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NPJ Genomic Medicine|December 22, 2017
De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patientsChristopher C Y Mak, Pak Cheong Chow, Anthony P Y Liu, et al.
Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research|November 29, 2020
Access and Unmet Needs of Orphan Drugs in 194 Countries and 6 Areas: A Global Policy Review With Content AnalysisAdrienne Y L Chan, Vivien K Y Chan, Sten Olsson, et al.
Molecular Genetics & Genomic Medicine|March 11, 2020
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patientsMandy H Y Tsang, Annie T G Chiu, Bernard M H Kwong, et al.
Cancers|October 14, 2023
Genome-Wide DNA Methylation Profiling as Frontline Diagnostics for Central Nervous System Embryonal Tumors in Hong KongOtto C H Tam, Ronnie S L Ho, Shing Chan, et al.
Scientific Reports|February 7, 2018
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathiesGordon K C Leung, H M Luk, Vincent H M Tang, et al.
Molecular Genetics & Genomic Medicine|May 1, 2020
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypesKit San Yeung, Florrie N Y Yu, Cheuk Wing Fung, et al.
BMC Medical Genomics|October 26, 2018
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, et al.
Molecular Genetics & Genomic Medicine|January 25, 2017
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosisGordon K C Leung, Dingge Ying, Christopher C Y Mak, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 19, 2019
Rare SUZ12 variants commonly cause an overgrowth phenotypeSharri S Cyrus, Ana S A Cohen, Ruky Agbahovbe, et al.
Human Genomics|September 10, 2020
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese populationMandy H Y Tsang, Anna K Y Kwong, Kate L S Chan, et al.
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