Canterbury Health Laboratories has long been at the forefront of biomedical research, both nationally and internationally.
Our dedicated scientists and clinicians have published extensively, examples of which can be found below.
10 resources by "Cheng Yee Chan".
- A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes
Published April 2022, by Cheng Yee Chan & Richard King
- Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency
Published July 2021, by Cheng Yee Chan
- The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy
Published August 2020, by Cheng Yee Chan
- Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
Published June 2020, by Cheng Yee Chan
- CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer
Published April 2020, by Cheng Yee Chan
- Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing
Published July 2019, by Cheng Yee Chan
- Undiagnosed Diseases Network, Campeau PM. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
Published December 2018, by Cheng Yee Chan
- Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome
Published March 2018, by Cheng Yee Chan
- Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies
Published November 2017, by Cheng Yee Chan
- Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Published August 2014, by Cheng Yee Chan
