Syndromic neurodevelopmental disorder associated with de novo variants in DDX23-Reference-Cited by-同舟云学术

Syndromic neurodevelopmental disorder associated with de novo variants in DDX23

Published:2021-05-29 Issue:10 Volume:185 Page:2863-2872
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Burns William¹^ORCID,Bird Lynne M.²³,Heron Delphine⁴,Keren Boris⁴,Ramachandra Divya⁵,Thiffault Isabelle⁶⁷^ORCID,Del Viso Florencia⁶,Amudhavalli Shivarajan⁸,Engleman Kendra⁸,Parenti Ilaria⁹,Kaiser Frank J.⁹,Wierzba Jolanta¹⁰,Riedhammer Korbinian M.¹¹¹²^ORCID,Liptay Susanne¹³,Zadeh Neda¹⁴¹⁵,Porrmann Joseph¹⁶,Fischer Andrea¹⁶,Gößwein Sophie¹⁶,McLaughlin Heather M.¹⁷,Telegrafi Aida¹⁸,Langley Katherine G.¹⁸,Steet Richard¹,Louie Raymond J.¹^ORCID,Lyons Michael J.¹

Affiliation:

1. Greenwood Genetic Center Greenwood South Carolina USA

2. San Diego – Department of Pediatrics University of California San Diego California USA

3. Division of Genetics/Dysmorphology Rady Children's Hospital San Diego San Diego California USA

4. Département de Génétique Pitié‐Salpêtrière Hospital, APHP.Sorbonne Université Paris France

5. Division of Genetics Advocate Hope Children's Hospital Oak Lawn Illinois USA

6. Center for Pediatric Genomic Medicine Children's Mercy Hospital Kansas City Missouri USA

7. University of Missouri–Kansas City School of Medicine Kansas City Missouri USA

8. Department of Pediatics Children's Mercy Hospital Kansas City Missouri USA

9. Institut für Humangenetik Universitätsklinikum Essen, Universität Duisburg‐Essen Essen Germany

10. Department of Pediatric and Internal Medicine Nursing Medical University of Gdańsk Poland

11. Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine Technical University of Munich Munich Germany

12. Department of Nephrology, Klinikum rechts der Isar, School of Medicine Technical University of Munich Munich Germany

13. Department of Pediatrics, Kinderklinik München Schwabing, School of Medicine Technical University of Munich Munich Germany

14. Genetics Center Orange California USA

15. Division of Medical Genetics CHOC Children's Hospital Orange California USA

16. Faculty of Medicine Carl Gustav Carus, TU Dresden, Fetscherstr. 74 Institute for Clinical Genetics Dresden Germany

17. Invitae Corporation San Francisco California USA

18. GeneDx Gaithersburg Maryland USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62359

Reference28 articles.

1. A missense mutation in the splicing factor geneDHX38is associated with early-onset retinitis pigmentosa with macular coloboma

2. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

3. The Long Unwinding Road of RNA Helicases

4. The multiple functions of RNA helicases as drivers and regulators of gene expression

5. Adenoid cystic carcinoma: current therapy and potential therapeutic advances based on genomic profiling

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