Considerations for clinical read alignment and mutational profiling using next-generation sequencing

por Oliver, Gavin R
Publicado 2012

“The molecule’s the thing:” the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results

por Oliver, Gavin R., Zimmermann, Michael T., Klee, Eric W., Urrutia, Raul A.
Publicado en F1000Res (2016)

Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties

por Zimmermann, Michael T., Urrutia, Raul, Cousin, Margot A., Oliver, Gavin R., Klee, Eric W.
Publicado en Front Genet (2018)

LeafCutterMD: an algorithm for outlier splicing detection in rare diseases

por Jenkinson, Garrett, Li, Yang I, Basu, Shubham, Cousin, Margot A, Oliver, Gavin R, Klee, Eric W
Publicado en Bioinformatics (2020)

Identification of differentially expressed sense and antisense transcript pairs in breast epithelial tissues

por Grigoriadis, Anita, Oliver, Gavin R, Tanney, Austin, Kendrick, Howard, Smalley, Matt J, Jat, Parmjit, Neville, A Munro
Publicado 2009

Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia

por Morales‐Rosado, Joel A., Macke, Erica L., Cousin, Margot A., Oliver, Gavin R., Dhamija, Radhika, Klee, Eric W.
Publicado en Mol Genet Genomic Med (2020)

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...

por Zimmermann, Michael T., Urrutia, Raul, Oliver, Gavin R., Blackburn, Patrick R., Cousin, Margot A., Bozeck, Nicole J., Klee, Eric W.
Publicado en PLoS One (2017)

PANDA: pathway and annotation explorer for visualizing and interpreting gene-centric data

por Hart, Steven N., Moore, Raymond M., Zimmermann, Michael T., Oliver, Gavin R., Egan, Jan B., Bryce, Alan H., Kocher, Jean-Pierre A.
Publicado en PeerJ (2015)

A smooth muscle tone-dependent stretch-activated migrating motor pattern in isolated guinea-pig distal colon

por Smith, Terence K, Oliver, Gavin R, Hennig, Grant W, O'Shea, Deirdre M, Berghe, Pieter Vanden, Kang, Sok Han, Spencer, Nick J
Publicado 2003

The Colorectal cancer disease-specific transcriptome may facilitate the discovery of more biologically and clinically relevant information

por Allen, Wendy L, Jithesh, Puthen V, Oliver, Gavin R, Proutski, Irina, Longley, Daniel B, Lenz, Heinz-Josef, Proutski, Vitali, Harkin, Paul, Johnston, Patrick G
Publicado 2010

Long-range Transcriptome Sequencing Reveals Cancer Cell Growth Regulatory Chimeric mRNA

por 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
Publicado 2012

Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys–Dietz syndrome (LDS) impairs canonical TGF-β signaling

por Cousin, Margot A., Zimmermann, Michael T., Mathison, Angela J., Blackburn, Patrick R., Boczek, Nicole J., Oliver, Gavin R., Lomberk, Gwen A., Urrutia, Raul A., Deyle, David R., Klee, Eric W.
Publicado en Cold Spring Harb Mol Case Stud (2017)

The Hedgehog pathway as targetable vulnerability with 5-azacytidine in myelodysplastic syndrome and acute myeloid leukemia

por Tibes, Raoul, Al-Kali, Aref, Oliver, Gavin R, Delman, Devora H, Hansen, Nanna, Bhagavatula, Keerthi, Mohan, Jayaram, Rakhshan, Fariborz, Wood, Thomas, Foran, James M., Mesa, Ruben A., Bogenberger, James M.
Publicado en J Hematol Oncol (2015)

Generation of a non-small cell lung cancer transcriptome microarray

por Tanney, Austin, Oliver, Gavin R, Farztdinov, Vadim, Kennedy, Richard D, Mulligan, Jude M, Fulton, Ciaran E, Farragher, Susan M, Field, John K, Johnston, Patrick G, Harkin, D Paul, Proutski, Vitali, Mulligan, Karl A
Publicado 2008

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease

por 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.
Publicado en PLoS One (2019)

RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

por Oliver, Gavin R., Blackburn, Patrick R., Ellingson, Marissa S., Conboy, Erin, Pinto e Vairo, Filippo, Webley, Matthew, Thorland, Erik, Ferber, Matthew, Van Hul, Els, van der Werf, Ilse M., Wuyts, Wim, Babovic‐Vuksanovic, Dusica, Klee, Eric W.
Publicado en Mol Genet Genomic Med (2019)

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants

por Boczek, Nicole J., Hopp, Katharina, Benoit, Lacey, Kraft, Daniel, Cousin, Margot A., Blackburn, Patrick R., Madsen, Charles D., Oliver, Gavin R., Nair, Asha A., Na, Jie, Bianchi, Diana W., Beek, Geoffrey, Harris, Peter C., Pichurin, Pavel, Klee, Eric W.
Publicado en Eur J Hum Genet (2018)

PatternCNV: a versatile tool for detecting copy number changes from exome sequencing data

por Wang, Chen, Evans, Jared M., Bhagwate, Aditya V., Prodduturi, Naresh, Sarangi, Vivekananda, Middha, Mridu, Sicotte, Hugues, Vedell, Peter T., Hart, Steven N., Oliver, Gavin R., Kocher, Jean-Pierre A., Maurer, Matthew J., Novak, Anne J., Slager, Susan L., Cerhan, James R., Asmann, Yan W.
Publicado 2014

Comprehensive Genomic Profiling of a Rare Thyroid Follicular Dendritic Cell Sarcoma

por 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.
Publicado en Rare Tumors (2017)

LPCAT1-TERT fusions are uniquely recurrent in epithelioid trophoblastic tumors and positively regulate cell growth

por 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.
Publicado en PLoS One (2021)