Expanding the genotype–phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy-Reference-Cited by-同舟云学术

Expanding the genotype–phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy

Published:2020-01-11 Issue:4 Volume:182 Page:713-720
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Kanani Farah¹^ORCID,Titheradge Hannah²,Cooper Nicola²,Elmslie Frances³,Lees Melissa M.⁴,Juusola Jane⁵,Pisani Laura⁶,McKenna Carolyn⁶,Mignot Cyril⁷,Valence Stephanie⁸,Keren Boris⁹,Lachlan Katherine¹⁰,Balasubramanian Meena¹¹¹,

Affiliation:

1. Sheffield Clinical Genetics ServiceSheffield Children's NHS Foundation Trust Sheffield UK

2. Clinical GeneticsBirmingham Women's and Children's NHS Foundation Trust Birmingham UK

3. South West Thames Regional Genetics ServiceSt George's, University of London UK

4. North East Regional Genetics ServiceGreat Ormond Street Hospital London UK

5. Clinical Genomics and Research Programs Gaithersburg Maryland

6. Human Genetics & Genomics, Northwell Health System New York USA

7. Assistance Publique–Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes RaresGroupe Hospitalier Pitié‐Salpêtrière France

8. Assistance Publique–Hôpitaux de Paris, Service de NeuropédiatrieHôpital Armand Trousseau

9. Département de génétique, hôpital Pitié‐SalpêtrièreAssistance publique‐Hôpitaux de Paris France

10. Wessex Clinical Genetics Service, Princess Anne Hospital Southampton UK

11. Academic Unit of Child HealthUniversity of Sheffield Sheffield UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61483

Reference11 articles.

1. The role of the 14-3-3 protein family in health, disease, and drug development