Bo Hoon Lee

Treatment Responsiveness in KCNT1-Related Epilepsy

Mark P. Fitzgerald, Martina Fiannacca, Douglas M. Smith et al. · Neurotherapeutics · 2019 · 103 citations · Full text

Medicine, Neuroscience, Pharmacotherapy +10

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

Denise M. Kay, Colleen F. Stevens, April Parker et al. · Genetics in Medicine · 2020 · 78 citations

Medicine, Pediatrics, Preventive Medicine +10

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

Sarah E. Sheppard, Ian M. Campbell, Margaret Harr et al. · American Journal of Medical Genetics Part A · 2021 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Newborn Screening for Spinal Muscular Atrophy in New York State

Bo Hoon Lee, Stella Deng, Claudia A. Chiriboga et al. · Neurology · 2022 · 51 citations · Full text

Medicine, Preventive Medicine, Medical Genetics +13

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

Bo Hoon Lee, Érin Collins, Leann Lewis et al. · Neurology · 2019 · 47 citations

Medicine, Genetics, Neurology +17