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A discussion of, "De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features" with Xueyang Pan, PhD and hosts, Martin Breuss, PhD and Noha Sharafeldin, MBBCh, MSc, PhD.
A discussion of, "MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric" with Quan Sun and host, Noha Sharafeldin, MBBCh, MSc, PhD.
A discussion of, "Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia" with Boxun Zhao and hosts, Martin Breuss, PhD and Noha Sharafeldin, MBBCh, MSc, PhD.
A discussion of, "Genetic effects on the skin methylome in healthy older twins" with Christopher Shores, MSci and host, Noha Sharafeldin, MBBCh, MSc, PhD.
A discussion of, "Structural and genetic diversity in the secreted mucins MUC5AC and MUC5B" with Elizabeth Plender, BS/BA and host, Noha Sharafeldin, MBBCh, MSc, PhD.
A discussion of "A novel multivariable Mendelian randomization framework to disentangle highly correlated exposures with application to metabolomics" with Lap Sum Chan, MS and host, Noha Sharafeldin, MBBCh, MSc, PhD.
In this episode, Andrew Marderstein, PhD, co-chair of ASHG's Career Development Committee, interviews Christina Vallianatos, PhD, a member of ASHG's Public Education & Awareness Committee. She shares her experiences with DNA Day, volunteering as a judge for ASHG's DNA Day essay contest, and more.
Samuel Smith, PhD sits down with Career Development Committee member, Elham Ghorbanpour, MS to discuss his 2022 AJHG Award for Outstanding Trainee Publication and more.
Shawn Fayer, PhD sits down with Career Development Committee member, Elham Ghorbanpour, MS to discuss his 2022 AJHG Award for Outstanding Trainee Publication and more.
Hosts, Andrew Marderstein and Lucia Hindorff, chat with Kritika Singh on her work, "Integrative genomic analyses identify susceptibility genes underlying COVID-19 hospitalization" and more. Check out the written interview by visiting the ASHG website.
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