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Nucleic Acids Research|December 21, 2021
Deviation from baseline mutation burden provides powerful and robust rare-variants association test for complex diseasesLin Jiang, Hui Jiang, Sheng Dai, et al.Annals of Human Genetics|June 21, 2014
Targeted next-generation sequencing on Hirschsprung disease: a pilot study exploits DNA poolingHongsheng Gui, Jessie Yunjuan Bao, Clara Sze-Man Tang, et al.Scientific Reports|November 13, 2015
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung diseaseBerta Luzón-Toro, Hongsheng Gui, Macarena Ruiz-Ferrer, et al.The Journal of Molecular Diagnostics : JMD|July 22, 2022
NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation SequencingYujie Cao, Shau-Yin Ha, Chi-Chiu So, et al.Journal of Human Genetics|November 23, 2020
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing dataMullin Ho Chung Yu, Christopher Chun Yu Mak, Jasmine Lee Fong Fung, et al.Ebiomedicine|April 4, 2025
Multi-ancestry genome-wide association meta-analysis identifies novel associations and informs genetic risk prediction for Hirschsprung diseaseYuanxin Zhong, Man-Ting So, Zuyi Ma, et al.Ebiomedicine|August 29, 2021
Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanismWai-Yee Lam, Clara Sze-Man Tang, Man-Ting So, et al.Human Genetics|June 28, 2011
Mutations in the NRG1 gene are associated with Hirschsprung diseaseClara Sze-Man Tang, Elly Sau-Wai Ngan, Wai-Kiu Tang, et al.Plos One|February 2, 2011
Fine mapping of the NRG1 Hirschsprung's disease locusClara Sze-Man Tang, Wai-Kiu Tang, Man-Ting So, et al.Plos Genetics|May 17, 2012
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3Clara Sze-Man Tang, Guo Cheng, Man-Ting So, et al.Pageof 5