Karin E M Diderich (K E M Diderich, Karin Diderich)

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 17

Top Topics

Intellectual Disability

Top Venues

Prenatal diagnosis

Clinical genetics

The application of clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Geerke M Eggenhuizen, Attie T J I Go, Zoë Sauter, Mariëtte J V Hoffer, Monique C Haak, Geert Geeven, Karin E M Diderich, Marieke Joosten, Myrthe van den Born, Malgorzata Ilona Srebniak, Diane Van Opstal
The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study. Prenatal diagnosis 44 (3) (2024)
Geerke M Eggenhuizen, Attie T J I Go, Zoë Sauter, Mariëtte J V Hoffer, Monique C Haak, Geert Geeven, Karin E M Diderich, Marieke Joosten, Myrthe van den Born, Malgorzata Ilona Srebniak, Diane Van Opstal
The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study. Prenatal diagnosis 44 (3) (2024)
Rachel Schot, Federico Ferraro, Geert Geeven, Karin E M Diderich, Tahsin Stefan Barakat
Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder. Clinical genetics 106 (4) (2024)
Geerke M Eggenhuizen, Attie T J I Go, Zoë Sauter, Mariëtte J V Hoffer, Monique C Haak, Geert Geeven, Karin E M Diderich, Marieke Joosten, Myrthe van den Born, Malgorzata Ilona Srebniak, Diane Van Opstal
The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study. Prenatal diagnosis (2024)
K Reilly, S Sonner, N McCay, D L Rolnik, F Casey, A N Seale, C J Watson, A Kan, T H T Lai, B H Y Chung, Karin E M Diderich, Malgorzata Ilona Srebniak, E Dempsey, S Drury, J Giordano, Ronald J Wapner, M D Kilby, Lyn S Chitty, Fionnuala Mone
The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis. Prenatal diagnosis 44 (6-7) (2024)
Katinka Weller, Dineke Westra, Nina C J Peters, Martina Wilke, Diane Van Opstal, Ilse Feenstra, Joris van Drongelen, Alex J Eggink, Karin E M Diderich, Philip L J DeKoninck
Exome sequencing in fetuses with congenital diaphragmatic hernia in a nationwide cohort. Prenatal diagnosis (2024)
K Reilly, S Sonner, N McCay, D L Rolnik, F Casey, A N Seale, C J Watson, A Kan, T H T Lai, B H Y Chung, Karin E M Diderich, Malgorzata Ilona Srebniak, E Dempsey, S Drury, J Giordano, Ronald J Wapner, M D Kilby, Lyn S Chitty, Fionnuala Mone
The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis. Prenatal diagnosis 44 (6-7) (2024)
Rachel Schot, Federico Ferraro, Geert Geeven, Karin E M Diderich, Tahsin Stefan Barakat
Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder. Clinical genetics (2024)
K Reilly, S Sonner, N McCay, D L Rolnik, F Casey, A N Seale, C J Watson, A Kan, T H T Lai, B H Y Chung, Karin E M Diderich, Malgorzata Ilona Srebniak, E Dempsey, S Drury, J Giordano, Ronald J Wapner, M D Kilby, Lyn S Chitty, Fionnuala Mone
The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis. Prenatal diagnosis (2024)
Geerke M Eggenhuizen, Attie T J I Go, Zoë Sauter, Mariëtte J V Hoffer, Monique C Haak, Geert Geeven, Karin E M Diderich, Marieke Joosten, Myrthe van den Born, Malgorzata Ilona Srebniak, Diane Van Opstal
The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study. Prenatal diagnosis 44 (3) (2024)
Stephany H Donze, Malgorzata Ilona Srebniak, Karin E M Diderich, Myrthe van den Born, Robert-Jan Galjaard, Lutgarde C P Govaerts, Vyne van der Schoot, Maarten F C M Knapen, Marieke Joosten, Diane Van Opstal
Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results. Prenatal diagnosis (2023)
Karin E M Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, Hennie T Brüggenwirth, Marieke Joosten, Malgorzata Ilona Srebniak
Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing. The application of clinical genetics 16 (2023)
Stephany H Donze, Malgorzata Ilona Srebniak, Karin E M Diderich, Myrthe van den Born, Robert-Jan Galjaard, Lutgarde C P Govaerts, Vyne van der Schoot, Maarten F C M Knapen, Marieke Joosten, Diane Van Opstal
Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results. Prenatal diagnosis 44 (4) (2023)
Stephany H Donze, Malgorzata Ilona Srebniak, Karin E M Diderich, Myrthe van den Born, Robert-Jan Galjaard, Lutgarde C P Govaerts, Vyne van der Schoot, Maarten F C M Knapen, Marieke Joosten, Diane Van Opstal
Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results. Prenatal diagnosis 44 (4) (2023)
Gillian V Blayney, Eoghan Laffan, Preethi A Jacob, Caitlin D Baptiste, Heinz Gabriel, Teresa N Sparks, Yuval Yaron, Mary E Norton, Karin E M Diderich, Yiming Wang, Karen Chong, David Chitayat, Neelam Saini, Shagun Aggarwal, Montse Pauta, Antoni Borrell, Kelly Gilmore, Natalie Jane Chandler, Stephanie K Allen, Neeta L Vora, Abdul Noor, Caitriona Monaghan, Mark David Kilby, Ronald J Wapner, Lyn S Chitty, Fionnuala Mone
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis. Prenatal diagnosis (2023)
Stephany H Donze, Malgorzata Ilona Srebniak, Karin E M Diderich, Myrthe van den Born, Robert-Jan Galjaard, Lutgarde C P Govaerts, Vyne van der Schoot, Maarten F C M Knapen, Marieke Joosten, Diane Van Opstal
Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results. Prenatal diagnosis 44 (4) (2023)
Yolande van Bever, Irene A L Groenenberg, Maarten F C M Knapen, Arianne B Dessens, Sabine E Hannema, Katja P Wolffenbuttel, Karin E M Diderich, Lies H Hoefsloot, Malgorzata Ilona Srebniak, Hennie T Bruggenwirth
Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes. Prenatal diagnosis (2022)