Wee T. Keng
Kuala Lumpur, Malaysia
Last Updated: 09/26/2026
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Found 20 publications
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.
Journal: Journal of human genetics
Published: October 27, 2025
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics.
Journal: Epilepsy & behavior : E&B
Published: December 19, 2022
Molecular diagnosis of 405 individuals with autism spectrum disorder.
Journal: European journal of human genetics : EJHG
Published: December 11, 2022
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
Journal: PloS one
Published: April 21, 2022
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Journal: Journal of inherited metabolic disease
Published: August 22, 2021
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features.
Journal: Journal of human genetics
Published: July 20, 2021
Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes.
Journal: Journal of medical genetics
Published: September 08, 2020
Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.
Journal: Orphanet journal of rare diseases
Published: March 16, 2019
Expanding the phenome and variome of skeletal dysplasia.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 19, 2017
Molecular analysis of fragile X syndrome (FXS) among Malaysian patients with developmental disability.
Journal: The Malaysian journal of pathology
Published: September 04, 2017
Last Updated: 09/26/2026