Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome-Reference-Cited by-同舟云学术

Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome

Published:2015-01-15 Issue:S1 Volume:16 Page:
ISSN:1471-2164
Container-title:BMC Genomics
language:en
Short-container-title:BMC Genomics

Author:

Marshall Christian R,Farrell Sandra A,Cushing Donna,Paton Tara,Stockley Tracy L,Stavropoulos Dimitri J,Ray Peter N,Szego Michael,Lau Lynette,Pereira Sergio L,Cohn Ronald D,Wintle Richard F,Abuzenadah Adel M,Abu-Elmagd Muhammad,Scherer Stephen W

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Biotechnology

Link

https://link.springer.com/content/pdf/10.1186/1471-2164-16-S1-S12.pdf

Reference25 articles.

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4. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloǧ lu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP: Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A. 2009, 106 (45): 19096-101. 10.1073/pnas.0910672106.

5. Krawitz PM, Schweiger MR, Rödelsperger C, Marcelis C, Kölsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, Köhler S, Jäger M, Grünhagen J, de Condor BJ, Doelken S, Brunner HG, Meinecke P, Passarge E, Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S, Robinson PN: Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet. 2010, 42 (10): 827-9. 10.1038/ng.653.

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