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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
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
Before and after – Nutritional transformation of dysmorphism in a case of Costello syndrome Journal:European Journal of Medical Genetics	Chiu, TA Zhu, L Mok, TKG LEUNG, KC Chow, CB Chung, BHY	2016
Blood cell type-specific genome-wide DNA methylation analysis of Chinese patients with early-onset systemic lupus erythematosus identifies loss of DNA methylation in genes related to the Type I Interferon pathway Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017	Chung, BHY Yeung, KS Mok, TKG Choufani, S Lau, YL Weksberg, R	2017
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis Journal:Molecular Genetics & Genomic Medicine	LEUNG, KC Ying, D MAK, CCY Chen, XY Xu, W YEUNG, KS Wong, WL Chu, WY Mok, TKG Chau, SKC McLuskey, J Ong, WPT Leong, HY Chan, YK Yang, W Chen, JH Li, AM Sham, PC Lau, YL Chung, BHY Lee, SL	2017
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
Computer-aided facial recognition of Chinese individuals with Angelman Syndrome in Hong Kong Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	Mok, TKG Fleischer, N Luk, HM Chung, BHY	2016
Cover Image, Volume 176A, Number 5, May 2018 Journal:American Journal of Medical Genetics Part A	Kruszka, P Porras, AR de Souza, DH Moresco, A Huckstadt, V Gill, AD Boyle, AP Hu, T Addissie, YA Mok, TKG Tekendo-Ngongang, C Fieggen, K Prijoles, EJ Tanpaiboon, P Honey, E Luk, HM Lo, FMI Thong, MK Muthukumarasamy, P Jones, KL Belhassan, K Ouldim, K El Bouchikhi, I Bouguenouch, L Shukla, A Girisha, KM Sirisena, ND Dissanayake, VHW Paththinige, CS Mishra, R Kisling, MS Ferreira, CR de Herreros, MB Lee, NC Jamuar, SS Lai, A Tan, ES Lim, YJ Cham Breana, WM Gupta, N Lotz-Esquivel, S Badilla-Porras, R Hussen, DF El Ruby, MO Ashaat, EA Patil, SJ Dowsett, L Eaton, A Innes, AM Shotelersuk, V Badoe, E Wonkam, A Obregon, MG Chung, BHY Trubnykova, M La Serna, J Gallardo Jugo, BE Ghavez Pastor, M Abarca Barriga, HH Megarbane, A Kozel, BA van Haelst, MM Stevenson, RE Summar, M Adeyemo, AA Morris, CA Moretti-Ferreira, D Linguraru, MG Muenke, M	2018
De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients Journal:npj Genomic Medicine	MAK, CCY Chow, PC Liu, APY Chan, YK Chu, WY Mok, TKG LEUNG, KC YEUNG, KS Chau, AKT Lowther, C Scherer, SW Marshall, CR Bassett, AS Chung, BHY	2016
Down syndrome in diverse populations Journal:American Journal of Medical Genetics Part A	Kruszka, P Porras, AR Sobering, AK Ikolo, FA Qua, SL Shotelersuk, V Chung, BHY Mok, TKG Uwineza, A Mutesa, L Moresco, A Obregon, MG Sokunbi, OJ Kalu, N Joseph, DA Ikebudu, D Ugwu, CE Okoromah, CAN Addissie, YA Pardo, KL Brough, JJ Lee, NC Girisha, KM Patil, SJ Ng, ISL Mim, BCW Jamuar, SS Tibrewal, S Wallang, B Ganesh, S Sirisena, ND Dissanayake, VHW Paththinige, CS Prabodha, LBL Richieri-Costa, A Muthukumarasamy, P Thong, MK Jones, KL Abdul-Rahman, OA Ekure, EN Adeyemo, AA Summar, M Linguraru, MG Muenke, M	2017
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey Journal:npj Genomic Medicine	Mak, CCY Leung, KC Mok, TKG Yeung, KS Yang, W Fung, CW Chan, HSS Lee, SL Lee, NC Pfundt, R Lau, YL Chung, BHY	2018
Identification of a CFTR founder mutations, c.3068T>G:p.I1023R, which causes protein trafficking defects in Chinese patients with cystic fibrosis Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	Leung, KC Ying, D Mak, CCY Chen, XY Xu, W Yeung, KS Chu, WY Mok, TKG Chau, SKC McLuskey, J Ong, WPT Leong, HY Chan, YK Yang, W Chen, JH Li, AM Lau, YL Lee, SL Chung, BHY	2016
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
Noonan syndrome in diverse populations Journal:American Journal of Medical Genetics Part A	Kruszka, P Porras, AR Addissie, YA Moresco, A Medrano, S Mok, TKG LEUNG, KC Tekendo-Ngongang, C Uwineza, A Thong, MK Muthukumarasamy, P Honey, E Ekure, EN Sokunbi, OJ Kalu, N Jones, KL Kaplan, JD Abdul-Rahman, OA Vincent, LM Love, A Belhassan, K Ouldim, K El Bouchikhi, I Shukla, A Girisha, KM Patil, SJ Sirsena, ND Dissanayake, VHW Paththinige, CS Mishra, R Klein-Zighelboim, E Gallardo Jugo, BE Chavez P, M Abarca-Barriga, HH Skinner, SA Prijoles, EJ Badoe, E Gill, AD Shotelersuk, V Smpokou, P Kisling, MS Ferreira, CR Mutesa, L Megabane, A Kline, AD Kimball, A Okello, E Lwabi, P Aliku, T Tenywa, E Boonchooduang, N Tanpaiboon, P Richieri-Costa, A Wonkam, A Chung, BHY Stevenson, RE Summar, M Mandal, K Phadke, SR Obregon, MG Linguraru, MG Muenke, M	2017
Pathogenetics of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Journal:Human Genetics	Szafranski, P Gambin, T Dharmadhikari, AV Akdemir, KC Jhangiani, SN Schuette, J Godiwala, N Yatsenko, SA Sebastian, J Madan-Khetarpal, S Surti, U Abellar, RG Bateman, DA Wilson, AL Markham, MH Slamon, J Santos-Simarro, F Palomares, M Nevado, J Lapunzina, P Chung, BHY Wong, WL Chu, WY Mok, TKG Eitan, K Reiter, J Ambalavanan, N Anderson, SA Kelly, DR Shieh, J Rosenthal, TC Steiner, L Iqbal, MA McKinnon, M Hamilton, SJ Schlade-Bartusiak, K English, D Hendson, G Roeder, ER DeNapoli, TS Littlejohn, RO Wolff, DJ Wagner, CL Yeung, A Francis, D Fiorino, EK Edelman, M Fox, J Hayes, DA Janssens, S Baere, ED Menten, B Loccufier, A Walleghem, LV Moerman, P Sznajer, Y Lay, AS Kussmann, JL Chawla, J Payton, DJJ Philips, GE Brosens, E Tibboel, D de Klein, A Maystadt, I Fisher, R Sebire, N Male, A Chopra, M Pinner, J Malcolm, G Peters, G Arbuckle, S Lees, M Mead, Z Quarrell, O Sayers, R Owens, M Shaw-Smith, C Lioy, J McKay, E de Leeuw, N Feenstra, I Spruijt, L Elmslie, F Thiruchelvam, T Bacino, CA Langston, C Lupski, JR Sen, P Popek, E Stankiewicz, P	2016
Physical measurements for Chinese children - a pilot study in kindergartens of Hong Kong Proceeding/Conference:HKPS-HKPNA 2015 Joint Annual Scientific Meeting	Mok, TKG Chan, SSK Chu, WY Chan, SM Wong, WHS Chung, BHY	2015
Physical Measurements of Chinese Children in Hong Kong - A pilot study in preschools and kindergartens Journal:American Journal of Medical Genetics Part A	Mok, TKG Chan, SSK Chu, WY Chan, SM Wong, WHS Chung, BHY	2016
Use of chromosomal microarray in Hong Kong patients with autism spectrum disorder - implication of a copy number variation involving DPP10 Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2016	Chung, BHY Mak, SL Chiu, TA Leung, KC Mak, CCY Chu, WY Mok, TKG Chan, YK Kan, SYA Tang, MHY Lau, ETK Fung, CW Lee, SL	2016
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10 Journal:Molecular Autism	Mak, ASL Chiu, TA Leung, KC Mak, CCY Chu, WY Mok, TKG Tang, WF Chan, YK Tang, MHY Lau, ETK So, KW Tao, QV Fung, CW Wong, CNV Uddin, M Lee, SL Marshall, CR Scherer, SW Kan, ASY Chung, BHY	2017
Use of clinical chromosomal microarray in Hong Kong Chinese patients with autism spectrum disorder - implication of a copy number variation involving DPP10 Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	Chu, YWY Leung, KC Mak, ASL Chiu, TA Mak, CCY Mok, TKG Tang, WF Chan, YK Tang, MHY Lau, ETK So, KW Tao, QV Fung, CW Wong, VCN Lee, SL Marshall, C Scherer, S Kan, SYA Chung, BHY	2016

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