Exome sequencing in paediatric patients with movement disorders.
Anna Ka-Yee KwongMandy Ho-Yin TsangJasmine Lee-Fong FungChristopher Chun-Yu MakKate Lok-San ChanRichard J T RodenburgMonkol LekShushu HuangSander PajusaluMan-Mut YauCheung TsoiSharon FungKam-Tim LiuChe-Kwan MaSheila WongEric Kin-Cheong YauShuk-Mui TaiEva Lai-Wah FungNick Shun-Ping WuLi-Yan TsungJan SmeitinkBrian Hon-Yin ChungCheuk-Wing FungPublished in: Orphanet journal of rare diseases (2021)
A diagnostic yield of 32% (10/31) was reported in our cohort and this allows a better prediction of prognosis and contributes to a more effective clinical management. The study highlights the potential of implementing precision medicine in the patients.