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.

Faculty Appointments

Assistant Professor - Department of Neurology, Child Neurology (SMD)

Assistant Professor - Department of Pediatrics (SMD) - Joint

Credentials

Residency & Fellowship

Fellowship, Pediatric Neurology, University of Rochester Medical Center. 2018 - 2020

Fellowship, Pediatric Neurology, University of Rochester Medical Center. 2015 - 2018

Residency, Pediatrics, University of Rochester Medical Center. 2014 - 2015

Internship, Pediatrics, University of Rochester Medical Center. 2013 - 2014

Education

MD | University of Rochester. 2013

Publications

Journal Articles

Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years.

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

Neurology.. 2022 July 14 Epub 07/14/2022.

The 4-copy conundrum in the treatment of infants with spinal muscular atrophy.

Deng S, Lee BH, Ciafaloni E, Mackenzie SJ

Annals of neurology.. 2022 March 25 Epub 03/25/2022.

Parent Perceptions in Choosing Treatment for Infants With Spinal Muscular Atrophy Diagnosed Through Newborn Screening.

Deng S, Lee BH, Ciafaloni E

Journal of child neurology.. 2021 November 9 :8830738211040292. Epub 11/09/2021.

Time is muscle: A recommendation for early treatment for preterm infants with spinal muscular atrophy.

Lee BH, Waldrop MA, Connolly AM, Ciafaloni E

Muscle & nerve.. 2021 May 7 Epub 05/07/2021.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

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

American journal of medical genetics. Part A.. 2021 March 30 Epub 03/30/2021.

Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.

Lee BH, Mongiovi P, Levade T, Marston B, Mountain J, Ciafaloni E

American journal of medical genetics. Part A.. 2020 July 5 Epub 07/05/2020.

Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy.

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

Genetics in medicine : official journal of the American College of Medical Genetics.. 2020 May 18 Epub 05/18/2020.

Combination therapy with nusinersen and AVXS-101 in SMA type 1.

Lee BH, Collins E, Lewis L, Guntrum D, Eichinger K, Voter K, Abdel-Hamid HZ, Ciafaloni E

Neurology.. 2019 October 193 (14):640-641. Epub 09/05/2019.

Comment: Accuracy and importance of copy number.

Lee BH

Neurology.. 2019 August 693 (6):270. Epub 06/24/2019.

Treatment Responsiveness in KCNT1-Related Epilepsy.

Fitzgerald MP, Fiannacca M, Smith DM, Gertler TS, Gunning B, Syrbe S, Verbeek N, Stamberger H, Weckhuysen S, Ceulemans B, Schoonjans AS, Rossi M, Demarquay G, Lesca G, Olofsson K, Koolen DA, Hornemann F, Baulac S, Rubboli G, Minks KQ, Lee B, Helbig I, Dlugos D, Møller RS, Bearden D

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics.. 2019 May 3 Epub 05/03/2019.

Expanding the neurodevelopmental phenotype of PURA syndrome.

Lee BH, Reijnders MRF, Abubakare O, Tuttle E, Lape B, Minks KQ, Stodgell C, Bennetto L, Kwon J, Fong CT, Gripp KW, Marsh ED, Smith WE, Huq AM, Coury SA, Tan WH, Solis O, Mehta RI, Leventer RJ, Baralle D, Hunt D, Paciorkowski AR

American journal of medical genetics. Part A.. 2018 January 176 (1):56-67. Epub 11/17/2017.

Autism spectrum disorder and epilepsy: Disorders with a shared biology.

Lee BH, Smith T, Paciorkowski AR

Epilepsy & behavior : E&B.. 2015 June 47 :191-201. Epub 04/19/2015.

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