Man‐Ting So

机构：Chinese University of Hong Kong, University of Hong Kong

发表论文 59 篇 · 总被引 1525 次 · h-index 22

代表论文

• Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism (2021 · EBioMedicine · 被引 61)
• Actionable secondary findings from whole-genome sequencing of 954 East Asians (2017 · Human Genetics · 被引 55)
• Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes (2016 · BMC Medical Genomics · 被引 27)
• Cancer gene mutations in congenital pulmonary airway malformation patients (2019 · ERJ Open Research · 被引 25)
• Sacral agenesis: a pilot whole exome sequencing and copy number study (2016 · BMC Medical Genetics · 被引 18)
• A random forest-based framework for genotyping and accuracy assessment of copy number variations (2020 · NAR Genomics and Bioinformatics · 被引 14)