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Hui Bein Chew

Observed names: Chew Hui Bein, Chew, Hui Bein, H B Chew, H.B. Chew, Hui B. Chew, Hui-Bein Chew
ORCID: 0000-0002-8223-5852
Observed ORCID: 0000-0002-8223-5852
OpenAlex ID: A5008603231
Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes
2021 · Carolina Courage, Karen L. Oliver, et al. · The American Journal of Human Genetics · 88
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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
2021 · J. den Hoed, E. de Boer, et al. · The American Journal of Human Genetics · 52
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Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): a case with additional features and review of the literature
2011 · H B Chew, L H Ngu, et al. · BMJ Case Reports · 50
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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
Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients
2010 · Hui Bein Chew, Lock Hock Ngu, et al. · Journal of Inherited Metabolic Disease · 25
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey
2021 · Annemiek M.J. van Wegberg, Friedrich Trefz, et al. · The Journal of Pediatrics · 23
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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
2019 · Huey Yin Leong, Nor Azimah Abdul Azize, et al. · Orphanet Journal of Rare Diseases · 22
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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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RANBP2 susceptibility to infection-induced encephalopathy: Clinicoradiologic and molecular description in a Malaysian family
2020 · H.B. Chew, L.H. Ngu · Molecular Genetics and Metabolism Reports · 12
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Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants
2023 · Mei-Yan Chan, Julaina Abdul Jalil, et al. · Orphanet Journal of Rare Diseases · 6
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NOVEL MUTATIONS OF THE G6PC GENE IN MALAYSIANS WITH GLYCOGEN STORAGE DISEASE 1a (GSD1a)
2021 · Amirah Assyiqqin Abd Rahman, Ili Syazwana Abdullah, et al. · Malaysian Journal of Science · 3
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Partial deletion 9p syndrome in Malaysian children.
2010 · H B Chew, M K Thong · PubMed · 2
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
CACNA1A channelopathy with reversible cerebral ischaemia and vasospasm
2026 · HANAA ZAINUDDIN, Limin Li, et al. · Neurology Asia
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Annual report 2025
2026 · Lock-Hock Ngu, Chew, Hui Bein
Diagnostic Odyssey of Two Patients with Charge Syndrome
2025 · Haranoop Singh Rajinder Singh Gill, Jing-Fei Teen, et al. · Malaysian Journal of Paediatrics and Child Health
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A Common CHAT Gene Mutation of Congenital Myasthenic Syndrome Found in Kadazandusun Children
2022 · Khian Aun Tan, Hui Bein Chew, et al. · Journal of Pediatric Genetics
Foetal 2:1 atrioventricular block in a patient with Timothy syndrome (LQT8) (RCDD code: VI-1B-1.2)
2019 · Putri Yubbu, Hui Bein Chew, et al. · Journal of Rare Cardiovascular Diseases
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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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Analysis of the tissue-nonspecific alkaline phosphatase mutations in Malaysian patients with hypophosphatasia
2017 · Hideo Orimo, Atsushi Watanabe, et al. · The Japanese Biochemical Society/The Molecular Biology Society of Japan
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: 333
H-index: 9
I10-index: 9
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