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Title	Author(s)	Issue Date
Allan-Herndon-Dudley syndrome in Hong Kong: Implication for newborn screening Journal:Clinica Chimica Acta	Yiu, Rachel Sze-wan Ling, Tsz-ki Ko, Chun-hung Poon, Sarah Wing-yiu Poon, Grace Wing-kit Wong, Felix Chi-kin Law, Chun-yiu Iwayama, Hideyuki Lam, Ching-wan	3-Nov-2023
Allele dropout caused by a non-primer-site SNV affecting PCR amplification--a call for next-generation primer design algorithm Journal:Clinica Chimica Acta	Lam, CW Mak, CM	2013
C-terminal truncated SPOP, a Janus-faced variant, causing a mixed type 1 and type 2 Nabais Sa-de Vries syndrome Journal:Clinica Chimica Acta	Law, CW Lam, CW	2022
Centrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies Journal:Clinica Chimica Acta	Lam, CW Fong, NC Chan, TYC Lau, KC Ling, TK Mak, DWY Cheng, X Law, CY	2020
Circular RNA circ_ABCB10 in cancer Journal:Clinica Chimica Acta	Liu, B Zhao, N Zhou, Y Lu, Y Chen, W Huang, Z Wang, D Xu, Y Yam, JWP Cui, Y	2021
Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy Journal:Clinica Chimica Acta	Ling, TK LAW, CY YAN, KW FONG, NC Wong, KC LEE, KL CHU, WCW Brea-Calvo, G Lam, CW	2019
Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy Journal:Clinica Chimica Acta	Law, CY Chang, T Cho, SY Yau, EK Ng, GS Fong, NC Lam, CW	2015
Comparison of miR-124-3p and miR-16 for early diagnosis of hemorrhagic and ischemic stroke Journal:Clinica Chimica Acta	Leung, Ling Yan Chan, Cangel Pui Yee Leung, Yuk Ki Jiang, Hui Lin Abrigo, Jill Morales Wang, De Feng Chung, Joseph Shun Hang Rainer, Timothy Hudson Graham, Colin Alexander	2014
Comparison of plasma β-globin DNA and S-100 protein concentrations in acute stroke Journal:Clinica Chimica Acta	Rainer, Timothy H.Wong, Ka Sing Lam, Wynnie Lam, Nicole Y.L.Graham, Colin A.Lo, Y. M.Dennis	2007
Comparison of Single Nucleotide Polymorphism genotyping of CYP2C19 by Loop-mediated isothermal amplification and real-time PCR melting curve analysis Journal:Clinica Chimica Acta	Kwong, KM Tam, CC Chan, R Lee, SWL Ip, P Kwok, JSY	2018
Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome Journal:Clinica Chimica Acta	Lam, CW YEUNG, WL Ling, TK Wong, KC LAW, CY	2019
Global developmental delay and intellectual disability associated with a de novo TOP2B mutation Journal:Clinica Chimica Acta	Lam, CW Yeung, WL Law, CY	2017
Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency Journal:Clinica Chimica Acta	Cho, SY Goh, DL Lau, KC Ong, HT Lam, CW	2013
Molecular diagnosis for growth hormone deficiency in Chinese children and adolescents and evaluation of impact of rare genetic variants on treatment efficacy of growth hormone Journal:Clinica Chimica Acta	He, D Li, Y Yang, W Chen, S Sun, H Li, P Zhang, M Ban, B	2022
Molecular diagnosis is an important indicator for response to growth hormone therapy in children with short stature Journal:Clinica Chimica Acta	Zhao, Qianqian Zhang, Mei Li, Yanying Zhang, Chuanpeng Zhang, Yanhong Shao, Qian Wei, Wei Yang, Wanling Ban, Bo	1-Feb-2024
NMR-based metabolomic urinalysis: A rapid screening test for urinary tract infection Journal:Clinica Chimica Acta	Lam, CW Law, CY To, KKW Cheung, SKK Lee, KC Sze, KH Leung, KF Yuen, KY	2014
NMR-based urinalysis for beta-ketothiolase deficiency Journal:Clinica Chimica Acta	Law, CY Lam, CW Ching, DCK Yau, KC Ho, TW Lai, CK Mak, CM	2015
NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome Journal:Clinica Chimica Acta	Lam, CW Law, CY Leung, KF Lai, CK Chen, SPL Chan, B Chan, KY Yuen, LYP Mak, CM Chan, AYW	2015
Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidus Journal:Clinica Chimica Acta	Cho, SY Law, CY Ng, KL Lam, CW	2016
Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient Journal:Clinica Chimica Acta	Cho, SY Siu, TS Ma, O Tam, S Lam, CW	2013

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