Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing-Reference-Cited by-同舟云学术

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

Published:2016-09-28 Issue:4 Volume:17 Page:265-270
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Kumar Kishore R,Wali G.M.,Kamate Mahesh,Wali Gautam,Minoche André E,Puttick Clare,Pinese Mark,Gayevskiy Velimir,Dinger Marcel E,Roscioli Tony,Sue Carolyn M.,Cowley Mark J

Funder

Royal Australasian College of Physicians

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-016-0495-z.pdf

Reference14 articles.

1. Hensiek A, Kirker S, Reid E (2015) Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing. J Neurol 262(7):1601–1612. doi: 10.1007/s00415-014-7598-y

2. Kumar KR, Blair NF, Vandebona H, Liang C, Ng K, Sharpe DM, Grunewald A, Golnitz U, Saviouk V, Rolfs A, Klein C, Sue CM (2013) Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. J Neurol 260(10):2516–2522. doi: 10.1007/s00415-013-7008-x

3. Mallawaarachchi AC, Hort Y, Cowley MJ, McCabe MJ, Minoche A, Dinger ME, Shine J, Furlong TJ (2016) Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease. European journal of human genetics : EJHG. doi: 10.1038/ejhg.2016.48

4. Manichaikul A, Mychaleckyj JC, Rich SS, Daly K, Sale M, Chen WM (2010) Robust relationship inference in genome-wide association studies. Bioinformatics 26(22):2867–2873. doi: 10.1093/bioinformatics/btq559

5. Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GM, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG (2014) Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343(6170):506–511. doi: 10.1126/science.1247363

Cited by 34 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. Characterisation of the retinal phenotype using multimodal imaging in novel compound heterozygote variants of CYP2U1;Ophthalmology Science;2024-09

2. Next-Generation Sequencing and Emerging Technologies*;Seminars in Thrombosis and Hemostasis;2024-05-01

3. A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants;Pediatric Neurology;2024-03

4. Clinical and genetic characteristics of CYP2U1-associated hereditary spastic paraplegia in three children from China;2023-10-19

5. Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice;neurogenetics;2023-05-03