Xiang Li
13 Papers
136 Citations
Xiang Li is an academic researcher. The author has contributed to research in topics: Medicine & Gene. The author has an hindex of 7, co-authored 8 publications.
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Papers
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions
Kelly D. Farwell,Layla Shahmirzadi,Dima El-Khechen,Zöe Powis,Elizabeth C. Chao,Brigette Tippin Davis,Ruth M. Baxter,Wenqi Zeng,Cameron Mroske,Melissa C. Parra,Stephanie K. Gandomi,Ira Lu,Xiang Li,Hong Lu,Hsiao-Mei Lu,David J. Salvador,David Ruble,Monica Lao,Soren Fischbach,Jennifer Wen,Shela Lee,Aaron Elliott,Charles Dunlop,Sha Tang +23 more
TL;DR: The utility of family-based exome sequencing and analysis is demonstrated to obtain the highest reported detection rate in an unselected clinical cohort, illustrating the utility of diagnosticExome sequencing as a transformative technology for the molecular diagnosis of genetic disease.
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The Validation and Clinical Implementation of BRCAplus: A Comprehensive High-Risk Breast Cancer Diagnostic Assay
Hansook Kim Chong,Tao Wang,Hsiao Mei Lu,Sara Seidler,Hong Lu,Steven Keiles,Elizabeth C. Chao,A. J. Stuenkel,Xiang Li,Aaron Elliott +9 more
TL;DR: The NGS based BRCAplus test utilizes a custom tiled PCR based target enrichment design and bioinformatics pipeline coupled with array comparative genomic hybridization (aCGH) to identify mutations in the six high-risk genes: BRC a1, BRCa2, PTEN, TP53, CDH1, and STK11.
Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis.
Russell J. Butterfield,Tamara J. Stevenson,Lingyan Xing,Tara M. Newcomb,Benjamin W. Nelson,Wenqi Zeng,Xiang Li,Hsiao Mei Lu,Hong Lu,Kelly Gonzalez,Jia Perng Wei,Elizabeth C. Chao,Thomas W. Prior,Pamela J. Snyder,Joshua L. Bonkowsky,Kathryn J. Swoboda +15 more
TL;DR: It is proposed that disruption of ribosomal maturation may be a common pathogenic mechanism linking SMARD phenotypes caused by both IGHMBP2 and LAS1L.
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Clinical and genetic characterization of a large cohort of patients with Wilson’s disease in China
TL;DR: Li et al. as mentioned in this paper performed a comprehensive analysis of ATP7B variants in China and investigated a plausible role of common variants in WD manifestations, and identified 294 potentially pathogenic ATP7b variants (112 truncating, 174 missense, 8 in-frame) in the index patients, including 116 novel variants.
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Patent
Molecular genetic diagnostic system
Xiang Li,Hong Lu,Hsiaomei Lu,Kelly Gonzalez,Melissa C. Parra,Wenqi Zeng,Elizabeth C. Chao,Charles Dunlop +7 more
- 24 Sep 2013
TL;DR: A computer-implemented bioinformatics program annotates human genetic variants by integrating multiple sources of information, such as clinical profiles and family histories, and analyses under various inheritance models, in order to classify human variants and identify mutations influencing patients' diseases.
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