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Title	Author(s)	Issue Date	Views
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	98
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	26
A family with primordial dwarfism requesting preimplantation genetic testing Proceeding/Conference:Asia Pacific Society of Human Genetics (APSHG) Autumn School 2018	Kan, SYA	2018	4
A fetus coexisting with a complete hydatidiform mole with trisomy 9 of maternal origin Journal:Journal of Obstetrics and Gynaecology Research	Kan, SYA Lau, ETK So, CH Chan, WP Wong, WC Lee, KC Pertile, MD Tang, MHY	2018	1
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 prenatal case of Noonan syndrome with cystic hygroma and normal karyotype Proceeding/Conference:1st BCM-CUHK (Baylor College of Medicine-The Chinese University of Hong Kong) Joint Symposium in Clinical Genetics and Birth Defects, 2017	So, PL Luk, HM Kan, SYA	2017	2
An Unusual Hydrops Fetalis Associated with Compound Heterozygosity for Krüppel-like Factor 1 mutations Journal:Hemoglobin	Lee, HLH Mak, ASL Kou, KOT Poon, CF Wong, WS Chiu, KH Au, HHL Chan, YK Kan, SYA Tang, MHY Leung, KY	2016	14
Beta thalassaemia intermedia due to silent alpha globin gene quadruplication in an infant Journal:Pathology	So, JCC Chiang, AKS Kan, SYA Lee, VCY Ng, EHY	2014	33
Biallelic TMEM260 variants cause Truncus Arteriosus, with or without renal defects Journal:Clinical Genetics	Pagnamenta, AT Jackson, A Perveen, R Beaman, G Petts, G Gupta, A Hyder, Z Chung, BHY Kan, SYA Cheung, KW Kerstjens-Frederikse, WS Abbott, KM Ambrose, JC Arumugam, P Bevers, R Bleda, M Boardman-Pretty, F Boustred, CR Brittain, H Caulfield, MJ Chan, GC Elgar, G Fowler, T Giess, A Hamblin, A Henderson, S Hubbard, TJP Jackson, R Jones, LJ Kasperaviciute, D Kayikci, M Kousathanas, A Lahnstein, L Leigh, SEA Leong, IUS Lopez, JF Maleady-Crowe, F McEntagart, M Minneci, F Moutsianas, L Mueller, M Murugaesu, N Need, AC O'Donovan, P Odhams, CA Patch, C Pereira, MB Perez-Gil, D Pullinger, J Ragun, T Rendon, A Rogers, T Savage, K Sawant, K Scott, RH Sudduq, A Sieghart, A Smith, SC Sosinsky, A Stuckey, A Tanguy, M Tavares, ALT Thomas, ERA Thompson, SR Tucci, A Welland, MJ Williams, E Witkowska, K Wood, SZ Elpeleg, O Taylor, C Banka, S Ta-Shma, A	2021
Bridging the gap from prenatal karyotyping to whole-genome array comparative genomic hybridization in Hong Kong: survey on knowledge and acceptance of health-care providers and pregnant women Journal:Archives of Gynecology and Obstetrics	Cheng, HYH Kan, SYA Hui, PW Lee, CP Tang, MHY	2017
Chromosomal Microarray (CMA) replacing traditional Karyotyping in HA Prenatal Diagnosis Service Proceeding/Conference:Hospital Authority Convention 2019	Kan, SYA	2019
The clinical impact of chromosomal microarray on paediatric care in Hong Kong Journal:PLoS ONE	Tao, QV Chan, YK Chu, WY Mok, TKG Tan, TY Yang, W Lee, SL Tang, WF Tso, WYW Lau, ETK Kan, SYA Tang, MHY Lau, YL Chung, BHY	20-Oct-2014	87
Clinical Quiz - What is the Diagnosis Journal:Hong Kong Journal of Paediatrics (New series)	Poon, WYS Tao, QV Kan, SYA Chung, BHY	2018	7
Clinical utility of whole-genome sequencing for cytogenetically balanced chromosomal abnormalities in genetic diseases Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, & Hong Kong College of Paediatric Nursing	Yu, MHC Au, LKS Chan, YK Tang, MHY Kan, SYA Chung, BHY	2019
Cryptic 12q duplication: a case study Proceeding/Conference:1st BCM-CUHK (Baylor College of Medicine-The Chinese University of Hong Kong) Joint Symposium in Clinical Genetics and Birth Defects, 2017	Lam, OM Tam, WK Tang, YF Li, KM Chan, YK Kan, SYA	2017	2
Decision outcomes in women offered noninvasive prenatal test (NIPT) for positive Down screening results Journal:The Journal of Maternal-Fetal & Neonatal Medicine	Lo, TK Chan, YK Kan, SYA So, PL Kong, CW Mak, SL Lee, CN	2019
Effect of knowledge on women’s likely uptake of and willingness to pay for non-invasive test (NIPT) Journal:European Journal of Obstetrics & Gynecology and Reproductive Biology	Lo, TK Chan, YK Kan, SYA So, PL Kong, CW Mak, SL Lee, CN	2018	1
Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome Journal:Hong Kong Medical Journal	Kou, KOT Poon, CF Kwok, SL Chan, KY Tang, MHY Kan, SYA Leung, KY	2016	22
Exome sequencing identifies compound heterozygous DYNC2H1 variants associated with short-rib polydactyly syndrome type III with involvement of omphalocele in a fetus. Proceeding/Conference:23rd Internatinal Conference on Prenatal Diagnosis and Therapy (ISPD 2019)	Chan, YK Au, LKS Cheung, KW Yeung, KS Yu, HC Chung, BHY Kan, SYA	2019	10
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy Journal:Epilepsia Open	Tsang, HY Leung, KC Ho, CCA Yeung, KS Mak, CCY Pei, LCS Yu, HC Kan, SYA Chan, YK Kwong, KL Lee, SL Yung, AWY Fung, CW Chung, BHY	2019	28

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