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

по Oliver, Gavin R
Опубликовано 2012

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

по Oliver, Gavin R., Zimmermann, Michael T., Klee, Eric W., Urrutia, Raul A.
Опубликовано в: F1000Res (2016)

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

по Zimmermann, Michael T., Urrutia, Raul, Cousin, Margot A., Oliver, Gavin R., Klee, Eric W.
Опубликовано в: Front Genet (2018)

LeafCutterMD: an algorithm for outlier splicing detection in rare diseases

по Jenkinson, Garrett, Li, Yang I, Basu, Shubham, Cousin, Margot A, Oliver, Gavin R, Klee, Eric W
Опубликовано в: Bioinformatics (2020)

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

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

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

по Morales‐Rosado, Joel A., Macke, Erica L., Cousin, Margot A., Oliver, Gavin R., Dhamija, Radhika, Klee, Eric W.
Опубликовано в: 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...

по Zimmermann, Michael T., Urrutia, Raul, Oliver, Gavin R., Blackburn, Patrick R., Cousin, Margot A., Bozeck, Nicole J., Klee, Eric W.
Опубликовано в: PLoS One (2017)

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

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

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

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

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

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

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

по 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
Опубликовано 2012

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

по 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.
Опубликовано в: Cold Spring Harb Mol Case Stud (2017)

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

по 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.
Опубликовано в: J Hematol Oncol (2015)

Generation of a non-small cell lung cancer transcriptome microarray

по 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
Опубликовано 2008

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

по 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.
Опубликовано в: 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

по 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.
Опубликовано в: Mol Genet Genomic Med (2019)

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

по 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.
Опубликовано в: Eur J Hum Genet (2018)

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

по 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.
Опубликовано 2014

Comprehensive Genomic Profiling of a Rare Thyroid Follicular Dendritic Cell Sarcoma

по 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.
Опубликовано в: Rare Tumors (2017)

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

по 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.
Опубликовано в: PLoS One (2021)