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Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant

The Journal of clinical investigation, 2022-12, Vol.132 (23), p.1-6

2022

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Attitudes and training needs of oncologists and surgeons in mainstreaming breast cancer genetic counseling in a low‐to‐middle income Asian country

Journal of genetic counseling, 2022-10, Vol.31 (5), p.1080-1089

2022

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

Journal of human genetics, 2022-03, Vol.67 (3), p.169-173

2022

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Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

Human molecular genetics, 2006-05, Vol.15 (9), p.1413-1422

2006

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Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients

Genes & Genomics, 2019, 41(8), , pp.885-893

2019

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Novel Heterozygous Mutations in TALDO1 Gene Causing Transaldolase Deficiency and Early Infantile Liver Failure

Journal of pediatric gastroenterology and nutrition, 2011-01, Vol.52 (1), p.113-116

2011

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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

PloS one, 2022-11, Vol.17 (11), p.e0268149-e0268149

2022

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Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges

Journal of pediatric endocrinology & metabolism : JPEM, 2016-09, Vol.29 (9), p.1031

2016

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Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1

Journal of inherited metabolic disease, 2022-07, Vol.45 (4), p.769-781

2022

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Genetic Testing for Cancer Risk: Is the Community Willing to Pay for It?

International journal of environmental research and public health, 2021-08, Vol.18 (16), p.8752

2021

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Cost-Effectiveness of Colorectal Cancer Genetic Testing

International journal of environmental research and public health, 2021-08, Vol.18 (16), p.8330

2021

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Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma

Molecular vision, 2015-10, Vol.21, p.1185-1190

2015

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Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.143-143, Article 143

2019

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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

Pediatrics and neonatology, 2018-08, Vol.59 (4), p.397-403

2018

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Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype

Human mutation, 2010-09, Vol.31 (9), p.1059-1068

2010

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Molecular analysis of fragile X syndrome (FXS) among Malaysian patients with developmental disability

Malaysian journal of pathology, 2017-08, Vol.39 (2), p.99-106

2017

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Two Novel Gross Deletions of TSC2 in Malaysian Patients with Tuberous Sclerosis Complex and TSC2/PKD1 Contiguous Deletion Syndrome

Japanese journal of clinical oncology, 2014-05, Vol.44 (5), p.506-511

2014

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Mutational Analyses on X-Linked Adrenoleukodystrophy Reveal a Novel Cryptic Splicing and Three Missense Mutations in the ABCD1 Gene

Pediatric neurology, 2013-09, Vol.49 (3), p.185-190

2013

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The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

Genetics in medicine, 2016-05, Vol.18 (5), p.483-493

2016

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Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics

Epilepsy & behavior, 2023-08, Vol.145, p.109266-109266, Article 109266

2023

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Molecular diagnosis of 405 individuals with autism spectrum disorder

European journal of human genetics : EJHG, 2023-03

2023

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Mutations in SOX2 cause anophthalmia–esophageal–genital (AEG) syndrome

Human molecular genetics, 2006-06, Vol.15 (12), p.2030-2030

2006

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Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy

Genetics in medicine, 2022-12, Vol.24 (12), p.2453-2463

2022

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Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients

Genes & genomics, 2019-08, p.885-893

2019

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NOVEL MUTATIONS OF THE G6PC GENE IN MALAYSIANS WITH GLYCOGEN STORAGE DISEASE 1a (GSD1a)

Malaysian Journal of Science, 2021-02, Vol.40 (1), p.34-45

2021

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Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant

Attitudes and training needs of oncologists and surgeons in mainstreaming breast cancer genetic counseling in a low‐to‐middle income Asian country

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

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients

Novel Heterozygous Mutations in TALDO1 Gene Causing Transaldolase Deficiency and Early Infantile Liver Failure

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges

Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1

Genetic Testing for Cancer Risk: Is the Community Willing to Pay for It?

Cost-Effectiveness of Colorectal Cancer Genetic Testing

Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

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

Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype

Molecular analysis of fragile X syndrome (FXS) among Malaysian patients with developmental disability

Two Novel Gross Deletions of TSC2 in Malaysian Patients with Tuberous Sclerosis Complex and TSC2/PKD1 Contiguous Deletion Syndrome

Mutational Analyses on X-Linked Adrenoleukodystrophy Reveal a Novel Cryptic Splicing and Three Missense Mutations in the ABCD1 Gene

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics

Molecular diagnosis of 405 individuals with autism spectrum disorder

Mutations in SOX2 cause anophthalmia–esophageal–genital (AEG) syndrome

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy

Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients

NOVEL MUTATIONS OF THE G6PC GENE IN MALAYSIANS WITH GLYCOGEN STORAGE DISEASE 1a (GSD1a)

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