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Bo Hoon Lee, M.D.

Contact Information

Phone Numbers

Appointment: (585) 275-2808

Appointment: (585) 275-2559

Fax: (585) 275-3683

URMFGA member of the University of Rochester Medical Faculty Group

groupAn Accountable Health Partner

assignmentAccepting New Patients

Faculty Appointments

Patient Care Settings

Neurology, Pediatrics


Dr. Lee completed her undergraduate degree at Washington University in St. Louis. She then came to Rochester to complete medical school at the University of Rochester School of Medicine and Dentistry, where she also completed her pediatric and child neurology residency training. She then completed a fellowship in Neurogenetics.

She is part of the Neurogenetics Consultation Team and Pediatric Neuromuscular Clinic.

In her clinical practice, she sees children with a wide range of neurologic conditions and is particularly interested in disorders with a genetic basis. She also sees children with neuromuscular disorders like spinal muscular atrophy (SMA), Duchenne and Becker Muscular Dystophy (DMD / BMD) and works in the neuromuscular division to provide treatment and care for these children. She directs the follow-up clinic for infants diagnosed with Pompe disease via newborn screening.

Her clinical research interests are in genetic therapies for genetic neurologic disorders. She is lead investigator for several rare disease registries (Pompe, Fabry, SMA) and currently involved in therapeutic clinical trials for DMD and congenital myotonic dystrophy.



MD | University of Rochester

Post-doctoral Training & Residency

07/01/2018 - 06/30/2020
Fellowship in Pediatric Neurology at University of Rochester Medical Center

06/29/2015 - 06/30/2018
Fellowship in Pediatric Neurology at University of Rochester Medical Center

07/01/2014 - 06/28/2015
Residency in Pediatrics at University of Rochester Medical Center

06/12/2013 - 06/30/2014
Internship in Pediatrics at University of Rochester Medical Center

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Journal Articles

Lee BH, Waldrop MA, Connolly AM, Ciafaloni E. "Time is muscle: A recommendation for early treatment for preterm infants with spinal muscular atrophy." Muscle & nerve.. 2021 May 7; Epub 2021 May 07.

Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. "Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome." American journal of medical genetics. Part A.. 2021 Mar 30; Epub 2021 Mar 30.

Lee BH, Mongiovi P, Levade T, Marston B, Mountain J, Ciafaloni E. "Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report." American journal of medical genetics. Part A.. 2020 Jul 5; Epub 2020 Jul 05.