Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

Author:

Deden Chantal12,Neveling Kornelia1,Zafeiropopoulou Dimitra3,Gilissen Christian3,Pfundt Rolph4,Rinne Tuula4,Leeuw Nicole4,Faas Brigitte1,Gardeitchik Thatjana3,Sallevelt Suzanne C. E. H.5,Paulussen Aimee5,Stevens Servi J. C.5,Sikkel Esther6,Elting Mariet W.7,Maarle Merel C.8,Diderich Karin E. M.9,Corsten‐Janssen Nicole2ORCID,Lichtenbelt Klaske D.10,Lachmeijer Guus10,Vissers Lisenka E. L. M.4,Yntema Helger G.4,Nelen Marcel1,Feenstra Ilse1,Zelst‐Stams Wendy A. G.1ORCID

Affiliation:

1. Department of Human GeneticsRadboud University Medical Center, Radboud Institute for Health Sciences Nijmegen The Netherlands

2. Department of Genetics, University Medical Center GroningenUniversity of Groningen Groningen The Netherlands

3. Department of Human GeneticsRadboud University Medical Center, Radboud Institute for Molecular Life Sciences Nijmegen The Netherlands

4. Department of Human Genetics, Donders Institute for Brain, Cognition, and BehaviourRadboud University Medical Center Nijmegen Netherlands

5. Department of Clinical GeneticsMaastricht University Medical Center Maastricht The Netherlands

6. Department of Obstetrics and GynecologyRadboud University Medical Centre Nijmegen The Netherlands

7. Department of Clinical GeneticsAMsterdam UMC, Vrije Universiteit Amsterdam Amsterdam The Netherlands

8. Department of Clinical GeneticsAMsterdam UMC, University of Amsterdam Amsterdam The Netherlands

9. Department of Clinical GeneticsErasmus University Medical Center Rotterdam Rotterdam The Netherlands

10. Department of GeneticsUtrecht University Medical Center Utrecht The Netherlands

Funder

ZonMw

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

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