Mandy Ho‐Yin Tsang

Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs

Claudia Ching Yan Chung, Gordon K. C. Leung, Christopher Chun Yu Mak et al. · The Lancet Regional Health - Western Pacific · 2020 · 68 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Guoliang Chai, A. Dinsmoor Webb, Chen Li et al. · Neuron · 2020 · 59 citations · Full text

Life Sciences, Genetics, Neuroscience +12

A fatal case of <i>COQ7</i>‐associated primary coenzyme Q₁₀ deficiency

Anna Ka‐Yee Kwong, Annie Ting Gee Chiu, Mandy Ho‐Yin Tsang et al. · JIMD Reports · 2019 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy

Mandy Ho‐Yin Tsang, Gordon Ka‐Chun Leung, Alvin Chi-chung Ho et al. · Epilepsia Open · 2018 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Exome sequencing in paediatric patients with movement disorders

Anna Ka‐Yee Kwong, Mandy Ho‐Yin Tsang, Jasmine Lee‐Fong Fung et al. · Orphanet Journal of Rare Diseases · 2021 · 26 citations · Full text

Life Sciences, Genetics, Neurology +15