
- ES
3 papers

3 papers

3 papers

3 papers
- AH
2 papers

2 papers
Clinical trials
- 2018–2038
Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
Site PI · Recruiting
Novartis Pharmaceuticals
- 2010–2026
Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
Site PI · Recruiting
University of Iowa
- 2010–2026
Site PI · Recruiting
Michael Shy
Expanded Access Protocol for Boys With Duchenne Muscular Dystrophy
Site PI · Available
Santhera Pharmaceuticals


