RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas-Reference-Cited by-同舟云学术

RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

Published:2019-01-10 Issue:3 Volume:7 Page:e00560
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Oliver Gavin R.¹²^ORCID,Blackburn Patrick R.³^ORCID,Ellingson Marissa S.³,Conboy Erin⁴,Pinto e Vairo Filippo¹²,Webley Matthew³,Thorland Erik³,Ferber Matthew³,Van Hul Els⁵,Werf Ilse M.⁵,Wuyts Wim⁵,Babovic‐Vuksanovic Dusica²³⁴,Klee Eric W.¹²³⁴

Affiliation:

1. Department of Health Sciences Research Mayo Clinic Rochester Minnesota

2. Center for Individualized Medicine Mayo Clinic Rochester Minnesota

3. Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota

4. Department of Clinical Genomics Mayo Clinic Rochester Minnesota

5. Center of Medical Genetics University of Antwerp and Antwerp University Hospital Antwerp Belgium

Funder

Fonds Wetenschappelijk Onderzoek

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.560

Reference55 articles.

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4. Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

5. Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses

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