Search Results - "Liang, Nicole S. Y"

Parental Preferences for Expanded Newborn Screening: What Are the Limits? by Liang, Nicole S. Y, Watts-Dickens, Abby, Chitayat, David, Babul-Hirji, Riyana, Chakraborty, Pranesh, Hayeems, Robin Z

“…The use of next-generation sequencing technologies such as genomic sequencing in newborn screening (NBS) could enable the detection of a broader range of…”
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Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions by AlMail, Ali, Jamjoom, Ahmed, Pan, Amy, Feng, Min Yi, Chau, Vann, D’Gama, Alissa M., Howell, Katherine, Liang, Nicole S. Y., McTague, Amy, Poduri, Annapurna, Wiltrout, Kimberly, Bassett, Anne S., Christodoulou, John, Dupuis, Lucie, Gill, Peter, Levy, Tess, Siper, Paige, Stark, Zornitza, Vorstman, Jacob A. S., Diskin, Catherine, Jewitt, Natalie, Baribeau, Danielle, Costain, Gregory

“…Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-driven ascertainment of novel genetic conditions. The degree to…”
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Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study by D'Gama, Alissa M, Mulhern, Sarah, Sheidley, Beth R, Boodhoo, Fadil, Buts, Sarah, Chandler, Natalie J, Cobb, Joanna, Curtis, Meredith, Higginbotham, Edward J, Holland, Jonathon, Khan, Tayyaba, Koh, Julia, Liang, Nicole S Y, McRae, Lyndsey, Nesbitt, Sarah E, Oby, Brandon T, Paternoster, Ben, Patton, Alistair, Rose, Graham, Scotchman, Elizabeth, Valentine, Rozalia, Wiltrout, Kimberly N, Hayeems, Robin Z, Jain, Puneet, Lunke, Sebastian, Marshall, Christian R, Rockowitz, Shira, Sebire, Neil J, Stark, Zornitza, White, Susan M, Chitty, Lyn S, Cross, J Helen, Scheffer, Ingrid E, Chau, Vann, Costain, Gregory, Poduri, Annapurna, Howell, Katherine B, McTague, Amy

“…Most neonatal and infantile-onset epilepsies have presumed genetic aetiologies, and early genetic diagnoses have the potential to inform clinical management…”
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