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International Journal of Neonatal Screening|October 26, 2021
Scalable Newborn Screening Solutions: Bioinformatics and Next-Generation SequencingNicole Ruiz-Schultz, Bryce Asay, Andreas RohrwasserJournal of Biomedical Semantics|August 1, 2015
Improving the Sequence Ontology terminology for genomic variant annotationFiona Cunningham, Barry Moore, Nicole Ruiz-Schultz, et al.Human Mutation|May 24, 2018
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar dataAlex Henrie, Sarah E Hemphill, Nicole Ruiz-Schultz, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 14, 2021
Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screeningNicole Ruiz-Schultz, David Sant, Stevie Norcross, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 20, 2020
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spotsXinying Hong, Jessica Daiker, Martin Sadilek, et al.Pageof 1