Generation and Implementation of a Patient-Centered and Patient-Facing Genomic Test Report in the EHR

por Goehringer, Jessica M., Bonhag, Michele A., Jones, Laney K., Schmidlen, Tara, Schwartz, Marci, Rahm, Alanna Kulchak, Williams, Janet L., Williams, Marc S.
Publicado 2018

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts

por Mirshahi, Uyenlinh L, Colclough, Kevin, Wright, Caroline F, Wood, Andrew R, Beaumont, Robin N, Tyrrell, Jessica, Laver, Thomas W, Stahl, Richard, Golden, Alicia, Goehringer, Jessica M, Frayling, Timothy F, Hattersley, Andrew T, Carey, David J, Weedon, Michael N, Patel, Kashyap A
Publicado 2022

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores

por Boyden, Steven E., Mahoney, Lane J., Kawahara, Genri, Myers, Jennifer A., Mitsuhashi, Satomi, Estrella, Elicia A., Duncan, Anna R., Dey, Friederike, DeChene, Elizabeth T., Blasko-Goehringer, Jessica M., Bönnemann, Carsten G., Darras, Basil T., Mendell, Jerry R., Lidov, Hart G. W., Nishino, Ichizo, Beggs, Alan H., Kunkel, Louis M., Kang, Peter B.
Publicado 2012