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601 Elmwood AveRochester, NY 14642
Phone+1 585-275-4600
Fax+1 585-461-1231
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Summary
- Dr. Bo Hoon Lee is a Child Neurology specialist based in Rochester, NY. She completed her medical education at the University of Rochester School of Medicine and Dentistry in 2013, alongside residencies in Child Neurology and Pediatrics at the same university. She is knowledgeable in pediatric neuromuscular disorders and neurogenetics. She has numerous publications in reputable medical journals, mainly focusing on spinal muscular atrophy and neurodevelopmental issues. Her work in clinical trials includes serving as a Principal Investigator for multiples therapeutic and natural history studies for disorders like Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, LAMA2 muscular dystrophy, Spinal muscular atrophy and congenital myotonic dystrophy.
Education & Training
University of Rochester Medical CenterResidency, Child Neurology, 2013 - 2018- University of Rochester Medical CenterResidency, Pediatrics, 2012 - 2015
University of Rochester School of Medicine and DentistryClass of 2013
Washington University in St. LouisBA, Biology, Psychology, 2005 - 2009
Certifications & Licensure
NY State Medical License 2017 - 2025
American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
Clinical Trials
- Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA) Start of enrollment: 2018 Sep 25
Roles: Contact, Principal Investigator
Publications & Presentations
PubMed
- 1 citationsOutcomes of early-treated infants with spinal muscular atrophy: A multicenter, retrospective cohort study.Natalie L Goedeker, Amanda Rogers, Mark Fisher, Kapil Arya, John F Brandsema
Muscle & Nerve. 2024-12-01 - Pearls & Oy-sters: Use of Muscle Ultrasound as a Clinical Tool in INPP5K-Related Muscular Dystrophy: A Case Report.Stella Deng, Bo Hoon Lee
Neurology. 2024-09-10 - 1 citationsLong-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.Mei Lietsch, Kee Chan, Jennifer Taylor, Bo Hoon Lee, Emma Ciafaloni
International Journal of Neonatal Screening. 2024-04-18
Journal Articles
- Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy.Kay D, Stevens C, Parker A, Saavedra-Matiz, Sack V, Chung W, Chiriboga C, Engelstad K, Laureta E, Farooq O, Ciafaloni E, Lee B, Malek S, Treidler S, Anziska Y, Delfine..., Genetics in Medicine, 5/18/2020
Press Mentions
Newborn Screening Expansion Sparks Research on Early Duchenne InterventionApril 21st, 2025
Professional Memberships
- Member
- Child Neurology SocietyMember
- American College of Medical GeneticsMember
- International Child Neurology AssociationMember
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