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Title	Author(s)	Issue Date	Views
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
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	47
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
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
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	111
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	113
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	80
Health professionals’ involvement and information provision in genetic counseling following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong Journal:International Journal of Gynecology & Obstetrics	So, PL Cheng, YKY Cheuk, KY Chiu, WK Mak, SL Mok, SL Lo, TK Yung, WK Lo, FMI Chung, BHY Kan, SYA Lee, CP Tang, MHY	2019	61
Homozygous Missense Mutation in ABR Causes Cerebellar Hypoplasia with Early Lethality - A New Condition Identified by Exome Sequencing? Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Ying, D Shek, NWM Chu, WY Yeung, KS Leung, KC Tang, MHY Kan, SYA Chan, YK Chung, BHY	2014	67
Identification of a novel homozygous missense mutation in ABR causing cerebellar hypoplasia with early lethality Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	Leung, GKC Ying, D Shek, NWM Chu, WY Yeung, KS Tang, MHY Kan, SYA Chan, YK Ip, JKJ Yang, W Lau, YL Chung, BHY	2016	52
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES) Journal:BMC Medical Genomics	Leung, KC Mak, CCY Fung, LF Wong, WHS Tsang, HY Yu, HC Pei, LCS Yeung, KS Mok, TKG Lee, CP Hui, PW Tang, MHY Chan, YK Liu, APY Yang, W Sham, PC Kan, SYA Chung, BHY	2018	111
Immunoprophylaxis Failure of Infants Born to Hepatitis B Carrier Mothers Following Routine Vaccination Journal:Clinical Gastroenterology and Hepatology	Cheung, KW Seto, TYM Kan, SYA Jalal, K Chee, WYY Wong, RMS Lee, CP Ng, EHY	2018
Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies Journal:Genes	So, PL Hui, AST Ma, TWL Shu, W Hui, PW Kong, CW Lo, TK Kan, ABC Kan, EYL Chong, SC Chung, BHY Luk, HM Choy, KW Kan, SYA Leung, WC	2022
Next Generation Sequencing in Prenatal Diagnosis Proceeding/Conference:12th Asia-Pacific Conference on Human Genetics "Genomic Medicine and Clinical Practice", Bangkok, Thailand, 8-10 November 2017	LEUNG, KC Kan, SYA Chung, BHY	2017	48
Next generation sequencing in prenatal diagnosis Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017	Leung, GKC Mak, CCY Pei, SLC Tsang, MHY Yu, MHC Yeung, KS Mok, GTK Hui, APW Tang, MHY Chan, KYK Kan, SYA Chung, BHY	2017
Parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong Journal:Journal of Obstetrics and Gynaecology Research	So, PL Cheng, YKY Cheuk, KY Chiu, WK Mak, SL Mok, SL Lo, TK Yung, WK Lo, FM Chung, BHY Kan, SYA Lee, CP Tang, MHY	2017	109

Showing results 7 to 26 of 35 < previous next >