Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy-Reference-Cited by-同舟云学术

Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

Published:2022-06-23 Issue:8 Volume:9 Page:1302-1309
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Bruels Christine C.¹^ORCID,Littel Hannah R.¹,Daugherty Audrey L.¹,Stafki Seth¹,Estrella Elicia A.²³,McGaughy Emily S.⁴,Truong Don¹,Badalamenti Jonathan P.⁵,Pais Lynn³⁶⁷,Ganesh Vijay S.³⁶⁷⁸,O'Donnell‐Luria Anne³⁶⁷,Stalker Heather J.⁹,Wang Yang¹⁰,Collins Christin¹⁰,Behlmann Andrea¹⁰,Lemmers Richard J. L. F.¹¹,van der Maarel Silvère M.¹¹,Laine Regina²,Ghosh Partha S.²,Darras Basil T.²^ORCID,Zingariello Carla D.⁴,Pacak Christina A.¹,Kunkel Louis M.³,Kang Peter B.¹¹²^ORCID

Affiliation:

1. Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology University of Minnesota Medical School Minneapolis Minnesota 55455

2. Department of Neurology Boston Children's Hospital Boston Massachusetts

3. Division of Genetics and Genomics Boston Children's Hospital Boston Massachusetts

4. Division of Pediatric Neurology, Department of Pediatrics University of Florida College of Medicine Gainesville Florida 32610

5. University of Minnesota Genomics Center University of Minnesota Minneapolis Minnesota 55455

6. Program in Medical and Population Genetics, Center for Mendelian Genomics Broad Institute of MIT and Harvard Cambridge Massachusetts

7. Analytic and Translational Genetics Unit and Center for Genomic Medicine Massachusetts General Hospital Boston Massachusetts

8. Department of Neurology Brigham and Women's Hospital Boston Massachusetts

9. Division of Genetics, Department of Pediatrics University of Florida College of Medicine Gainesville Florida 32610

10. PerkinElmer Genomics Pittsburgh Pennsylvania

11. Department of Human Genetics Leiden University Medical Center Leiden Netherlands

12. Institute for Translational Neuroscience University of Minnesota Medical School Minneapolis Minnesota 55455

Funder

National Human Genome Research Institute

National Institutes of Health

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51612

Reference26 articles.

1. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy

2. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

3. Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

4. Genetic landscape and novel disease mechanisms from a largeLGMDcohort of 4656 patients

5. Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan

Cited by 17 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. Further evidence for an attenuated phenotype of in‐frame DMD deletions affecting the central rod domain of dystrophin around exon 48;American Journal of Medical Genetics Part A;2024-08-19

2. Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome;Neurology Clinical Practice;2024-08

3. A rare complex structural variant of novel intragenic inversion combined with reciprocal translocation t(X;1)(p21.2;p13.3) in Duchenne muscular dystrophy;Neuromuscular Disorders;2024-06

4. Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing;Journal of Translational Medicine;2024-05-13

5. The Third-Generation Sequencing Challenge: Novel Insights for the Omic Sciences;Biomolecules;2024-05-10