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Title	Author(s)	Issue Date
A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome Journal:American Journal of Medical Genetics Part A	Willis, BR Lee, M Rethanavelu, K Fung, JLF Wong, RMS Hui, P Yeung, KS Lo, IFM Chung, BHY	2020
A report of three families with FBN1- related acromelic dysplasias and review of literature for genotype-phenotype correlation in gelophysic dysplasia Journal:European Journal of Medical Genetics	Cheng, SW Luk, HM Chu, WY Tung, YL Kwan, EYW Lo, IFM Chung, BHY	2018
Coffin–Lowry syndrome in Chinese Journal:American Journal of Medical Genetics Part A	Fung, JLF Rethanavelu, K Luk, HM Ho, MSP Lo, IFM Chung, BHY	2019
Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations Proceeding/Conference:International Child Neurology Congress. Mumbai, India. 2018	Chan, HSS Kwong, KY Luk, HM Lo, IFM Fung, STH Tsang, HYM Chung, BHY Chan, AOK	2019
Contribution of gain-of-function mutations in R1T1 to the pathogenesis of Noonan syndrome: a report of 3 new Chinese patients in Hong Kong Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting	Leung, KC Ma, CH Gao, W Chu, WY Wong, WL Jin, D Lo, IFM Luk, HM Chung, BHY	2014
Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA) Journal:Clinical Biochemistry	Lai, KKS Lo, IFM Tong, TMF Cheng, LYL Lam, STS	2006
Detecting structural variations with precise breakpoints using low-depth WGS data from a single oxford nanopore MinION flowcell Journal:Sci Rep	Leung, HCM Yu, H Zhang, Y Leung, WS Lo, IFM Luk, HM Law, WC Ma, KK Wong, CL Wong, YS Luo, R Lam, TW	2022
Evaluation of the 18-month 'Pilot Study of Newborn Screening for Inborn Errors of Metabolism' in Hong Kong Journal:Hong Kong Journal of Paediatrics (New series)	Lam, RKY Lo, IFM Leung, CM Tong, AYH Yeung, SWC Leung, KY Hui, PW Tsang, SL Ma, GGY But, BWM Hui, JCN Poon, GWK Yau, EKC Wong, KF Mak, CM Tso, KKP Hau, EWL Au, AWM	2020
Evidence of spread of X Chromosome inactivation on Chromosome 15 in a girl with an Unbalanced t(X;15) Translocation Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Yeung, KS Chee, WYY Luk, HM Tang, MHY Lau, ETK Shuen, YA Lo, IFM Chan, YK Chung, BHY	2013
Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions Journal:European Journal of Medical Genetics	Yu, KPT Luk, HM Fung, JLF Chung, BHY Lo, IFM	2021
Identifying genetic mutations in patients with Rasopathies using a Next Generation Sequencing Diagnostic Pipeline in Hong Kong Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Lo, IFM Leung, KC Luk, HM Tang, VHM Gao, W Wong, WL Tang, LYF Chu, WY Kan, SYA Tang, MHY Lam, STS Yang, W Ma, CH Jin, D Chan, YK Chung, BHY	2014
Massive parallel sequencing for the genetic diagnosis of rasopathies: a study of 58 Chinese patients in Hong Kong Proceeding/Conference:Annual Scientific Meeting of the Canadian College of Medical Geneticists, CCMG 2013	Lo, IFM Leung, KC Luk, MHM Wong, WL Tang, LYF Chu, YWY Kan, ASY Tang, MHY Lam, STS Yang, W Chan, YK Chung, BHY	2013
Mechanisms for the generation of two quadruplications associated with split-hand malformation Journal:Human Mutation	Gu, S Posey, JE Yuan, B Carvalho, CMB Luk, HM Erikson, K Lo, IFM Leung, GKC Pickering, CR Chung, BHY Lupski, JR	2016
Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T>A and 79G>T in RMRP gene Journal:Prenatal Diagnosis	Lam, ACF Chan, DHC Tong, TMF Tang, MHY Lo, SYF Lo, IFM Lam, STS	2006
Mowat-Wilson syndrome in a Chinese population: A case series Journal:American Journal of Medical Genetics Part A	Ho, S Luk, H-M Chung, BH-Y Fung, JL-F Mak, HH-Y Lo, IFM	2020
Normal cord blood thyroid-stimulating hormone in a child with resistance to thyroid hormone Journal:Neuroembryology and Aging	Chan, AOK Lam, CW Lo, IFM Lam, STS Shek, CC Tiu, SC Tong, SF	2005
NSD1 mutations generate a genome-wide DNA methylation signature Journal:Nature Communications	Choufani, S Cytrynbaum, C Chung, BHY Turinsky, AL Grafodatskaya, D Chen, YA Cohen, ASA Dupuis, L Butcher, DT Siu, MT Luk, HM Lo, IFM Lam, STS Caluseriu, O Stavropoulos, DJ Reardon, W Mendoza-Londono, R Brudno, M Gibson, WT Chitayat, D	2015
NSD1+/- DNA methylation (DNAm) signature: A novel functional diagnostic tool for Sotos syndrome Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2014	Chonufani, S Cytrynbaum, C Chung, BHY Turinsky, AL Grafodatskaya, D Chen, YA Luk, HM Lo, IFM Lam, STS Stavropoulos, DJ Gibson, B Reardon, M Brudno, M Mendoza-Londono, R Chitayat, D Weksberg, R	2014
Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature Journal:American Journal of Medical Genetics Part A	Seto, MTY Bertoli-Avella, AM Cheung, KW Chan, KYK Yeung, KS Fung, JLF Beetz, C Bauer, P Luk, HM Lo, IFM Lee, CP Chung, BHY Kan, ASY	2021
A prenatal case of split-hand malformation associated with 17p13.3 triplication – A dilemma in genetic counseling Journal:European Journal of Medical Genetics	Luk, HM Wong, VCH Lo, IFM Chan, YK Lau, ETK Kan, SYA Tang, MHY Tang, WF She, WMK Chu, WY Sin, WK Chung, BHY	28-Jan-2014

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