Assigning credit where it’s due: An information content score to capture the clinical value of Multiplexed Assays of Variant Effect

por Ranola, John Michael O, Horton, Carrie, Pesaran, Tina, Fayer, Shawn, Starita, Lea M., Shirts, Brian H
Publicado 2023

Dynamics of Response to Asynapsis and Meiotic Silencing in Spermatocytes from Robertsonian Translocation Carriers

por Naumova, Anna K., Fayer, Shawn, Leung, Jacky, Boateng, Kingsley A., Camerini-Otero, R. Daniel, Taketo, Teruko
Publicado 2013

Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report

por Murry, Jaclyn B., Machini, Kalotina, Ceyhan-Birsoy, Ozge, Kritzer, Amy, Krier, Joel B., Lebo, Matthew S., Fayer, Shawn, Genetti, Casie A., VanNoy, Grace E., Yu, Timothy W., Agrawal, Pankaj B., Parad, Richard B., Holm, Ingrid A., McGuire, Amy L., Green, Robert C., Beggs, Alan H., Rehm, Heidi L.
Publicado 2018

Parental Interest in Genomic Sequencing of Newborns: Enrollment Experience from the BabySeq Project

por Genetti, Casie A., Schwartz, Talia S., Robinson, Jill O., VanNoy, Grace E., Petersen, Devan, Pereira, Stacey, Fayer, Shawn, Peoples, Hayley A., Agrawal, Pankaj B., Betting, Wendi N., Holm, Ingrid A., McGuire, Amy L., Waisbren, Susan E., Yu, Timothy W., Green, Robert C., Beggs, Alan H., Parad, Richard B.
Publicado 2018

The BabySeq project: implementing genomic sequencing in newborns

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