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| Title | Author(s) | Issue Date | Views | |
|---|---|---|---|---|
Evaluating the clinical utility of genome sequencing for cytogenetically balanced chromosomal abnormalities in prenatal diagnosis Proceeding/Conference:Health Research Symposium 2021 | 2021 | 16 | ||
| 2021 | 44 | |||
Evaluating the diagnostgic impact and cost of rapid whole-exome sequencing for rare genetic diseases in Hong Kong Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, &
Hong Kong College of Paediatric Nursing | 2019 | 36 | ||
| 2018 | 96 | |||
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy Journal:Epilepsia Open | 2019 | 111 | ||
Exome sequencing in paediatric patients with movement disorders [accepted - OJRD-D-20-00713R2] Journal:Orphanet Journal of Rare Diseases | 2021 | 44 | ||
Exome sequencing of a Chinese patient cohort with ID/ASD and macrocephaly/megalencephaly: Identification of a patient with biallelic PTEN mutations and others with germline/ post-zygotic mutations in PIK3C-AKT-mTOR pathway Proceeding/Conference:17th Manchester Dysmorphology Conference | 2016 | 43 | ||
Expanded carrier screening panels and the prevention of inherited monogenic diseases: The first key in precision medicine evaluated using 1116 Hong Kong Chinese exome sequencing data Proceeding/Conference:Joint Annual Scientific Meeting 2020 of The Hong Kong Paediatric Society (HKPS), Hong Kong College of Paediatricians (HKCPaed), Hong Kong Paediatric Nurses Association (HKPNA) and Hong Kong College of Paediatric Nursing (HKCPN) | 2020 | 53 | ||
Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis Journal:Frontiers in Genetics | 2022 | 4 | ||
Genetic diagnosis of drug-resistant epilepsy by whole exome sequencing and chromosomal array in Hong Kong Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians cum Hong Kong-Guangdong-Shanghai-Chongqing Paediatric Exchange Meeting, 2016 | 2016 | 47 | ||
Genetic diagnosis of early onset epilepsy by whole exome sequencing and chromosomal array in Hong Kong Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016 | 2016 | 31 | ||
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong Journal:American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2019 | 81 | ||
Genetic literacy and awareness of personalized medicine among undergraduates in Hong Kong Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, &
Hong Kong College of Paediatric Nursing | 2019 | 32 | ||
| 2017 | 137 | |||
How common is mosaicism? The 9 years-experience in a university affiliated genetic clinic in Hong Kong Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, &
Hong Kong College of Paediatric Nursing | 2019 | 62 | ||
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 | 2016 | 67 | ||
Identification of epigenetic alterations in imprinting growth disorders Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting | 2014 | 24 | ||
| 2017 | 75 | |||
| 2018 | 111 | |||
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies Journal:Scientific Reports | 2018 | 100 |