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LeafCutterMD: an algorithm for outlier splicing detection in rare diseases
Jenkinson, Garrett, Li, Yang I, Basu, Shubham, Cousin, Margot A, Oliver, Gavin R, Klee, Eric W
Published in Bioinformatics (01.11.2020)
Published in Bioinformatics (01.11.2020)
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Journal Article
Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease
Fadra, Numrah, Schultz-Rogers, Laura E, Chanana, Pritha, Cousin, Margot A, Macke, Erica L, Ferrer, Alejandro, Pinto e Vairo, Filippo, Olson, Rory J, Oliver, Gavin R, Mulvihill, Lindsay A, Jenkinson, Garrett, Klee, Eric W
Published in BMC genomics (16.04.2024)
Published in BMC genomics (16.04.2024)
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Journal Article
COVID-19 Mortality Prediction From Deep Learning in a Large Multistate Electronic Health Record and Laboratory Information System Data Set: Algorithm Development and Validation
Sankaranarayanan, Saranya, Balan, Jagadheshwar, Walsh, Jesse R, Wu, Yanhong, Minnich, Sara, Piazza, Amy, Osborne, Collin, Oliver, Gavin R, Lesko, Jessica, Bates, Kathy L, Khezeli, Kia, Block, Darci R, DiGuardo, Margaret, Kreuter, Justin, O’Horo, John C, Kalantari, John, Klee, Eric W, Salama, Mohamed E, Kipp, Benjamin, Morice, William G, Jenkinson, Garrett
Published in Journal of medical Internet research (28.09.2021)
Published in Journal of medical Internet research (28.09.2021)
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Journal Article
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease
Oliver, Gavin R., Tang, Xiaojia, Schultz-Rogers, Laura E., Vidal-Folch, Noemi, Jenkinson, W. Garrett, Schwab, Tanya L., Gaonkar, Krutika, Cousin, Margot A., Nair, Asha, Basu, Shubham, Chanana, Pritha, Oglesbee, Devin, Klee, Eric W.
Published in PloS one (02.10.2019)
Published in PloS one (02.10.2019)
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Journal Article
Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing
Zimmermann, Michael T., Urrutia, Raul, Oliver, Gavin R., Blackburn, Patrick R., Cousin, Margot A., Bozeck, Nicole J., Klee, Eric W.
Published in PloS one (09.02.2017)
Published in PloS one (09.02.2017)
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Journal Article
LPCAT1-TERT fusions are uniquely recurrent in epithelioid trophoblastic tumors and positively regulate cell growth
Oliver, Gavin R., Marcano-Bonilla, Sofia, Quist, Jonathan, Tolosa, Ezequiel J., Iguchi, Eriko, Swanson, Amy A., Hoppman, Nicole L., Schwab, Tanya, Sigafoos, Ashley, Prodduturi, Naresh, Voss, Jesse S., Knight, Shannon M., Zhang, Jin, Fadra, Numrah, Urrutia, Raul, Zimmerman, Michael, Egan, Jan B., Bilyeu, Anthony G., Jen, Jin, Veras, Ema, Al-Safi, Rema’a, Block, Matthew, Kerr, Sarah, Fernandez-Zapico, Martin E., Schoolmeester, John K., Klee, Eric W.
Published in PloS one (25.05.2021)
Published in PloS one (25.05.2021)
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Journal Article
Development and Verification of an RNA Sequencing (RNA-Seq) Assay for the Detection of Gene Fusions in Tumors
Winters, Jennifer L., Davila, Jaime I., McDonald, Amber M., Nair, Asha A., Fadra, Numrah, Wehrs, Rebecca N., Thomas, Brittany C., Balcom, Jessica R., Jin, Long, Wu, Xianglin, Voss, Jesse S., Klee, Eric W., Oliver, Gavin R., Graham, Rondell P., Neff, Jadee L., Rumilla, Kandelaria M., Aypar, Umut, Kipp, Benjamin R., Jenkins, Robert B., Jen, Jin, Halling, Kevin C.
Published in The Journal of molecular diagnostics : JMD (01.07.2018)
Published in The Journal of molecular diagnostics : JMD (01.07.2018)
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Journal Article
SeekFusion - A Clinically Validated Fusion Transcript Detection Pipeline for PCR-Based Next-Generation Sequencing of RNA
Balan, Jagadheshwar, Jenkinson, Garrett, Nair, Asha, Saha, Neiladri, Koganti, Tejaswi, Voss, Jesse, Zysk, Christopher, Barr Fritcher, Emily G., Ross, Christian A., Giannini, Caterina, Raghunathan, Aditya, Kipp, Benjamin R., Jenkins, Robert, Ida, Cris, Halling, Kevin C., Blackburn, Patrick R., Dasari, Surendra, Oliver, Gavin R., Klee, Eric W.
Published in Frontiers in genetics (22.10.2021)
Published in Frontiers in genetics (22.10.2021)
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Journal Article
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies
Cousin, Margot A., Smith, Matthew J., Sigafoos, Ashley N., Jin, Jay J., Murphree, Marine I., Boczek, Nicole J., Blackburn, Patrick R., Oliver, Gavin R., Aleff, Ross A., Clark, Karl J., Wieben, Eric D., Joshi, Avni Y., Pichurin, Pavel N., Abraham, Roshini S., Klee, Eric W.
Published in Journal of clinical immunology (01.04.2018)
Published in Journal of clinical immunology (01.04.2018)
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Journal Article
310 Transcriptomics for gallbladder cancer prognosis
Jackson, Linsey, Allotey, Loretta K., Valles, Kenneth, Oliver, Gavin R., Nair, Asha, Obrien, Daniel R., Graham, Rondell P., Borad, Mitesh J, Athreya, Arjun, Roberts, Lewis R.
Published in Journal of clinical and translational science (01.04.2022)
Published in Journal of clinical and translational science (01.04.2022)
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Journal Article
Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia
Morales‐Rosado, Joel A., Macke, Erica L., Cousin, Margot A., Oliver, Gavin R., Dhamija, Radhika, Klee, Eric W.
Published in Molecular genetics & genomic medicine (01.09.2020)
Published in Molecular genetics & genomic medicine (01.09.2020)
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Journal Article
Long-range Transcriptome Sequencing Reveals Cancer Cell Growth Regulatory Chimeric mRNA
Plebani, Roberto, Oliver, Gavin R, Trerotola, Marco, Guerra, Emanuela, Cantanelli, Pamela, Apicella, Luana, Emerson, Andrew, Albiero, Alessandro, Harkin, Paul D, Kennedy, Richard D, Alberti, Saverio
Published in Neoplasia (New York, N.Y.) (01.11.2012)
Published in Neoplasia (New York, N.Y.) (01.11.2012)
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Journal Article
Bioinformatics for Clinical Next Generation Sequencing
Oliver, Gavin R, Hart, Steven N, Klee, Eric W
Published in Clinical chemistry (Baltimore, Md.) (01.01.2015)
Published in Clinical chemistry (Baltimore, Md.) (01.01.2015)
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Journal Article
Comprehensive Genomic Profiling of a Rare Thyroid Follicular Dendritic Cell Sarcoma
Davila, Jaime I., Starr, Jason S., Attia, Steven, Wang, Chen, Knudson, Ryan A., Necela, Brian M., Sarangi, Vivekananda, Sun, Zhifu, Ren, Yingxue, Casler, John D., Menke, David M., Oliver, Gavin R., Joseph, Richard W., Copland, John A., Parker, Alexander S., Kocher, Jean-Pierre A., Thompson, E. Aubrey, Smallridge, Robert C., Asmann, Yan W.
Published in Rare tumors (15.09.2017)
Published in Rare tumors (15.09.2017)
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Journal Article
"The molecule's the thing:" the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results [version 2; peer review: 2 approved, 1 approved with reservations]
Oliver, Gavin R, Zimmermann, Michael T, Klee, Eric W, Urrutia, Raul A
Published in F1000 research (2016)
Published in F1000 research (2016)
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Journal Article
The Colorectal cancer disease-specific transcriptome may facilitate the discovery of more biologically and clinically relevant information
Allen, Wendy L, Jithesh, Puthen V, Oliver, Gavin R, Proutski, Irina, Longley, Daniel B, Lenz, Heinz-Josef, Proutski, Vitali, Harkin, Paul, Johnston, Patrick G
Published in BMC cancer (20.12.2010)
Published in BMC cancer (20.12.2010)
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Journal Article