Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency-Reference-Cited by-同舟云学术

Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency

Published:2017-12-15 Issue:1 Volume:6 Page:200-205
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Abhyankar Avinash¹^ORCID,Lamendola-Essel Michelle¹,Brennan Kelly²,Giordano Jessica L.²,Esteves Cecilia¹,Felice Vanessa¹,Wapner Ronald²,Jobanputra Vaidehi¹³

Affiliation:

1. Molecular Diagnostics; New York Genome Center; New York city New York

2. Department of Obstetrics & Gynecology; Columbia University Medical Center; New York city New York

3. Department of Pathology and Cell Biology; Columbia University Medical Center; New York city New York

Publisher

Wiley

Subject

General Medicine

Reference15 articles.

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4. Picard Tools http://broadinstitute.github.io/picard

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