Exome sequencing identifies the first genetic determinants of sirenomelia in humans-Reference-Cited by-同舟云学术

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

Published:2020-03 Issue:5 Volume:41 Page:926-933
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Lecoquierre François¹,Brehin Anne‐Claire¹²,Coutant Sophie¹,Coursimault Juliette¹,Bazin Anne³,Finck Wilfrid⁴,Benoist Guillaume⁵,Begorre Marianne⁶,Beneteau Claire⁷,Cailliez Daniel⁸,Chenal Pierre⁸,De Jong Mirjam⁹,Degré Sophie¹⁰,Devisme Louise¹¹,Francannet Christine¹²¹³,Gérard Bénédicte¹⁴,Jeanne Corinne¹⁵,Joubert Madeleine¹⁶,Journel Hubert¹⁷,Laurichesse Delmas Hélène¹³¹⁸,Layet Valérie¹⁹,Liquier Alain²⁰,Mangione Raphaele²¹,Patrier Sophie²,Pelluard Fanny²²²³,Petit Florence²⁴^ORCID,Tillouche Nadia²⁵,Ravenswaaij‐Arts Conny⁹,Frebourg Thierry¹,Saugier‐Veber Pascale¹,Gruchy Nicolas²⁶,Nicolas Gaël¹^ORCID,Gerard Marion²⁶

Affiliation:

1. Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie UnivUNIROUENInserm U1245 and Rouen University Hospital Rouen France

2. Department of FoetopathologyCHU Rouen Rouen France

3. Département de Génétique et de Biologie SpécialiséeLaboratoire Cerba Saint Ouen l'Aumone France

4. Unité de Foetopathologie, Laboratoire d'anatomie et cytologie pathologiqueCHU Clermont Ferrand Clermont‐Ferrand France

5. Service de gynécologie‐obstétrique et médecine de la reproductionCentre Hospitalier Universitaire de Caen, Universite de Caen Normandie Caen Basse‐Normandie France

6. Department of ObstetricsCHU Côte de Nacre Caen France

7. Department of Clinical geneticsCHU Hôpital mère et enfant Nantes France

8. Department of FoetopathologyHopital Monod Le Havre France

9. Department of GeneticsUniversity Medical Centre Groningen, University of Groningen Groningen The Netherlands

10. CPDPNHopital Monod Le Havre France

11. Institut de PathologieCHU Lille Lille France

12. Centre de référence des anomalies malformatives, Service de génétique médicaleCHU Clermont‐Ferrand Clermont‐Ferrand France

13. Centre d'Etude des Malformations Congénitales, CEMC‐AuvergneCHU Clermont‐Ferrand Clermont‐Ferrand France

14. Department of GeneticsCHU de Strasbourg, Hôpital CivilStrasbourg France

15. Department of Foetopathology, Centre François BaclesseCHU Côte de NacreCaen France

16. Department of FoetopathologyCHU Hôtel DieuNantes France

17. Department of Clinical ge neticsCH VannesVannes France

18. Unité de Médecine Fœtale, Service de gynécologie‐obstétriqueCHU Clermont‐FerrandClermont‐Ferrand France

19. Department of Clinical GeneticsHopital MonodLe Havre France

20. CPDPNHôpital BagatelleTalence France

21. Departement of RadiologyPolyclinique Bordeaux Nord‐AquitaineBordeaux France

22. Service d'Anatomie‐Cytologie PathologiqueCentre Hospitalier Universitaire de BordeauxBordeaux France

23. INSERM UMR1053, Bordeaux Research in Translational Oncology, BaRITOnUniversité de Bordeaux Bordeaux France

24. Clinique de Génétique “Guy Fontaine”—Centre de référence CLAD, Hôpital Jeanne de FlandreCHU LilleLille France

25. Pôle Femme‐Mère‐Nouveau‐néCentre Hospitalier de ValenciennesValenciennes France

26. Department of Genetics, Normandy Center for Genomic and Personalized MedicineCaen University HospitalCaen France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23998

Reference38 articles.

1. Nkd1 Functions as a Passive Antagonist of Wnt Signaling

2. CANOES: detecting rare copy number variants from whole exome sequencing data

3. Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies

4. ECLAMC: The Latin-American Collaborative Study of Congenital Malformations

5. Sirenomelia and VACTERL association in the offspring of a woman with diabetes

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