Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes-Reference-Cited by-同舟云学术

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes

Published:2011-07-20 Issue:9 Volume:32 Page:1053-1062
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Baetens Machteld,Van Laer Lut,De Leeneer Kim,Hellemans Jan,De Schrijver Joachim,Van De Voorde Hendrik,Renard Marjolijn,Dietz Hal,Lacro Ronald V.,Menten Björn,Van Criekinge Wim,De Backer Julie,De Paepe Anne,Loeys Bart,Coucke Paul J.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference18 articles.

1. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database;Collod-Beroud;Hum Mutat,2003

2. Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations;De Leeneer;Hum Mutat,2011

3. Revised diagnostic criteria for the Marfan syndrome;De Paepe;Am J Med Genet,1996

4. Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline;De Schrijver;BMC Bioinformatics,2010

5. Paired-end mapping reveals extensive structural variation in the human genome;Korbel;Science,2007

Cited by 71 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. Overcoming challenges associated with identifying FBN1 deep intronic variants through whole‐genome sequencing;Journal of Clinical Laboratory Analysis;2024-01

2. ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification;The American Journal of Human Genetics;2024-01

3. Connective Tissue Disorders;Disorders of the Heart and Blood Vessels;2023-11-15

4. Thoracic aorta diameters in Marfan patients: Intraindividual comparison of 3D modified relaxation-enhanced angiography without contrast and triggering (REACT) with transthoracic echocardiography;International Journal of Cardiology;2023-11

5. A novel de novo intragenic duplication in FBN1 associated with early‐onset Marfan syndrome in a 16‐month‐old: A case report and review of the literature;American Journal of Medical Genetics Part A;2023-10-15