Author
Baylor College of MedicineORCID 0000-0001-7474-9178Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 papers
Recent·Most cited
Gwendolyn Bennett, Izabela Karbassi, Wenjie Chen, Steven M. Harrison, Matthew S. Lebo, Linyan Meng, Narasimhan Nagan, Robert Rigobello, Heidi L. Rehm
The paper examines how variants of uncertain significance (VUS) are reclassified based on subclassification evidence levels across four clinical laboratories.
Genetics in Medicine · Feb 28, 2025Peer-reviewedGenetic & Genomic Medicine
Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Hunter D. Best, Rhonda C. Brandon, Jillian G. Buchan, Elizabeth Chao, Elaine Y. Chen, Jacob Clifford, Ana S.A. Cohen, Laura Kathleen Conlin, Soma Das, Kyle Davis, Daniela del Gaudio, , Stephen Francis Kingsmore
The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.
Genetics in Medicine · Jul 30, 2023Peer-reviewedGenetic & Genomic Medicine
Runjun D. Kumar, Linyan Meng, Pengfei Liu, Christina Y. Miyake, Kim C. Worley, Weimin Bi, Seema R. Lalani
This study evaluates the use of clinical exome sequencing in stroke patients, finding a high frequency of Mendelian disorders in a retrospective cohort.
American Journal of Medical Genetics Part A · Sep 6, 2022Peer-reviewedGenetic & Genomic Medicine
Marie Balzotti, Linyan Meng, Dale Muzzey, Katherine Johansen Taber, Kyle A. Beauchamp, Myriad Genetics Curation Team, Baylor Genetics Curation Team, Rebecca Mar‐Heyming, Bethany A. Buckley, Krista Moyer
The paper evaluates the clinical validity of expanded carrier screening panels by assessing gene-disease associations for 208 conditions using the ClinGen framework, finding strong evidence for all conditions.
Human Mutation · May 7, 2020Peer-reviewedGenetic & Genomic Medicine
Theodore Chiang, Xiuping Liu, Tsung-Jung Wu, Jianhong Hu, Fritz Joachim Sedlazeck, Simon J. White, Daniel J. Schaid, Mariza de Andrade, Gail Pairitz Jarvik, David R. Crosslin, Ian B. Stanaway, David Carrell, John J. Connolly, Hakon H. Hakonarson, Emily Groopman, , Richard A. Gibbs
Atlas-CNV identifies single-exon CNVs in targeted sequencing data with reduced false discovery rate using C-scores and ExonQC thresholds.
Genetics in Medicine · Mar 19, 2019Peer-reviewedGenomics
Rui Yang, Kathryn K. Walder-Christensen, Namsoo Kim, Danwei Wu, Damaris N. Lorenzo, Alexandra Badea, Shen Gu, Haley E. Streff, Claudia Soler‐Alfonso, Linyan Meng, William C. Wetsel, Yong‐hui Jiang, Henry H. Yin, Vann Bennett
This paper identifies a cellular mechanism involving giant ankyrin-B that leads to stochastic axon projections and contributes to neurodiversity and ASD.
bioRxiv · Nov 26, 2018 · PreprintNeuroscience