Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome-Reference-Cited by-同舟云学术

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Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome

Published:2013-12-04 Issue: Volume:2 Page:
ISSN:2047-6396
Container-title:BoneKEy Reports
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Author:

McInerney-Leo Aideen M,Marshall Mhairi S,Gardiner Brooke,Coucke Paul J,Van Laer Lut,Loeys Bart L,Summers Kim M,Symoens Sofie,West Jennifer A,West Malcolm J,Paul Wordsworth B,Zankl Andreas,Leo Paul J,Brown Matthew A,Duncan Emma L

Publisher

Portico

Subject

General Medicine

Cited by 25 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. Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes;Frontiers in Endocrinology;2023-10-20

2. Microhomology-Mediated Break-Induced Replication: A Possible Molecular Mechanism of the Formation of a Large CNV in FBN1 Gene in a Patient with Marfan Syndrome;Current Molecular Medicine;2023-06

3. Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature;Molecular Genetics & Genomic Medicine;2023-03-21

4. Fibrillin-1 and asprosin, novel players in metabolic syndrome;Molecular Genetics and Metabolism;2023-01

5. Genome-wide association study reveals growth-related markers and candidate genes for selection in Chinese longsnout catfish (Leiocassis longirostris);Aquaculture;2022-11

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