Showing results 1 to 6 of 6
Title | Author(s) | Issue Date | |
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A random forest-based framework for genotyping and accuracy assessment of copy number variations Journal:NAR Genomics and Bioinformatics | 2020 | ||
ATP-binding cassette (ABC) transporter recessive mutations in biliary atresia cases Proceeding/Conference:American Society of Human Genetics (ASHG) 2019 Annual Meeting | 2019 | ||
2021 | |||
Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing Journal:European Journal of Human Genetics | 2018 | ||
Whole exome sequencing analysis in biliary atresia: a follow-up study Proceeding/Conference:68th Annual Meeting of the American Society of Human Genetics, 2018 | 2018 | ||
Whole exome sequencing reveals a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia Proceeding/Conference:The 67th Annual Congress of the British Association of Paediatric Surgeons (Virtual), U.K. 7-9 July 2022 | 2021 |