P460: Gene- and variant-specific calibration of in silico predictive models results in reclassification of 28% of missense VUS from ClinGen VCEPs

by Shawn Fayer, Malvika Tejura, Abbye McEwen, Lea Starita, Douglas Fowler
Published 2023-01-01

Dynamics of response to asynapsis and meiotic silencing in spermatocytes from Robertsonian translocation carriers.

by Anna K Naumova, Shawn Fayer, Jacky Leung, Kingsley A Boateng, R Daniel Camerini-Otero, Teruko Taketo
Published 2013-01-01

P390: Assessing and addressing the burden of VUSs within adult medical genetics practices

by Andrew Stergachis, Andrew Folta, Adriana Sedeno-Cortes, Merin Jose, Martha Horike-Pyne, Abbye McEwen, Shawn Fayer, Lea Starita, Marianne Dubard-Gault, Fuki Hisama
Published 2024-01-01

O01: Using multiplexed functional data to reduce the VUS burden in populations underrepresented in genomic medicine

by Moez Dawood, Shawn Fayer, Mason Post, Divya Kalra, Karynne Patterson, Eric Venner, Lara Muffley, Douglas Fowler, Alan Rubin, Richard Gibbs, Lea Starita, Carla Daniela Robles-Espinoza, Willow Coyote-Maestas, Irene Gallego Romero
Published 2024-01-01

P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*

by Shruthi Mohan, Renee Geck, Shawn Fayer, Roseann Donnelly, Mary Relling, Tom Vulliamy, Kelly Caudle, Amber Waddell, Essence Kendall, Gonzalo Domingo, Angelo Minucci, Benedikt Ley, Cindy Chu, Cyrine Haidar, Howard McLeod, Josef Prchal, Mahmoud Sirdah, Vimla Aggarwal, Weiying Jiang, Emily Kyle, Meredith Weaver, Michelle Whirl-Carrillo, Andrew Stergachis
Published 2024-01-01

The BabySeq project: implementing genomic sequencing in newborns

by Ingrid A. Holm, Pankaj B. Agrawal, Ozge Ceyhan-Birsoy, Kurt D. Christensen, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Joel B. Krier, Rebecca C. LaMay, Harvey L. Levy, Amy L. McGuire, Richard B. Parad, Peter J. Park, Stacey Pereira, Heidi L. Rehm, Talia S. Schwartz, Susan E. Waisbren, Timothy W. Yu, The BabySeq Project Team, Robert C. Green, Alan H. Beggs
Published 2018-07-01