Nicole Si Yan Liang

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

Alissa M. D’Gama, Sarah Mulhern, Beth Rosen Sheidley et al. · The Lancet Neurology · 2023 · 74 citations · Full text

Medicine, Genetics, Pediatrics +15

After genomic testing results: <i>Parents’ long‐term views</i>

Nicole Si Yan Liang, Shelin Adam, Alison M. Elliott et al. · Journal of Genetic Counseling · 2021 · 24 citations · Full text

Life Sciences, Genetics, Pediatrics +16

Parental Preferences for Expanded Newborn Screening: What Are the Limits?

Nicole Si Yan Liang, Abby Watts-Dickens, David Chitayat et al. · Children · 2023 · 12 citations · Full text

Medicine, Child Health, Pediatrics +15

Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions

Ali AlMail, Ahmed Jamjoom, Amy Pan et al. · npj Genomic Medicine · 2024 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11