Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
2020 · Cell · 2,318 citations
https://doi.org/10.1016/j.cell.2019.12.036
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So Lun Lee
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So Lun Lee is an academic researcher from Queen Mary Hospital. The author has contributed to research in topics: Genomics and Rare Diseases & Tracheal and airway disorders & Asthma and respiratory diseases. The author has an h-index of 32, co-authored 102 publications.
ORCID: 0000-0003-3056-9778Papers by this author
worksIdentification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism
2017 · Molecular Autism · 114 citations
https://doi.org/10.1186/s13229-017-0182-4
Healthcare burden of rare diseases in Hong Kong – adopting ORPHAcodes in ICD-10 based healthcare administrative datasets
2018 · Orphanet Journal of Rare Diseases · 75 citations
https://doi.org/10.1186/s13023-018-0892-5
Long-Term Management for Ventilator-Assisted Children in Hong Kong: 2 Decades' Experience
2016 · Respiratory Care · 53 citations
https://doi.org/10.4187/respcare.04989
Socio-economic costs of rare diseases and the risk of financial hardship: a cross-sectional study
2023 · The Lancet Regional Health - Western Pacific · 38 citations
https://doi.org/10.1016/j.lanwpc.2023.100711
Functional analysis and evaluation of respiratory cilia in healthy Chinese children
2020 · Respiratory Research · 21 citations
https://doi.org/10.1186/s12931-020-01506-w
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