Concepedia

Shuwei Li

SL

39

Publications

2.4K

Citations

23

H-Index

2002

Active since

Affiliations

Ambry Genetics (United States)(Current)

University of California, Irvine

Sichuan Agricultural University

NorthShore University HealthSystem

Sichuan Animal Science Academy

Shuwei Li is an author at Ambry Genetics (United States) specializing in medicine, genetics, and molecular diagnostics.

ORCID

Top concepts

Publications per year

2002–2024

39

Publications

39

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

Katherine L. Helbig, Kelly D. Farwell Hagman, Deepali N. Shinde et al. · Genetics in Medicine · 2016 · 354 citations · Full text

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Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing

Wenbo Mu, Hsiao‐Mei Lu, Jefferey Chen et al. · Journal of Molecular Diagnostics · 2016 · 184 citations · Full text

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing

Hsiao‐Mei Lu, Shuwei Li, Mary Helen Black et al. · JAMA Oncology · 2018 · 176 citations

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline <i>CDH1</i> sequence variants

Kristy Lee, Kate Krempely, Maegan E. Roberts et al. · Human Mutation · 2018 · 167 citations

, , +28

Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results

Mary Pritzlaff, Pia Summerour, Rachel McFarland et al. · Breast Cancer Research and Treatment · 2016 · 148 citations · Full text

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