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Title	Author(s)	Issue Date
17p13.3 class I microduplication in a newborn with microcephaly, aortic stenosis and dysmorphic facial features Proceeding/Conference:Hong Kong Journal of Paediatrics (new series)	Ho, A Liu, A Lun, KS Tam, T Chan, K Lau, E Tang, M Tan, T Chung, B	2011
22q11.2 deletion syndrome in adult Chinese Patients with Conotruncal Anomalies: dysmorphisms, clinical features and underdiagnosis Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Liu, APY Chow, PC Lee, PPW Mok, TKG Tang, WF Lau, ETK Lam, STS Chan, KY Kan, SYA Chau, AKT Cheung, YF Lau, YL Chung, BHY	2013
22q11.2 deletion syndrome in diverse populations Journal:American Journal of Medical Genetics Part A	Kruszka, P Addissie, YA McGinn, DE Porras, AR Biggs, E Share, M Crowley, TB Chung, BHY Mok, TKG MAK, CCY Muthukumarasamy, P Thong, MK Siriseria, ND Dissanayake, VHW Paththinige, CS Prabodha, LBL Mishra, R Shotelersuk, V Ekure, EN Sokunbi, OJ Kalu, N Ferreira, CR Duncan, JM Patil, SJ Jones, KL Kaplan, JD Abdul-Rahman, OA Uwineza, A Mutesa, L Moresco, A Obregon, MG Richieri-Costa, A Gil-da-Silva-Lopes, VL Adeyemo, AA Summar, M Zackai, EH McDonald-McGinn, DM Linguraru, MG Muenke, M	2017
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features Journal:American Journal of Medical Genetics, Part A	Chung, BH Stavropoulos, J Marshall, CR Weksberg, R Scherer, SW Yoon, G	2011
2q23.1 microdeletion involving the MBD5 gene - large deletion associated with a relatively mild phenotype Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009	Chung, BHY Stavropoulos, DJ Weksberg, R Yoon, G	2009
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 case of pituitary stalk interruption syndrome caused by mutation in robo1 gene presenting with early onset growth failure Proceeding/Conference:2nd Joint Annual Research & Scientific Meeting 2018 of the Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association and Hong Kong College of Paediatric Nursing	Poon, WYS Tung, YL Chung, BHY	2018
A case of prenatal isolated talipes and 22q11.2 deletion syndrome-an important chromosomal disorder missed by noninvasive prenatal screening Journal:Prenatal Diagnosis	Cheung, KW Lai, WSC Mak, CCY Hui, PW Chung, BHY Kan, SYA	2018
A dyadic approach to the delineation of diagnostic entities in clinical genomics Journal:The American Journal of Human Genetics	Biesecker, LG Adam, MP Alkuraya, FS Amemiya, AR Barnshad, MJ Beck, AE Bennett, JT Bird, LM Carey, JC Chung, B Clark, RD Cox, TC Curry, C Dinulos, MBP Dobyns, WB Glampietro, PF Girisha, KM Glass, IA Graham, JM Gripp, KW Haldeman-Englert, CR Hall, BD Innes, AM Kalish, JM Keppler-Noreuil, KM Kosaki, K Kozel, BA Mirzaa, GM Mulvihill, JJ Nowaczyk, MJM Pagon, RA Retterer, K Rope, AF Sanchez-Lara, PA Stevens, LH Shieh, JT Slavotinek, AM Sobering, AK Stevens, CA Stevension, DA Tan, TY Tan, WH Tsai, AC Weaver, DD Williams, MS Zackai, E Zarate, YA	2021
A DYNC1H1 mutation causes a lower extremity predominance spinal muscular atrophy Proceeding/Conference:Annual Scientific Meeting of the Asian and Oceanian Myology Center, AOMC 2016	Chan, SHS Chung, BHY Mak, CCY Kamsteeg, EJ	2016
A fatal case of COQ7-associated primary coenzyme Q10 deficiency Journal:JIMD Reports	Kwong, AKY Chiu, ATG TSANG, MHY Lun, KS Rodenburg, RJT Smeitink, J Chung, BHY Fung, CW	2019
A feasibility study for rapid Whole-Exome Sequencing for paediatric genetic disorders in Hong Kong Proceeding/Conference:European Human Genetics Conference, ESGH 2017	Chung, BHY Leung, G Mak, CCY Yeung, K Lee, S Lau, YL Chan, GCF	2017
A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report Journal:Diagnostics	Ng, KSV Lau, TK Kan, SYA Chung, BHY Luk, HM Ng, WF Shi, M Choy, KW Cao, Y Leung, WC	2021
A girl with multiple epiphyseal dysplasia due to novel C.955G >T mutation in the cartilage oligomeric matrix protein Proceeding/Conference:2nd Joint Annual Research & Scientific Meeting 2018 of the Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association and Hong Kong College of Paediatric Nursing	Lai, SHY Tung, YL Chung, BHY	2018
A Mendelian randomization study Proceeding/Conference:2023 American Society of Human Genetics Annual Meeting (01/11/2023-05/11/2023, , , Washington)	Chung, Brian Hon Yin	5-Nov-2023
A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update Journal:American Journal of Medical Genetics Part A	Chiu, ATG Leung, GKC Chu, YWY Gripp, KW Chung, BHY	2017
A novel role of CC2D1A in human heterotaxy and ciliary dysfunction Proceeding/Conference:Joint Annual Scientific Meeting 2020 of The Hong Kong Paediatric Society (HKPS), Hong Kong College of Paediatricians (HKCPaed), Hong Kong Paediatric Nurses Association (HKPNA) and Hong Kong College of Paediatric Nursing (HKCPN)	Mak, CCY Ma, ACH Yeung, KS Pei, LCS Ying, D Yu, HC Hasan, KMM Chen, X Cheung, YF Chung, BHY	2020
A pilot study on the clinical utility of blocker displacement amplification to detect rare alleles in mosaicism Proceeding/Conference:Joint Annual Scientific Meeting 2020 of The Hong Kong Paediatric Society (HKPS), Hong Kong College of Paediatricians (HKCPaed), Hong Kong Paediatric Nurses Association (HKPNA) and Hong Kong College of Paediatric Nursing (HKCPN)	Lee, M Fung, JLF Yeung, KS Chung, BHY	2020
A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality Journal:Neuromuscular Disorders	Chan, HSS Van Alfen, N Thuestad, IJ Ip, J Chan, AOK MAK, CCY Chung, BHY Aad, VERRIPS Erik-Jan, KAMSTEEG	2018
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

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