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	Title	Author(s)	Issue Date
	Phenotype-driven variant prioritization and re-analysis enhances genetic diagnosis of neuromuscular disorders Proceeding/Conference:Joint Conference of the 22nd Annual Meeting of Asian Oceanian Myology Center and the 10th Annual Meeting of Japan Muscle Society (AOMC-JMS 2024) (12/09/2024-15/09/2024, Nara)	She, CHLei, YYang, WanlingChan, Sophelia HS	15-Sep-2024
	Restoration of calcium handling abnormalities in Becker muscular dystrophy patient-derived induced pluripotent stem cell differentiated cardiomyocytes with Givinostat treatment Proceeding/Conference:ISSCR 2025 Annual Meeting (International Society for Stem Cell Research) (11/06/2025-14/06/2025, Hong Kong)	Law, Laalaa HTLui, JeffreyCheng, YinLaw, Anna HYKwok, Maxwell KSTse, HFPoon, Ellen NYCheung, YFCheung, Tom HTChan, Sophelia HS	14-Jun-2025
	Use of gait analysis and wearable metabolic system in patients with SMA with disease-modifying treatment Proceeding/Conference:18th International Congress on Neuromuscular Diseases (ICNMD 2024) (25/10/2024-29/10/2024, Perth)	Lai, Joyce HYChan, Nerita NCHo, Stephanie PSWong, Ivy KKLao, Miko LMChan, Helen KFChan, Stephen WWChan, Sophelia HS	29-Oct-2024
	Identification of key gene functions impaired in dystrophinopathy by transcriptomic analysis of patient-derived iPSC-cardiomyocytes Proceeding/Conference:Joint Conference of the 22nd Annual Meeting of Asian Oceanian Myology Center and the 10th Annual Meeting of Japan Muscle Society (AOMC-JMS 2024) (12/09/2024-15/09/2024, Nara)	Lui, JCheng, Stephen YLaw, Anna HYZhu, STse, HFChan, G CFCheung, YFChan, Sophelia HS	15-Sep-2024
	Respiratory outcomes of SMA patients receiving Nusinersen in Hong Kong Proceeding/Conference:Cure SMA 2025 Annual SMA Research and Clinical Care meeting (25/06/2025-27/06/2025, Anaheim )	Hung, JacquelineSiu, Ka KaChau, Shuk KuenLee, So LunChan, Sophelia Hoi Shan	27-Jun-2025
	Solving challenging titinopathy cases via multi-omics Proceeding/Conference:World Muscle Society 2024 Congress (08/10/2024-12/10/2024, Prague)	Zhang, YXu, LLei, YBönnemann, CGChan, SJaved, A	12-Oct-2024
	Rate of Hospitalization and Severity of Status Asthmaticus Among Children in Hong Kong Before, During and After the COVID-19 Pandemic Proceeding/Conference:ATS 2024 (17/05/2024-22/05/2024, SAN DIEGO, LA, US)	Siu, Ka KaYu, Kwan Leung MichaelSou Da Rosa Duque, JaimeChan, Hoi Shan SopheliaLau, Yu LungLee, So Lun	30-Apr-2024
	Genome Program Evaluation: Hong Kong perspective Proceeding/Conference:Virtual Workshop - Measuring the value of genomics in healthcare (08/11/2024-08/11/2024)	Chung, Brian Hon Yin	8-Nov-2024
	Diagnostics and treatment development in Hong Kong for rare diseases Proceeding/Conference:Rare Disease Symposium 2024 (30/11/2024-30/11/2024, Hong Kong)	Chung, Brian Hon Yin	30-Nov-2024
	Improving child heath through genomic medicine – Lessons learnt from the Hong Kong Genome Project Proceeding/Conference:Nature "Precision Child Health: from Technology to Translation" (30/09/2024-02/10/2024, Toronto)	Chung, Brian Hon Yin	2-Oct-2024
	Identifying a possible mechanism for Sudden Infant Death with Dysgenesis of Testes Syndrome (SIDDT) Proceeding/Conference:The 60th Anniversary Golden Jubilee Scientific Meeting 2024. Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong (13/04/2024-13/04/2024, Hong Kong)	Miao, XinfangTan, HuiqiLuo, XuChan, Siu Yuen	13-Apr-2024
	How does nusinersen affect scoliosis progression in spinal muscular atrophy? A prospective longitudinal study. 16th Asian Oceanian Congress of Child Neurology Harmonizing the Diversity in Child Neurology. Bangkok, Thailand. 4-6 Aug 2023 Proceeding/Conference:16th Asian Oceanian Congress of Child Neurology Harmonizing the Diversity in Child Neurology (04/08/2023-06/08/2023, , , Bangkok, Thailand)	Ip, HN HayleyYu, Michael KLWong, Wilfred HSKwan, Kenny YHChan, Sophelia HS	6-Aug-2023
	Genetic and clinical characterization of fascioscapulohumeral muscular dystrophy type 1 in Hong Kong. The 21st Asian and Oceanian Myology Center Meeting in Shanghai, China 26-28 Oct 2023 Proceeding/Conference:The 21st Asian and Oceanian Myology Center Meeting (26/10/2023-28/10/2023, , , Shanghai, China)	Pang, ShirleyYu, Michael KLGao, YuanKwong, Anna KYLaw, Patrick TWHira, KhanCheng, Stephen YChan, Godfrey CFChan, Sophelia HS	28-Oct-2023
	Use of gait analysis in detecting the functional changes of a patient with spinal muscular atrophy The 21st Asian and Oceanian Myology Center Meeting in Shanghai, China 26-28 Oct 2023 Proceeding/Conference:The 21st Asian and Oceanian Myology Center Meeting (26/10/2023-28/10/2023, , , Shanghai, China)	Chan, Nar ChiLao, Miko LMWong, Ivy KKChan, Helen KFLai, Joyce HYChan, Stephen WWChan, Sophelia HS	28-Oct-2023
	Clinical and genetic characteristics of 8 Chinese patients with ACTA1 congenital myopathy. The 21st Asian and Oceanian Myology Center Meeting in Shanghai, China 26-28 Oct 2023 Proceeding/Conference:The 21st Asian and Oceanian Myology Center Meeting (26/10/2023-28/10/2023, , , Shanghai, China)	Fung, Sharon TFChan, Sophelia HS	28-Oct-2023
	The establishment of an X-linked dilated cardiomyopathy patient-derived induced pluripotent stem cells disease model to study the effect of mutation-correction and for drug screening. The 21st Asian and Oceanian Myology Center Meeting in Shanghai, China 26-28 Oct 2023 Proceeding/Conference:The 21st Asian and Oceanian Myology Center Meeting (26/10/2023-28/10/2023, , , Shanghai, China)	Cheng, Stephen YLaw, Anna HYZhu, SLui, JChan, Jacky TYNg, KMPoon, Ellen NYCheung, YFTse, HFChan, Godfrey CFChan, Sophelia HS	28-Oct-2023
	Improvement in motor function, health-related quality of life and self-reported outcomes in patients and their families with spinal muscular atrophy, The 21st Asian and Oceanian Myology Center Meeting in Shanghai, China 26-28 Oct 2023 Proceeding/Conference:The 21st Asian and Oceanian Myology Center Meeting (26/10/2023-28/10/2023, , , Shanghai, China)	Ip, Hayley HNYu, Michael KLCheng, PKChau, YSLeung, Ruth SYWong, Wilfred HSChan, Sophelia HS	28-Oct-2023
	Dystrophin expression and epigenetic drug treatment restore the dysregulated gene expressions in XLDCM patient-derived cardiomyocytes disease model. The 21st Asian and Oceanian Myology Center Meeting in Shanghai, China 26-28 Oct 2023 Proceeding/Conference:The 21st Asian and Oceanian Myology Center Meeting (26/10/2023-28/10/2023, , , Shanghai, China)	Lui, JLaw, Anna HYZhu, SCheng, Stephen Y[?], JackyCheung, YFTse, HFChan, Godfrey CFChan, Sophelia HS	28-Oct-2023
	Physiotherapy training for a patient with spinal muscular atrophy on nusinersen treatment – a case study. The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association and Hong Kong College of Paediatric Nursing Joint Annual Scientific meeting on 27th Jan 2024. Proceeding/Conference:Hong Kong Paediatric Nurses Association and Hong Kong College of Paediatric Nursing Joint Annual Scientific meeting (27/01/2024-27/01/2024, , , Hong Kong )	Cheung, MWChan, Sophelia HSHo, YBChan, Stephen WW	27-Jan-2024
	Establishment of integrated, personalized respiratory and motor telerehab program for paediatric patients with hereditary neuromuscular disorders: What is next? The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association and Hong Kong College of Paediatric Nursing Joint Annual Scientific meeting on 27th Jan 2024 Proceeding/Conference:Hong Kong Paediatric Nurses Association and Hong Kong College of Paediatric Nursing Joint Annual Scientific meeting (27/01/2024-27/01/2024, , , Hong Kong )	Yu, Michael KLChiu, Alice YYChau, SKDuque, Jaime SRWong, Wilfred HSChan, Sophelia HS	27-Jan-2024