Gordon C. Leung
Hong Kong, China
Last Updated: 09/26/2026
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Found 8 publications
DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified.
Journal: International journal of neonatal screening
Published: September 12, 2024
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Journal: The Lancet regional health. Western Pacific
Published: April 30, 2020
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Journal: Brain : a journal of neurology
Published: July 05, 2019
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).
Journal: BMC medical genomics
Published: August 24, 2018
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.
Journal: Scientific reports
Published: October 04, 2017
Noonan syndrome in diverse populations.
Journal: American journal of medical genetics. Part A
Published: May 05, 2017
De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients.
Journal: NPJ genomic medicine
Published: April 14, 2016
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.
Journal: Human mutation
Published: July 29, 2015
Showing 1-8 of 8
Last Updated: 09/26/2026