Delineating the expanding phenotype associated with SCAPER gene mutation-Reference-Cited by-同舟云学术

Delineating the expanding phenotype associated with SCAPER gene mutation

Published:2019-06-13 Issue:8 Volume:179 Page:1665-1671
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Fasham James¹²^ORCID,Arno Gavin³⁴^ORCID,Lin Siying¹^ORCID,Xu Mingchu⁵⁶,Carss Keren J.⁷⁸,Hull Sarah³⁴,Lane Amelia³,Robson Anthony G.³⁴,Wenger Olivia⁹,Self Jay E.¹⁰,Harlalka Gaurav V.¹,Salter Claire G.¹,Schema Lynn¹¹,Moss Timothy J.¹²,Cheetham Michael E.³,Moore Anthony T.³⁴¹³,Raymond F. Lucy⁸¹⁴,Chen Rui⁵⁶,Baple Emma L.¹²^ORCID,Webster Andrew R.³⁴^ORCID,Crosby Andrew H.¹,

Affiliation:

1. Medical Research, RILD Wellcome Wolfson Centre; University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust; Exeter United Kingdom

2. Peninsula Clinical Genetics Service; Royal Devon and Exeter Hospital (Heavitree); Exeter United Kingdom

3. UCL Institute of Ophthalmology; University College London; London United Kingdom

4. Moorfields Eye Hospital; London United Kingdom

5. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

6. Human Genome Sequencing Center; Baylor College of Medicine; Houston Texas

7. Department of Haematology; NHS Blood and Transplant Centre, University of Cambridge; Cambridge United Kingdom

8. NIHR BioResource - Rare Diseases; Cambridge University Hospitals NHS Foundation Trust; Cambridge United Kingdom

9. New Leaf Center; Clinic for Special Children; Mount Eaton Ohio

10. Clinical and Experimental Sciences, Faculty of Medicine; University of Southampton; Southampton United Kingdom

11. Division of Genetics and Metabolism; University of Minnesota Medical Center - Fairview; Minneapolis Minnesota

12. Division of Genetics and Metabolism, Department of Pediatrics; University of Minnesota; Minneapolis Minnesota

13. Ophthalmology Department, UCSF School of Medicine; Koret Vision Centre; San Francisco California

14. Department of Medical Genetics, Cambridge Institute for Medical Research; University of Cambridge; Cambridge United Kingdom

Funder

Fight for Sight UK

Foundation Fighting Blindness

Medical Research Council Canada

Moorfields Eye Charity

National Centre for the Replacement, Refinement and Reduction of Animals in Research

National Institute for Health Research

Newlife Foundation for Disabled Children

Retina UK

University of Exeter

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.61202/fullpdf

Reference14 articles.

1. Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease;Carss;American Journal of Human Genetics,2017

2. British 1990 growth reference centiles for weight, height, body mass index and head circumference fitted by maximum penalized likelihood;Cole;Statistics in Medicine,1998

3. Bardet-Biedl syndrome;Forsythe;European Journal of Human Genetics,2013

4. Genetics of intellectual disability in consanguineous families;Hu;Molecular Psychiatry,2018

5. SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa;Jauregui;American Journal of Medical Genetics. Part A,2019

Cited by 12 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

2. Enhanced Learning and Memory in Patients with CRB1 Retinopathy;Genes;2024-05-22

3. Soluble αβ-tubulins reversibly sequester TTC5 to regulate tubulin mRNA decay;2024-04-13

4. A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome;European Journal of Human Genetics;2023-10-11

5. Control of mRNA fate by its encoded nascent polypeptide;Molecular Cell;2023-08