日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots

新生儿异染性脑白质营养不良筛查研究进展:基于对超过27000份新生儿干血斑样本的分析结果

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

Scalable Newborn Screening Solutions: Bioinformatics and Next-Generation Sequencing

可扩展的新生儿筛查解决方案:生物信息学和下一代测序

Ruiz-Schultz, Nicole; Asay, Bryce; Rohrwasser, Andreas

ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data

ClinVar Miner:展示一款基于 Web 的工具在查看和筛选 ClinVar 数据方面的实用性

Henrie, Alex; Hemphill, Sarah E; Ruiz-Schultz, Nicole; Cushman, Brandon; DiStefano, Marina T; Azzariti, Danielle; Harrison, Steven M; Rehm, Heidi L; Eilbeck, Karen

Improving the Sequence Ontology terminology for genomic variant annotation

改进基因组变异注释的序列本体术语

Cunningham, Fiona; Moore, Barry; Ruiz-Schultz, Nicole; Ritchie, Graham Rs; Eilbeck, Karen