Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

por El Mecky, Julia, Johansson, Lennart, Plantinga, Mirjam, Fenwick, Angela, Lucassen, Anneke, Dijkhuizen, Trijnie, van der Hout, Annemieke, Lyle, Kate, van Langen, Irene
Publicado 2019

Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy

por Plantinga, Mirjam, Zwienenberg, Lauren, van Dijk, Eva, Breet, Hanna, Diphoorn, Janouk, El  Mecky, Julia, Bouman, Katelijne, Verheij, Joke, Birnie, Erwin, Ranchor, Adelita V., Corsten‐Janssen, Nicole, van Langen, Irene M.
Publicado 2021

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

por Corsten‐Janssen, Nicole, Bouman, Katelijne, Diphoorn, Janouk C. D., Scheper, Arjen J., Kinds, Rianne, el Mecky, Julia, Breet, Hanna, Verheij, Joke B. G. M., Suijkerbuijk, Ron, Duin, Leonie K., Manten, Gwendolyn T. R., van Langen, Irene M., Sijmons, Rolf H., Sikkema‐Raddatz, Birgit, Westers, Helga, van Diemen, Cleo C.
Publicado 2020