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Title	Author(s)	Issue Date
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
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 family with primordial dwarfism requesting preimplantation genetic testing Proceeding/Conference:Asia Pacific Society of Human Genetics (APSHG) Autumn School 2018	Kan, SYA	2018
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
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
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases Journal:Nature	Mensah, MA Niskanen, H Magalhaes, AP Basu, S Kircher, M Sczakiel, HL Reiter, AMV Elsner, J Meinecke, P Biskup, S Chung, BHY Dombrowsky, G Eckmann=Schoiz, C Hitz, MP Hoischen, A Holterhus, PM Hulsemann, W Kahrizi, K Kalscheuer, VM Kan, SYA Krumbiegel, M Kurth, I Leubner, J Longardt, AC Moritz, JD Najmabadi, H Skipalova, K Snijders, BL Tzschach, A Wiedersberg, E Zenker, M Garcia-Cabau, C Buschow, R Salvatella, X Kraushar, ML Mundlos, S Callebe, A Spielmann, M Horn, D Hnisz, D	2023
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
Analytical validity and clinical utility of whole-genome sequencing for cytogenetically balanced chromosomal abnormalities in prenatal diagnosis: abridged secondary publication Journal:Hong Kong Med J	Chung, BHY Kan, SYA Chan, YK Yang, W Tang, HYM Mak, CCY	2022
Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory Journal:Healthcare	Lai, HTT Lau, ETK Lau, YTE Lo, HM Chan, YK Cheung, KW Ma, TWL Leung, WC Kong, CW Shu, W So, PL Kwong, KY Mak, CCY Lee, M Chui, MCM Chung, BHY Kan, SYA	2022
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

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