A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions inC9orf72reveals marked differences in results among 14 laboratories-Reference-Cited by-同舟云学术

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions inC9orf72reveals marked differences in results among 14 laboratories

Published:2014-04-04 Issue:6 Volume:51 Page:419-424
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Akimoto Chizuru,Volk Alexander E,van Blitterswijk Marka,Van den Broeck Marleen,Leblond Claire S,Lumbroso Serge,Camu William,Neitzel Birgit,Onodera Osamu,van Rheenen Wouter,Pinto Susana,Weber Markus,Smith Bradley,Proven Melanie,Talbot Kevin,Keagle Pamela,Chesi Alessandra,Ratti Antonia,van der Zee Julie,Alstermark Helena,Birve Anna,Calini Daniela,Nordin Angelica,Tradowsky Daniela C,Just Walter,Daoud Hussein,Angerbauer Sabrina,DeJesus-Hernandez Mariely,Konno Takuya,Lloyd-Jani Anjali,de Carvalho Mamede,Mouzat Kevin,Landers John E,Veldink Jan H,Silani Vincenzo,Gitler Aaron D,Shaw Christopher E,Rouleau Guy A,van den Berg Leonard H,Van Broeckhoven Christine,Rademakers Rosa,Andersen Peter M,Kubisch Christian

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference13 articles.

1. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS;DeJesus-Hernandez;Neuron,2011

2. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD;Renton;Neuron,2011

3. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study;Gijselinck;Lancet Neurol,2012

4. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder;Smith;Eur J Hum Genet,2013

5. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study;Majounie;Lancet Neurol,2012

Cited by 115 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. C9orf72 gene repeat expansion phenotype profile of motor neurone disease in Portugal;Journal of the Neurological Sciences;2024-10

2. PABPC1 mediates degradation of C9orf72-FTLD/ALS GGGGCC repeat RNA;iScience;2024-03

3. Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation;Frontiers in Neurology;2024-01-31

4. LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants;BMC Genomics;2024-01-26

5. Validated assays for the quantification of C9orf72 human pathology;Scientific Reports;2024-01-08