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Wee Teik Keng

Hospital Kuala Lumpur

14

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200

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Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features.

2021 Journal of Human Genetics
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Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes

2021 Journal of Medical Genetics
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Author response for "A homozygous missense variant in CHRM3 associated with familial urinary bladder disease"

2019
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Analysis of the tissue-nonspecific alkaline phosphatase mutations in Malaysian patients with hypophosphatasia

2017
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Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients

2017 Pediatrics and Neonatology
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Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex

2017 The Journal of Molecular Diagnostics
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Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges

2016 Journal of Pediatric Endocrinology and Metabolism
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The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

2016 Genetics in Medicine
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AB168. Novel DYM compound heterozygous mutations in a Malaysian boy with Dyggve-Melchior-Clausen syndrome

2015 Annals of Translational Medicine
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AB085. Imprinting mutation of CDKN1C in Beckwith-Wiedemann Syndrome: inheritance, genetic counselling and surveillance

2015 Annals of Translational Medicine
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