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Title	Author(s)	Issue Date
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
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	2022
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
Clinical Quiz - What is the Diagnosis Journal:Hong Kong Journal of Paediatrics (New series)	Poon, WYS Tao, QV Kan, SYA Chung, BHY	2018
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
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
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept Journal:npj Genomic Medicine	Lee, M Kwong, KY Chui, MCM CHAU, FTJ Mak, CCY Au, LKS Lo, HM Chan, YK Yepez, VA Gagneur, J Kan, SYA Chung, BHY	2022
Dysregulation of the CD147 complex confers defective placental development: A pathogenesis of early‐onset preeclampsia Journal:Clinical and Translational Medicine	Lee, CL Chen, Z Zhang, Q Guo, Y Ng, WYV Zhang, B Bai, K Ruan, D Kan, SYA Cheung, KW Mak, SLA Yeung, WSB Su, R Yang, Q Chen, M Du, M Zhang, J Fan, X Chiu, CN	2022
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
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
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
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
Expanded Prader-Willi Syndrome Due to Chromosome 15q11.2-14 Deletion: Report and a Review of Literature Journal:American Journal of Medical Genetics, Part A	Liu, APY Tang, WF Lau, ETK Chan, YK Kan, SYA Wong, KY Tso, WYW Jalal, K Lee, SL Chau, CSK Chung, BHY	2013
Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong Journal:American Journal of Medical Genetics Part C: Seminars in Medical Genetics	Cheng, SSW Chan, YK Leung, KKP Au, PKC Tam, WK Li, SKM Luk, HM Kan, SYA Chung, BHY Lo, FMI Tang, MHY	2019
First Case Report of Maternal Mosaic Tetrasomy 9p Incidentally Detected on Non-Invasive Prenatal Testing Journal:Genes	Shu, W Cheng, SS.W.Xue, S Chan, LW Soong, SI Kan, SYA Cheung, SWH Choy, KW	2021
First Report of a Novel Deletion Due to εγδβ-Thalassemia in a Chinese Family Journal:Hemoglobin	Hui, ASY Au, PKC Ting, YH Kan, SYA Cheng, YKY Leung, AWK Chan, YK Li, CK Tang, MHY Leung, TY	2017
Genetic counseling/consultation in South-East Asia: A report from the workshop at the 10th Asia Pacific Conference on Human Genetics Journal:Journal of Genetic Counseling	Zayts, OA Sarangi, S Thong, MK Chung, BHY Lo, FM Kan, SYA Lee, MH Padilla, CD Cutiongco-de la Paz, EM Faradz, MHS Wasant, P	2013

Showing results 11 to 30 of 61 < previous next >