Expanding the spectrum of <i>EEF1D</i> neurodevelopmental disorders: Biallelic variants in the guanine exchange domain-Reference-Cited by-同舟云学术

Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain

Published:2023-01-02 Issue:4 Volume:103 Page:484-491
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Averdunk Luisa¹²^ORCID,Al‐Thihli Khalid³⁴,Surowy Harald¹,Lüdecke Hermann‐Josef¹,Drechsler Matthias¹,Yigit Gökhan⁵⁶^ORCID,Smorag Lukasz⁵,Al Hallak Bassam⁷,Li Yun⁵,Altmüller Janine⁸⁹,Guthoff Tanja¹⁰,Wallot Michael¹¹,Nürnberg Peter¹²¹³,Wollnik Bernd⁵⁶¹⁴,Jamra Rami Abou¹⁵,Al‐Maawali Almundher³⁴^ORCID,Wieczorek Dagmar¹

Affiliation:

1. Institute of Human Genetics Heinrich‐Heine‐University Düsseldorf, Medical Faculty Düsseldorf Germany

2. Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty University Hospital, Heinrich‐Heine‐University Düsseldorf Germany

3. Department of Genetics, College of Medicine and Health Sciences Sultan Qaboos University Muscat Oman

4. Genetic and Developmental Medicine Clinic Sultan Qaboos University Hospital Muscat Oman

5. Institute of Human Genetics University Medical Center Göttingen Göttingen Germany

6. DZHK (German Centre for Cardiovascular Research) Partner Site Göttingen, University Medical Center Göttingen Göttingen Germany

7. Practice for Pediatrics Kefrenbel Syria

8. Berlin Institute of Health at Charité Universitätsmedizin Berlin, Core Facility Genomics Berlin Germany

9. BIH/MDC Genomics Technology Platform Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC) Berlin Germany

10. Department of Ophthalmology, Medical Faculty Heinrich Heine University Düsseldorf Germany

11. Department of Pediatrics Bethanien Hospital Moers Germany

12. Cologne Center for Genomics (CCG) University of Cologne, Faculty of Medicine and University Hospital Cologne Cologne Germany

13. Center for Molecular Medicine Cologne (CMMC) University of Cologne, Faculty of Medicine and University Hospital Cologne Cologne Germany

14. Cluster of Excellence “Multiscale Bioimaging: From Molecular Machines to Networks of Excitable Cells” (MBExC) University of Göttingen Göttingen Germany

15. Institute of Human Genetics University of Leipzig Medical Center Leipzig Germany

Funder

Deutsche Forschungsgemeinschaft

Sultan Qaboos University

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14290

Reference11 articles.

1. The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders

2. Biological characterization of various forms of elongation factor 1 from rabbit reticulocytes

3. Phosphorylation of elongation factor 1 beta by an endogenous kinase affects its catalytic nucleotide exchange activity.

4. Transformation of eEF1Bδ into heat‐shock response transcription factor by alternative splicing

5. Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Autosomal recessive intellectual disability caused by compound heterozygous variants of the EEF1D gene in a Chinese family;Molecular Genetics & Genomic Medicine;2023-12-11