Search Results - Liang, Nicole Si Yan

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  1. 1
    After genomic testing results: Parents’ long‐term views

    After genomic testing results: Parents’ long‐term views by Liang, Nicole Si Yan, Adam, Shelin, Elliott, Alison M., Siemens, Angela, Souich, Christèle, Friedman, Jan M., Birch, Patricia

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  2. 2
    P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes

    P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes by Groopman, Emily, Goldstein, Jenny, Thomas-Wilson, Amanda, Reich, Daniel, Kyle, Emily, Aggarwal, Vimla, Preston, Christine, Hart, Kim, Si Yan Liang, Nicole, Young, Sarah, Bianconi, Simona, Longo, Nicola, Wallis, Heidi, Mercimek-Andrews, Saadet

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  3. 3
    P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study

    P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study by Yan Liang, Nicole Si, Costain, Gregory, D'Gama, Alissa, McTague, Amy, Howell, Katherine, Chau, Vann, Mulhern, Sarah, Poduri, Annapurna, Scheffer, Ingrid, Sheidley, Beth, Curtis, Meredith, Higginbotham, Edward, Khan, Tayyaba, McRae, Lyndsey, Wiltrout, Kimberly, Hayeems, Robin, Jain, Puneet, Lunke, Sebastian, Marshall, Christian, Chitty, Lyn, Rockowitz, Shira, Stark, Zornitza, White, Susan

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  4. 4
    P249: Gaps in the phenotype descriptions of ultra-rare genetic conditions: Review and multi-center consensus reporting guidelines

    P249: Gaps in the phenotype descriptions of ultra-rare genetic conditions: Review and multi-center consensus reporting guidelines by AlMail, Ali, Jamjoom, Ahmed, Pan, Amy, Feng, Anna, Chau, Vann, D'Gama, Alissa, Howell, Katherine, Yan Liang, Nicole Si, McTague, Amy, Poduri, Annapurna, Wiltrout, Kimberly, Bassett, Anne, Christodoulou, John, Dupuis, Lucie, Gill, Peter, Levy, Tess, Siper, Paige, Stark, Zornitza, Vorstman, Jacob, Diskin, Catherine, Jewitt, Natalie, Baribeau, Danielle, Costain, Gregory

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