De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability-Reference-Cited by-同舟云学术

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

Published:2019-02-07 Issue:4 Volume:179 Page:570-578
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Nicola Pantelis¹²^ORCID,Blackburn Patrick R.³⁴⁵^ORCID,Rasmussen Kristen J.⁵^ORCID,Bertsch Nicole L.⁶,Klee Eric W.³⁴⁵⁶,Hasadsri Linda⁵,Pichurin Pavel N.⁶,Rankin Julia⁷,Raymond F. Lucy⁸,Clayton-Smith Jill²⁹,

Affiliation:

1. University Hospital of South Manchester NHS Foundation Trust; Manchester United Kingdom

2. Manchester Centre for Genomic Medicine; Manchester United Kingdom

3. Center for Individualized Medicine; Mayo Clinic; Rochester Minnesota

4. Department of Health Sciences Research; Mayo Clinic; Rochester Minnesota

5. Department of Laboratory Medicine and Pathology; Mayo Clinic; Rochester Minnesota

6. Department of Clinical Genomics; Mayo Clinic; Rochester Minnesota

7. Clinical Genetics Department, Royal Devon and Exeter NHS Foundation Trust; Exeter United Kingdom

8. Cambridge Institute for Medical Research; University of Cambridge; Cambridge United Kingdom

9. Division of Evolution and Genomic Sciences, School of Biological Sciences; University of Manchester; Manchester United Kingdom

Funder

Health Innovation Challenge Fund

Wellcome Trust

Mayo Clinic

National Institute for Health Research

Department of Health, Australian Government

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.61061/fullpdf

Reference17 articles.

1. RNA helicases: Regulators of differentiation;Abdelhaleem;Clinical Biochemistry,2005

2. PredictSNP2: A unified platform for accurately evaluating SNP effects by exploiting the different characteristics of variants in distinct genomic regions;Bendl;PLoS Computational Biology,2016

3. Targeted inactivation of murine Ddx3x: Essential roles of Ddx3x in placentation and embryogenesis;Chen;Human Molecular Genetics,2016

4. Large-scale discovery of novel genetic causes of developmental disorders;Deciphering Developmental Disorders Study;Nature,2015

5. DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome;Dikow;American Journal of Medical Genetics. Part A,2017

Cited by 42 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. Post-transcriptional cross- and auto-regulation buffer expression of the human RNA helicasesDDX3XandDDX3Y;2024-07-10

2. Sex chromosome complement interacts with gonadal hormones in determining regional-specific neuroactive steroid levels in plasma, hippocampus, and hypothalamus. A study using the four core genotype mouse model;The Journal of Steroid Biochemistry and Molecular Biology;2024-07

3. Speech and language in DDX3X‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention;American Journal of Medical Genetics Part B: Neuropsychiatric Genetics;2024-02-29

4. A comprehensive review on DDX3X liquid phase condensation in health and neurodevelopmental disorders;International Journal of Biological Macromolecules;2024-02

5. Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders;Molecular Genetics & Genomic Medicine;2024-01