Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Akshaya Raajkumar"'
Autor:
Stephen W. Scherer, Sergio L. Pereira, Robin Z. Hayeems, Rebekah Jobling, Christian R. Marshall, Raymond H. Kim, Luc Mertens, S. Mohsen Hosseini, Priya Dhir, Ritu B. Aul, Iris Cohn, Sarah Bowdin, Roozbeh Manshaei, Meredith Curtis, Mike Seed, Eriskay Liston, John B. A. Okello, Reem Khan, Rajiv Chaturvedi, Akshaya Raajkumar, Linh Ly, Miriam S. Reuter, Bhooma Thiruvahindrapuram
Publikováno v:
Genetics in Medicine
Purpose This study investigated the diagnostic utility of nontargeted genomic testing in patients with pediatric heart disease. Methods We analyzed genome sequencing data of 111 families with cardiac lesions for rare, disease-associated variation. Re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fedd9e327cc3be2abf121fee17390405
https://doi.org/10.1038/s41436-020-0757-x
https://doi.org/10.1038/s41436-020-0757-x
Autor:
Charly L Phillips, Sergio L. Pereira, Wilson W L Sung, Syed A Haider, Stephen W. Scherer, Christian R. Marshall, Susan Walker, Charlotte Nguyen, Lisa J. Strug, Akshaya Raajkumar, Edward J Higginbotham, Michael J. Szego, Brett Trost
Publikováno v:
Journal of Medical Genetics
BackgroundWhole blood is currently the most common DNA source for whole-genome sequencing (WGS), but for studies requiring non-invasive collection, self-collection, greater sample stability or additional tissue references, saliva or buccal samples ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5925735759d5ad0daff0d94d72837292
https://doi.org/10.1136/jmedgenet-2019-106281
https://doi.org/10.1136/jmedgenet-2019-106281