EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder-Reference-Cited by-同舟云学术

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

Published:2021-07 Issue:4 Volume:100 Page:396-404
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Lévy Jonathan¹^ORCID,Schell Bérénice¹,Nasser Hala¹,Rachid Myriam¹,Ruaud Lyse¹²³^ORCID,Couque Nathalie¹^ORCID,Callier Patrick⁴⁵⁶,Faivre Laurence⁴⁶,Marle Nathalie⁵⁶,Engwerda Aafke⁷,Ravenswaaij‐Arts Conny M. A.⁷,Plutino Morgane⁸,Karmous‐Benailly Houda⁸,Benech Caroline⁹,Redon Sylvia¹⁰,Boute Odile¹¹,Boudry Labis Elise¹²,Rama Mélanie¹²,Kuentz Paul⁶¹³,Assoumani Jessica¹⁴,Maldergem Lionel Van¹⁴¹⁵,Dupont Céline¹,Verloes Alain¹²³^ORCID,Tabet Anne‐Claude¹¹⁶^ORCID

Affiliation:

1. Genetics Department APHP, Robert‐Debré University Hospital Paris France

2. Université de Paris Medical School Paris France

3. INSERM UMR1141, Paris University, APHP, Robert‐Debré Hospital Paris France

4. Centre de Génétique et Centre de référence “Anomalies du Développement et Syndromes Malformatifs” Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon Dijon France

5. Laboratoire de Génétique Chromosomique et Moléculaire Plateau Technique de Biologie, Centre Hospitalier Universitaire de Dijon Dijon France

6. UMR‐Inserm 1231 GAD Team, Génétique des Anomalies du développement Université de Bourgogne Franche‐Comté Dijon France

7. Department of Genetics University of Groningen, University Medical Centre Groningen Groningen The Netherlands

8. Service de Génétique Médicale Centre Hospitalier Universitaire de Nice Nice France

9. Etablissement Français du Sang Brest France

10. Laboratoire de Génétique Moléculaire et Histocompatibilité Service de Génétique Médicale, CHRU Brest France

11. CHU Lille, Clinique de Génétique “Guy Fontaine” Lille France

12. CHU Lille, Institut de Génétique Médicale Lille France

13. Génétique Biologique PCBio, Centre Hospitalier Universitaire de Besançon Besançon France

14. Clinical Investigation Center 1431, INSERM Besançon France

15. Center of Human Genetics University of Franche‐Comté Besançon France

16. Neuroscience Department Human Genetics and Cognitive Function Unit, Pasteur Institute Paris France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14017

Reference15 articles.

1. Ectodomain structures of Eph receptors

2. Eph-ephrin signaling in nervous system development

3. Mechanisms of ephrin–Eph signalling in development, physiology and disease

4. A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation

5. EFNB2haploinsufficiency causes a syndromic neurodevelopmental disorder

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