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Winnie Peitee Ong

Observed names: Ong Peitee Winnie, Peitee, Winnie, W.P. Ong, Winnie Ong PeiTee, Winnie Ong Peitee, Winnie P Ong, Winnie P. Ong, Winnie P. T. Ong, Winnie PeiTee Ong
ORCID: 0000-0002-7448-4090
Observed ORCID: 0000-0002-7448-4090
OpenAlex ID: A5032508452
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay
2016 · Hirotomo Saitsu, Miho Watanabe, et al. · Scientific Reports · 109
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Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
2019 · Futoshi Sekiguchi, Yoshinori Tsurusaki, et al. · Journal of Human Genetics · 75
Expanding the phenome and variome of skeletal dysplasia
2018 · Sateesh Maddirevula, Saud Alsahli, et al. · Genetics in Medicine · 75
Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short‐rib thoracic dystrophies
2014 · A.M. McInerney‐Leo, J.E. Harris, et al. · Clinical Genetics · 56
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy
2020 · Toshiyuki Itai, Kohei Hamanaka, et al. · Human Mutation · 34
Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes
2021 · Sook-Yee Yoon, Siu Wan Wong, et al. · Journal of Medical Genetics · 24
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
2023 · Nastassja Himmelreich, Mariarita Bertoldi, et al. · Molecular Genetics and Metabolism · 23
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis
2016 · Gordon K. C. Leung, Dingge Ying, et al. · Molecular Genetics & Genomic Medicine · 20
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Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II
2017 · Lock-Hock Ngu, Winnie Ong Peitee, et al. · Molecular Genetics and Metabolism Reports · 15
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Novel complex Re-Arrangement of ARG1 commonly shared by unrelated patients with Hyperargininemia
2013 · Jafar Mohseni, Chia Boon Hock, et al. · Gene · 12
Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance
2013 · Anasufiza Habib, Zabedah Md Yunus, et al. · European Journal of Pediatrics · 7
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‘Knowing and Treating Kosaki/Penttinen syndrome’ international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors
2025 · Yordi-Michaël Bouhatous, Cecilie Bredrup, et al. · Journal of Medical Genetics · 3
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Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
2023 · Nastassja Himmelreich, Mariarita Bertoldi, et al. · Molecular Genetics and Metabolism · 2
Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics
2023 · Jao-Shwann Liang, Kun-Long Hung, et al. · Epilepsy & Behavior · 1
AB168. Novel DYM compound heterozygous mutations in a Malaysian boy with Dyggve-Melchior-Clausen syndrome
2015 · Winnie Peitee Ong, Muzhirah Haniffa, et al. · PubMed Central · 1
SHORT Syndrome : An End to the Diagnostic Odyssey
2021 · Siti Aishah Abdul Wahab, Muzhirah Aisha Md Haniffa, et al. · Malaysian Journal of Paediatrics and Child Health
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Novel mutations in SLC16A2 gene in four unrelated Malaysian boys with MCT8 deficiency
2018 · Nur Jannah Arifin, Ngu Lock Hock, et al. · Asian Journal of Medicine and Biomedicine
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Estimating growth in the demand for genetic testing as an indicator for the demand of genetic counselling in Malaysia
2018 · Tiong, Shing Yiing, Peitee, Winnie, et al. · Asian Journal of Medicine and Biomedicine
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Psychosocial aspects of mainstreaming genetic counselling for genetic testing of BRCA1 and BRCA2 in ovarian cancer patients in Malaysia (MaGiC)
2017 · Siu Wan Wong, N.S. Ahmad Bashah, et al. · DOAJ (DOAJ: Directory of Open Access Journals)
Mucolipidosis II/III in Malaysia
2016 · Ngu Lock Hock, Winnie Ong PeiTee · Journal of mucopolysaccharidosis and rare disease
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AB085. Imprinting mutation of CDKN1C in Beckwith-Wiedemann Syndrome: inheritance, genetic counselling and surveillance
2015 · Hui Bein Chew, Winnie Peitee Ong, et al. · PubMed Central
Works count: 21
Citation count: 457
H-index: 10
I10-index: 10
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