MR
Maura Ruzhnikov
Medical Genetics / Clinical Genetics (M.D.)
Credentials: · ·
History
Research
De novo mutations in epileptic encephalopathies
Nature · 2013 · 1,242 citations
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy
Annals of Clinical and Translational Neurology · 2015 · 100 citations
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing
Nature Biotechnology · 2022 · 81 citations
7 papers
4 papers
4 papers
4 papers
4 papers · 2 as a resident
3 papers
3 papers
- ES
3 papers
Clinical trials
- 2019–2021
NGLY1 Deficiency: A Prospective Natural History Study
Principal investigator · Terminated
Stanford University
- 2018–2021
A Study to Prospectively Assess Disease Progression in Male Children With X-ALD
Site PI · Unknown
NeuroVia, Inc.