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Improving the Sequence Ontology terminology for genomic variant annotation.
J Biomed Semantics. 2015 Jul 31;6:32. doi: 10.1186/s13326-015-0030-4. eCollection 2015.
J Biomed Semantics. 2015.
PMID: 26229585
Free PMC article.
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data.
Henrie A, Hemphill SE, Ruiz-Schultz N, Cushman B, DiStefano MT, Azzariti D, Harrison SM, Rehm HL, Eilbeck K.
Henrie A, et al. Among authors: ruiz schultz n.
Hum Mutat. 2018 Aug;39(8):1051-1060. doi: 10.1002/humu.23555. Epub 2018 Jun 21.
Hum Mutat. 2018.
PMID: 29790234
Free PMC article.
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Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening.
Ruiz-Schultz N, Sant D, Norcross S, Dansithong W, Hart K, Asay B, Little J, Chung K, Oakeson KF, Young EL, Eilbeck K, Rohrwasser A.
Ruiz-Schultz N, et al.
Genet Med. 2021 Apr;23(4):767-776. doi: 10.1038/s41436-020-01058-w. Epub 2021 Jan 13.
Genet Med. 2021.
PMID: 33442025
Free article.
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Scalable Newborn Screening Solutions: Bioinformatics and Next-Generation Sequencing.
Ruiz-Schultz N, Asay B, Rohrwasser A.
Ruiz-Schultz N, et al.
Int J Neonatal Screen. 2021 Sep 30;7(4):63. doi: 10.3390/ijns7040063.
Int J Neonatal Screen. 2021.
PMID: 34698050
Free PMC article.
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Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots.
Hong X, Daiker J, Sadilek M, Ruiz-Schultz N, Kumar AB, Norcross S, Dansithong W, Suhr T, Escolar ML, Ronald Scott C, Rohrwasser A, Gelb MH.
Hong X, et al. Among authors: ruiz schultz n.
Genet Med. 2021 Mar;23(3):555-561. doi: 10.1038/s41436-020-01017-5. Epub 2020 Nov 20.
Genet Med. 2021.
PMID: 33214709
Free PMC article.
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