Sign inJoin waitlistJoin the waitlist

Karthik Muthusamy

Assistant Professor of Medical Genetics · Mayo Clinic College of Medicine and Science

Credentials: · · · ·

History

Mayo Clinic College of Medicine and Science
Present

Medical Genetics and Genomics
2008–2010
Bachelor of Medicine, Bachelor of Surgery
2004–2008

Research

Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications
Annals of Neurology · 2021 · 54 citations
CSF1R-related disorder: State of the art, challenges, and proposition of a new terminology
Review · Parkinsonism & Related Disorders · 2024 · 30 citations
Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1
Case report · JIMD Reports · 2020 · 28 citations

Radhika Dhamija
5 papers
RB
Rohit Benjamin
5 papers
Brendan Lanpher
3 papers
Klaas Weirenga
3 papers
Lisa Schimmenti
3 papers
MP
Marc Patterson
3 papers
Ralitza Gavrilova
3 papers
Andrew Edmondson
2 papers
Austin Larson
2 papers
Christina Lam
2 papers
Peter Tebben
2 papers
ST
Sarah Thurman
2 papers · 1 as a fellow

Clinical trials

Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
Site PI · Recruiting
Icahn School of Medicine at Mount Sinai
2019–2030