Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions

por Birnie, Erwin, Schuurmans, Juliette, Plantinga, Mirjam, Abbott, Kristin M., Fenwick, Angela, Lucassen, Anneke, Berger, Marjolein Y., van Langen, Irene M., Ranchor, Adelita V.
Publicado 2021

Expanded carrier screening for autosomal recessive conditions in health care: Arguments for a couple‐based approach and examination of couples' views

por Plantinga, Mirjam, Birnie, Erwin, Schuurmans, Juliette, Buitenhuis, Anne H., Boersma, Elise, Lucassen, Anneke M., Verkerk, Marian A., van Langen, Irene M., Ranchor, Adelita V.
Publicado 2019

GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?

por Schuurmans, Juliette, Birnie, Erwin, Ranchor, Adelita V., Abbott, Kristin M., Fenwick, Angela, Lucassen, Anneke, Berger, Marjolein Y., Verkerk, Marian, van Langen, Irene M., Plantinga, Mirjam
Publicado 2019

Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases

por Plantinga, Mirjam, Birnie, Erwin, Abbott, Kristin M, Sinke, Richard J, Lucassen, Anneke M, Schuurmans, Juliette, Kaplan, Seyma, Verkerk, Marian A, Ranchor, Adelita V, van Langen, Irene M
Publicado 2016

Feasibility of couple-based expanded carrier screening offered by general practitioners

por Schuurmans, Juliette, Birnie, Erwin, van den Heuvel, Lieke M., Plantinga, Mirjam, Lucassen, Anneke, van der Kolk, Dorina M., Abbott, Kristin M., Ranchor, Adelita V., Diemers, Agnes D., van Langen, Irene M.
Publicado 2019

High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

por Douben, Hannie C. W., Nellist, Mark, van Unen, Leontine, Elfferich, Peter, Kasteleijn, Esmee, Hoogeveen‐Westerveld, Marianne, Louwen, Jesse, van Veghel‐Plandsoen, Monique, de Valk, Walter, Saris, Jasper J., Hendriks, Femke, Korpershoek, Esther, Hoefsloot, Lies H., van Vliet, Margreethe, van Bever, Yolande, van de Laar, Ingrid, Aten, Emmelien, Lachmeijer, Augusta M. A., Taal, Walter, van den Bersselaar, Lisa, Schuurmans, Juliette, Oostenbrink, Rianne, van Minkelen, Rick, van Ierland, Yvette, van Ham, Tjakko J.
Publicado 2022