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Steven Lim Cho Pei

Observed names: Pei, Steven, S.L.C. Pei, Steven L C Pei, Steven L. C. Pei, Steven L.C. Pei, Steven LC Pei, Steven Lim‐Cho Pei, Steven Pei
ORCID: 0000-0003-1335-5380
Observed ORCID: 0000-0003-1335-5380
OpenAlex ID: A5014395574
Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism
2017 · Kit San Yeung, Winnie Wan Yee Tso, et al. · Molecular Autism · 114
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Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs
2020 · Claudia C.Y. Chung, Gordon K.C. Leung, et al. · The Lancet Regional Health - Western Pacific · 74
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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
2019 · Christopher C Y Mak, Dan Doherty, et al. · Brain · 51
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Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)
2018 · Gordon K C Leung, Christopher C Y Mak, et al. · BMC Medical Genomics · 48
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Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion
2017 · A.T.G. Chiu, S.L.C. Pei, et al. · Clinical Genetics · 44
Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy
2018 · Mandy Ho‐Yin Tsang, Gordon Ka‐Chun Leung, et al. · Epilepsia Open · 34
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Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease
2024 · Chao Zhang, Michael Rehman, et al. · Nature Communications · 32
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Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients
2020 · Mandy H. Y. Tsang, Annie T. G. Chiu, et al. · Molecular Genetics & Genomic Medicine · 28
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NLRP3 Inflammasome Contributes to Host Defense Against Talaromyces marneffei Infection
2021 · Haiyan Ma, Jasper FW Chan, et al. · Frontiers in Immunology · 14
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Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome
2019 · Kavitha Rethanavelu, Jasmine L. F. Fung, et al. · American Journal of Medical Genetics Part A · 14
Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction
2020 · Alvin Chun Hang Ma, Christopher Chun Yu Mak, et al. · Circulation Genomic and Precision Medicine · 13
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Integrated stress signaling pathways promote adaptive reprogramming for chondrocyte survival in Metaphyseal Chondrodysplasia Type Schmid
2026 · Qing Yao, Wilson Cheuk Wing Chan, et al. · Bone Research
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Dephosphorylation Facilitates Trafficking of Mutant Polycystin-2 to Cilia
2023 · Yiqiang Cai, Ke Dong, et al. · Journal of the American Society of Nephrology
Pkd2 Re-Expression Can Reverse Liver Cysts and Improve GFR in Mouse Models of Autosomal Dominant Polycystic Kidney Disease
2022 · Ke Dong, Mingshen Tham, et al. · Journal of the American Society of Nephrology
Editorial: Genetics and mechanism of ciliopathies
2022 · Steven Lim Cho Pei, Brian Hon Yin Chung · Frontiers in Genetics
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Genetics and Mechanism of Ciliopathies
2022 · Steven L. C. Pei, Brian Hon-Yin Chung · Frontiers research topics
Additional file 1: of Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism
2017 · Yeung, Kit, Tso, Winnie, et al. · Figshare
Works count: 17
Citation count: 466
H-index: 11
I10-index: 11
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