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Joy D. Cogan

As seen in: BioRxiv, Cell Press
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Articles

Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models

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By Kristy L Jay, Nikhita Gogate, Paige Hall, Kimberly Ezell, Jonathan Andrews, Sharayu Jangam, Hongling Pan, Ryan German, Vanessa Gomez, Emily R. Jellinek-Russo, Eric Alan Storch, Shinya Yamamoto, Oguz Kanca, Hugo J. Bellen, Herman A. Dierick, Joy D. Cogan, John Phillips, Rizwan Hamid, Thomas A. Cassini, Sumit Pruthi, Hua-Chang Chen, Jennifer E. Posey, Michael F. Wangler, Kelvin Pham, Lynette Rives
| Cell Press Verified
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WebSeq: A Genomic Data Analytics Platform for Monogenic Disease Discovery

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By Janet G. Markle, Milind Agarwal, Kshitiz Ghimire, Joy D. Cogan
| BioRxiv
New Results Milind Agarwal, Kshitiz Ghimire, Joy D. Cogan, Undiagnosed Disease Network, Janet Markle doi: https://doi.org/10.1101/2021.11.16.460500 Abstract Whole exome sequencing (WES) is commonly used to study monogenic diseases. The application of this sequencing technology has gained in popularity amongst clinicians and researchers as WES pricing has declined.
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