Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?

por Harris, Jacqueline R., Gao, Christine W., Britton, Jacquelyn F., Applegate, Carolyn D., Bjornsson, Hans T., Fahrner, Jill A.
Publicado 2023

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem

por Forsyth, RaeLynn, Peretz, Ryan H., Dempsey, Angela, Britton, Jacquelyn, Kratz, Lisa, Hamosh, Ada, Vernon, Hilary, Batshaw, Mark L., Valle, David
Publicado 2023

Genome‐wide DNA methylation profiling confirms a case of low‐level mosaic Kabuki syndrome 1

por Montano, Carolina, Britton, Jacquelyn F., Harris, Jacqueline R., Kerkhof, Jennifer, Barnes, Benjamin T., Lee, Jennifer A., Sadikovic, Bekim, Sobreira, Nara, Fahrner, Jill A.
Publicado 2022