Bi-allelic <i>FRA10AC1</i> variants in a multisystem human syndrome-Reference-Cited by-同舟云学术

Bi-allelic FRA10AC1 variants in a multisystem human syndrome

Published:2022-07-24 Issue:10 Volume:145 Page:e86-e89
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Banka Siddharth¹²^ORCID,Shalev Stavit³,Park Soo-Mi⁴,Wood Katherine A¹²,Thomas Huw B¹,Wright Helen L⁵,Alyahya Mohammed¹⁶⁷,Bankier Sean¹,Alimi Ola³,Chervinsky Elena³,Zeef Leo A H⁸,O’Keefe Raymond T¹

Affiliation:

1. Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester , Manchester , UK

2. Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust , Manchester , UK

3. The Genetics Institute, Emek Medical Center, Afula, Rappaport Faculty of Medicine, Technion , Haifa , Israel

4. Department of Clinical Genetics, Addenbrooke’s Treatment Centre, Cambridge University Hospitals NHS Foundation Trust , Cambridge , UK

5. Institute of Life Course and Medical Sciences, University of Liverpool , Liverpool , UK

6. Department of Health support services, Ministry of Health , Saudi Arabia

7. Wadi General Hospital, Ministry of Health , Saudi Arabia

8. Bioinformatics Core Facility, The Faculty of Medicine and Health, University of Manchester , Manchester , UK

Funder

Versus Arthritis Career Development Fellowship

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awac262/45212224/awac262.pdf

Reference10 articles.

1. Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation;von Elsner;Brain,2022

2. How genetically heterogeneous is Kabuki syndrome? : MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum;Banka;Eur J Hum Genet,2012

3. Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2;Faundes;Genet Med,2021

4. Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency;Banka;Am J Hum Genet,2011

5. Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine;Faundes;Nat Commun,2021

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1. Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions;Emerging Topics in Life Sciences;2023-09-28

2. Reconstruction of a Comprehensive Interactome and Experimental Data Analysis of FRA10AC1 May Provide Insights into Its Biological Role in Health and Disease;Genes;2023-02-24