Lee, Hane

Top Publications

Top Publications Authored or Co-Authored by "Lee, Hane"

• Mutations in PYCR1 cause cutis laxa with progeroid features

  Nature Genetics, Volume 41, No. 9, Year 2009, Citations 230
• KMT2B-related disorders: Expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

  Brain, Volume 143, No. 11, Year 2020, Citations 100
• Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1

  Nature Genetics, Volume 44, No. 6, Year 2012, Citations 66
• Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

  American Journal of Human Genetics, Volume 109, No. 10, Year 2022, Citations 63
• The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling

  Science Translational Medicine, Volume 10, No. 459, Article eaat9356, Year 2018, Citations 33