Search Results - "Ruiz‐Schultz, Nicole"

ClinVar Miner: Demonstrating utility of a Web‐based tool for viewing and filtering ClinVar data by Henrie, Alex, Hemphill, Sarah E., Ruiz‐Schultz, Nicole, Cushman, Brandon, DiStefano, Marina T., Azzariti, Danielle, Harrison, Steven M., Rehm, Heidi L., Eilbeck, Karen

“…ClinVar Miner is a Web‐based suite that utilizes the data held in the National Center for Biotechnology Information's ClinVar archive. The goal is to render…”
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Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots by Hong, Xinying, Daiker, Jessica, Sadilek, Martin, Ruiz-Schultz, Nicole, Kumar, Arun Babu, Norcross, Stevie, Dansithong, Warunee, Suhr, Teryn, Escolar, Maria L., Ronald Scott, C., Rohrwasser, Andreas, Gelb, Michael H.

“…Purpose Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ARSA), which results in the…”
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Scalable Newborn Screening Solutions: Bioinformatics and Next-Generation Sequencing by Ruiz-Schultz, Nicole, Asay, Bryce, Rohrwasser, Andreas

“…Expansion of the newborn disorder panel requires the incorporation of new testing modalities. This is especially true for disorders lacking robust biomarkers…”
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P385: Understanding clinician needs and preferences with respect to returned NBS results by Eilbeck, Karen, Ruiz-Schultz, Nicole, Christiansen, Evan, Rohrwasser, Andreas

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Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening by Ruiz-Schultz, Nicole, Sant, David, Norcross, Stevie, Dansithong, Warunee, Hart, Kim, Asay, Bryce, Little, Jordan, Chung, Krystal, Oakeson, Kelly F., Young, Erin L., Eilbeck, Karen, Rohrwasser, Andreas

“…Newborn screening disorders increasingly require genetic variant analysis as part of second-tier or confirmatory testing. Sanger sequencing and gene-specific…”
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Assessment and Unification of Variant Annotation: Alteration, Effect, and Nomenclature by Ruiz-Schultz, Nicole Marie

“…Decreasing cost of next-generation sequencing (NGS) has led to its increased usage in healthcare to aid in developing a patient diagnosis and treatment plan…”
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Improving the Sequence Ontology terminology for genomic variant annotation by Cunningham, Fiona, Moore, Barry, Ruiz-Schultz, Nicole, Ritchie, Graham Rs, Eilbeck, Karen

“…The Genome Variant Format (GVF) uses the Sequence Ontology (SO) to enable detailed annotation of sequence variation. The annotation includes SO terms for the…”
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