Sophelia Hoi Shan Chan (Sophelia H S Chan, Sophelia Hoi-Shan Chan)

Scopus Author ID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 16

Top Topics

Duchenne Muscular Dystrophy

Respiratory Syndrome Coronavirus

Top Venues

medRxiv : the preprint server for health sciences

Molecular genetics & genomic medicine

Nature communications

Journal of neurology, neurosurgery, and psychiatry

This page only lists publications with an associated author ORCID identifier.

Publications

Carlos King-Ho Wong, Kristy T K Lau, Ivan C H Au, Sophelia Hoi Shan Chan, Eric Ho Yin Lau, Benjamin John Cowling, Gabriel Matthew Leung
Effectiveness of nirmatrelvir/ritonavir in children and adolescents aged 12-17 years following SARS-CoV-2 Omicron infection: A target trial emulation. Nature communications 15 (1) (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Carlos King-Ho Wong, Kristy T K Lau, Ivan C H Au, Sophelia Hoi Shan Chan, Eric Ho Yin Lau, Benjamin John Cowling, Gabriel Matthew Leung
Effectiveness of nirmatrelvir/ritonavir in children and adolescents aged 12-17 years following SARS-CoV-2 Omicron infection: A target trial emulation. Nature communications 15 (1) (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Michael Kwan Leung Yu, Sophelia Hoi Shan Chan, Samuel M S Cheng, Daniel Leung, Sau Man Chan, Amy Suen Ka Yan, Wilfred Hing-Sang Wong, Joseph S Malik Peiris, Yu-Lung Lau, Jaime Sou Da Rosa Duque
Hesitancy, reactogenicity and immunogenicity of the mRNA and whole-virus inactivated Covid-19 vaccines in pediatric neuromuscular diseases. Human vaccines & immunotherapeutics (2023)
Michael Kwan Leung Yu, Alice Yuen Yee Chiu, Shuk Kuen Chau, Jaime Sou Da Rosa Duque, Wilfred Hing-Sang Wong, Sophelia Hoi Shan Chan
A pilot study of an integrated, personalized, respiratory and motor telerehabilitation program for pediatric patients with hereditary neuromuscular disorders. Muscle & nerve (2023)
Sophelia Hoi Shan Chan, Carlos K H Wong, Tingting Wu, Wilfred Wong, Michael K L Yu, Ivan C H Au, Godfrey C F Chan
Significant healthcare burden and life cost of spinal muscular atrophy: real-world data. The European journal of health economics : HEPAC : health economics in prevention and care (2022)
Winnie Wan Yee Tso, Mike Yat-Wah Kwan, Yu Liang Wang, Lok Kan Leung, Daniel Leung, Gilbert T Chua, Patrick Ip, Daniel Yee-Tak Fong, Wilfred Hing-Sang Wong, Sophelia Hoi Shan Chan, Jasper Fuk-Woo Chan, Joseph S Malik Peiris, Yu-Lung Lau, Jaime Sou Da Rosa Duque
Severity of SARS-CoV-2 Omicron BA.2 infection in unvaccinated hospitalized children: comparison to influenza and parainfluenza infections. Emerging microbes & infections 11 (1) (2022)
Sophelia Hoi Shan Chan, Jong-Hee Chae, Yin-Hsiu Chien, Tae-Sung Ko, Jee Hun Lee, Yun Jeong Lee, Sang Ook Nam, Yuh-Jyh Jong
Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions. Journal of neurology, neurosurgery, and psychiatry 92 (11) (2021)
Annie Ting Gee Chiu, Jingjing Li, Richard Shek Kwan Chang, Claudia Ching Yan Chung, Wilfred Hing-Sang Wong, Patrick Ip, Sophelia Hoi Shan Chan
Prevalence and healthcare utilization of rare neurological diseases in Hong Kong: 2014-2018. European journal of neurology 28 (7) (2021)
Paul A Koljonen, Sophelia Hoi Shan Chan, Wai K T Liu, Alvin C C Ho, Stella Chim, Nai Shun Tsoi, Yat Wa Wong
Intrathecal Baclofen Pump Infection With Meningitis: Effective Treatment by Radical Debridement and Intrareservoir Baclofen-Vancomycin Co-Infusion. Neuromodulation : journal of the International Neuromodulation Society 24 (7) (2021)
Kit San Yeung, Florrie N Y Yu, Cheuk Wing Fung, Sheila Wong, Hencher H C Lee, Sharon T H Fung, Genevieve P G Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K S Ng, Mullin H C Yu, Jasmine L F Fung, Mandy H Y Tsang, Kelvin Y K Chan, Sophelia Hoi Shan Chan, Anita S Y Kan, Brian Hon-Yin Chung
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes. Molecular genetics & genomic medicine 8 (7) (2020)
Mandy H Y Tsang, Annie Ting Gee Chiu, Bernard M H Kwong, Rui Liang, Mullin Ho-Chung Yu, Kit-San Yeung, Wetor H L Ho, Christopher Chun Yu Mak, Gordon K C Leung, Steven L C Pei, Jasmine L F Fung, Virginia C N Wong, Francesco Muntoni, Brian Hon-Yin Chung, Sophelia Hoi Shan Chan
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients. Molecular genetics & genomic medicine 8 (5) (2020)