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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

    VIEW ALL expand_more


    Journal Articles

    Lee BH, Deng S, Chiriboga CA, Kay DM, Irumudomon O, Laureta E, Delfiner L, Treidler SO, Anziska Y, Sakonju A, Kois C, Farooq O, Engelstad K, Laurenzano A, Hogan K, Caggana M, Saavedra-Matiz CA, Stevens CF, Ciafaloni E. "Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years." Neurology.. 2022 Jul 14; Epub 2022 Jul 14.

    Deng S, Lee BH, Ciafaloni E, Mackenzie SJ. "The 4-copy conundrum in the treatment of infants with spinal muscular atrophy." Annals of neurology.. 2022 Mar 25; Epub 2022 Mar 25.

    Deng S, Lee BH, Ciafaloni E. "Parent Perceptions in Choosing Treatment for Infants With Spinal Muscular Atrophy Diagnosed Through Newborn Screening." Journal of child neurology.. 2021 Nov 9; :8830738211040292. Epub 2021 Nov 09.