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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. Her clinic also includes a follow-up clinic for infants diagnosed with Pompe disease via newborn screening.

Her clinical research interests are in genetic therapies for genetic neurologic disorders.



  • Neurology with Special Qualifications in Child Neurology - American Board of Psychiatry and Neurology


MD | University of Rochester Medical Center

Post-doctoral Training & Residency

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

7/1/2018 - 6/30/2020
Fellowship in Pediatric Neurology at University of Rochester Medical Center

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Journal Articles

Kay DM, Stevens CF, Parker A, Saavedra-Matiz CA, Sack V, Chung WK, Chiriboga CA, Engelstad K, Laureta E, Farooq O, Ciafaloni E, Lee BH, Malek S, Treidler S, Anziska Y, Delfiner L, Sakonju A, Caggana M. "Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy." Genetics in medicine : official journal of the American College of Medical Genetics.. 2020 May 18; Epub 2020 May 18.

Lee BH, Collins E, Lewis L, Guntrum D, Eichinger K, Voter K, Abdel-Hamid HZ, Ciafaloni E. "Combination therapy with nusinersen and AVXS-101 in SMA type 1." Neurology.. 2019 Oct 1; 93(14):640-641. Epub 2019 Sep 05.

Lee BH. "Comment: Accuracy and importance of copy number." Neurology.. 2019 Aug 6; 93(6):270. Epub 2019 Jun 24.