W. Keng

发表

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

Y. S. Choy, L. Ngu, Z. M. Yunus, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

Treatment of Lesch–Nyhan disease with S-adenosylmethionine: Experience with five young Malaysians, including a girl

J. O’Neill, S. Balasubramaniam, J. Duley, 2014, Brain and Development.

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

S. Balasubramaniam, C. Jakobs, G. Salomons, 2011, Journal of pediatric gastroenterology and nutrition.

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

M. Thong, L. Ngu, Y. Yakob, 2019, Orphanet Journal of Rare Diseases.

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

J. K. Joseph, S. Teo, E. Bleiker, 2021, Journal of Medical Genetics.

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

L. P. Van den Heuvel, M. Heiner-Fokkema, C. Thiel, 2022, Journal of inherited metabolic disease.

Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.

J. Wang, Jyh-Feng Lu, L. Ngu, 2013, Pediatric neurology.

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

J. Goodship, I. Wilson, D. Pilz, 2015, Genetics in Medicine.

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

S. Teo, C. Yip, T. Hassan, 2022, Journal of genetic counseling.

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

E. Ali, Y. Yakob, Z. Zakaria, 2017, The Malaysian journal of pathology.

Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant

Prashant Mishra, A. Garg, C. Xing, 2022, The Journal of clinical investigation.

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

J. Marsh, G. Damante, A. Kriegsheim, 2022, PloS one.

SHORT Syndrome : An End to the Diagnostic Odyssey

Y. Yakob, W. Keng, G. Ch'ng, 2021, Malaysian Journal of Paediatrics and Child Health.

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

L. Ngu, Y. Yakob, W. Keng, 2017, Pediatrics and neonatology.

A mother with variant Turner syndrome and two daughters with trisomy X: a case report

S. Ramachandram, W. Keng, V. Ganesan, 2013, Journal of Genetics.

Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients

Keiko Kobayashi, S. Balasubramaniam, L. Ngu, 2010, Journal of Inherited Metabolic Disease.

Familial complex chromosomal rearrangement in a dysmorphic child with global developmental delay.

C. Ngim, W. Keng, R. Ariffin, 2011, Singapore medical journal.

FAT1 mutations cause a glomerulotubular nephropathy

T. Chan, R. Lifton, D. Milford, 2016, Nature Communications.

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

D. Fitzpatrick, R. C. Rogers, P. Turnpenny, 2006, Human molecular genetics.

Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome.

T. H. Sasongko, F. Hayati, L. Ngu, 2014, Japanese journal of clinical oncology.

A balanced reciprocal translocation in a case of hypomelanosis of Ito with confirmation of mosaicism using buccal cell interphase FISH

D. Fitzpatrick, L. Harewood, W. Lam, 2006, American journal of medical genetics. Part A.

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

L. Ngu, F. D. Khaidizar, W. Keng, 2019, Genes & Genomics.

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease

W. Newman, S. Bhaskar, A. Woolf, 2019, Clinical genetics.

Mowat-Wilson syndrome: the first two Malaysian cases.

S. Balasubramaniam, L. Ngu, W. Keng, 2010, Singapore medical journal.

Clinical features and respiratory complications in Myhre syndrome.

J. Tolmie, R. McGowan, M. Whiteford, 2011, European journal of medical genetics.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): a case with additional features and review of the literature

L. Ngu, W. Keng, H. B. Chew, 2011, BMJ Case Reports.

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

T. H. Sasongko, A. Rani, L. Ngu, 2017, The Journal of molecular diagnostics : JMD.

Molecular diagnosis of 405 individuals with autism spectrum disorder

T. Hara, T. Matsuishi, A. Fattal-Valevski, 2023, European journal of human genetics : EJHG.

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

N. Matsumoto, S. Miyatake, E. Koshimizu, 2021, Journal of Human Genetics.

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

N. Matsumoto, S. Miyatake, E. Koshimizu, 2021, Journal of Human Genetics.

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

C. Manegold, W. Hwu, M. Verbeek, 2010, Neurology.

Expanding the phenome and variome of skeletal dysplasia

S. Kapoor, F. Alkuraya, E. Faqeih, 2018, Genetics in Medicine.

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

Jyh-Feng Lu, K. Hung, Jao-Shwann Liang, 2023, Epilepsy & Behavior.