Full-length isoform concatenation sequencing to resolve cancer transcriptome complexity
Wijeratne, Saranga, Gonzalez, Maria E Hernandez, Roach, Kelli, Miller, Katherine E, Schieffer, Kathleen M, Fitch, James R, Leonard, Jeffrey, White, Peter, Kelly, Benjamin J, Cottrell, Catherine E, Mardis, Elaine R, Wilson, Richard K, Miller, Anthony R
Published in BMC genomics (29.01.2024)
Published in BMC genomics (29.01.2024)
Get full text
Journal Article
Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery
Gordon, David M., Cunningham, David, Zender, Gloria, Lawrence, Patrick J., Penaloza, Jacqueline S., Lin, Hui, Fitzgerald-Butt, Sara M., Myers, Katherine, Duong, Tiffany, Corsmeier, Donald J., Gaither, Jeffrey B., Kuck, Harkness C., Wijeratne, Saranga, Moreland, Blythe, Kelly, Benjamin J., Garg, Vidu, White, Peter, McBride, Kim L.
Published in PLoS genetics (01.06.2022)
Published in PLoS genetics (01.06.2022)
Get full text
Journal Article
Evidence of pioneer factor activity of an oncogenic fusion transcription factor
Sunkel, Benjamin D., Wang, Meng, LaHaye, Stephanie, Kelly, Benjamin J., Fitch, James R., Barr, Frederic G., White, Peter, Stanton, Benjamin Z.
Published in iScience (20.08.2021)
Published in iScience (20.08.2021)
Get full text
Journal Article
Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia
Mihalic Mosher, Theresa, Zygmunt, Deborah A, Koboldt, Daniel C, Kelly, Benjamin J, Johnson, Lisa R, McKenna, David S, Hood, Benjamin C, Hickey, Scott E, White, Peter, Wilson, Richard K, Martin, Paul T, McBride, Kim L
Published in European journal of human genetics : EJHG (01.10.2019)
Published in European journal of human genetics : EJHG (01.10.2019)
Get full text
Journal Article
CRISPR-Cas9 homology-independent targeted integration of exons 1–19 restores full-length dystrophin in mice
Stephenson, Anthony A., Nicolau, Stefan, Vetter, Tatyana A., Dufresne, Gabrielle P., Frair, Emma C., Sarff, Jessica E., Wheeler, Gregory L., Kelly, Benjamin J., White, Peter, Flanigan, Kevin M.
Published in Molecular therapy. Methods & clinical development (14.09.2023)
Published in Molecular therapy. Methods & clinical development (14.09.2023)
Get full text
Journal Article
HrrF is the Fur-regulated small RNA in nontypeable Haemophilus influenzae
Santana, Estevan A, Harrison, Alistair, Zhang, Xinjun, Baker, Beth D, Kelly, Benjamin J, White, Peter, Liu, Yunlong, Munson, Jr, Robert S
Published in PloS one (26.08.2014)
Published in PloS one (26.08.2014)
Get full text
Journal Article
Endogenous retrovirus envelope as a tumor-associated immunotherapeutic target in murine osteosarcoma
Wedekind, Mary Frances, Miller, Katherine E., Chen, Chun-Yu, Wang, Pin-Yi, Hutzen, Brian J., Currier, Mark A., Nartker, Brooke, Roberts, Ryan D., Boon, Louis, Conner, Joe, LaHaye, Stephanie, Kelly, Benjamin J., Gordon, David, White, Peter, Mardis, Elaine R., Cripe, Timothy P.
Published in iScience (23.07.2021)
Published in iScience (23.07.2021)
Get full text
Journal Article
Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads
Darby, Charlotte A., Fitch, James R., Brennan, Patrick J., Kelly, Benjamin J., Bir, Natalie, Magrini, Vincent, Leonard, Jeffrey, Cottrell, Catherine E., Gastier-Foster, Julie M., Wilson, Richard K., Mardis, Elaine R., White, Peter, Langmead, Ben, Schatz, Michael C.
Published in iScience (30.08.2019)
Published in iScience (30.08.2019)
Get full text
Journal Article
Salivary gland carcinosarcoma ex pleomorphic adenoma: a case report with molecular characterization
Javaid, Sehrish, Wang, Daren, Kelly, Benjamin J, Kalim, Sonya, Yanich, Jason, Kalmar, John R., Mallery, Susan R.
Published in Oral surgery, oral medicine, oral pathology and oral radiology (01.08.2024)
Published in Oral surgery, oral medicine, oral pathology and oral radiology (01.08.2024)
Get full text
Journal Article
Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics
Kelly, Benjamin J, Fitch, James R, Hu, Yangqiu, Corsmeier, Donald J, Zhong, Huachun, Wetzel, Amy N, Nordquist, Russell D, Newsom, David L, White, Peter
Published in Genome Biology (20.01.2015)
Published in Genome Biology (20.01.2015)
Get full text
Journal Article
Detection of brain somatic variation in epilepsy‐associated developmental lesions
Bedrosian, Tracy A., Miller, Katherine E., Grischow, Olivia E., Schieffer, Kathleen M., LaHaye, Stephanie, Yoon, Hyojung, Miller, Anthony R., Navarro, Jason, Westfall, Jesse, Leraas, Kristen, Choi, Samantha, Williamson, Rachel, Fitch, James, Kelly, Benjamin J., White, Peter, Lee, Kristy, McGrath, Sean, Cottrell, Catherine E., Magrini, Vincent, Leonard, Jeffrey, Pindrik, Jonathan, Shaikhouni, Ammar, Boué, Daniel R., Thomas, Diana L., Pierson, Christopher R., Wilson, Richard K., Ostendorf, Adam P., Mardis, Elaine R., Koboldt, Daniel C.
Published in Epilepsia (Copenhagen) (01.08.2022)
Published in Epilepsia (Copenhagen) (01.08.2022)
Get full text
Journal Article
YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas
Schieffer, Kathleen M, Agarwal, Vibhuti, LaHaye, Stephanie, Miller, Katherine E, Koboldt, Daniel C, Lichtenberg, Tara, Leraas, Kristen, Brennan, Patrick, Kelly, Benjamin J, Crist, Erin, Rusin, Jerome, Finlay, Jonathan L, Osorio, Diana S, Sribnick, Eric A, Leonard, Jeffrey R, Feldman, Alexander, Orr, Brent A, Serrano, Jonathan, Vasudevaraja, Varshini, Snuderl, Matija, White, Peter, Magrini, Vincent, Wilson, Richard K, Mardis, Elaine R, Boué, Daniel R, Cottrell, Catherine E
Published in The American journal of surgical pathology (01.03.2021)
Published in The American journal of surgical pathology (01.03.2021)
Get more information
Journal Article
Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome–Based Resolution of Isoform Complexity
Miller, Anthony R., Wijeratne, Saranga, McGrath, Sean D., Schieffer, Kathleen M., Miller, Katherine E., Lee, Kristy, Mathew, Mariam, LaHaye, Stephanie, Fitch, James R., Kelly, Benjamin J., White, Peter, Mardis, Elaine R., Wilson, Richard K., Cottrell, Catherine E., Magrini, Vincent
Published in The Journal of molecular diagnostics : JMD (01.12.2022)
Published in The Journal of molecular diagnostics : JMD (01.12.2022)
Get full text
Journal Article
Correspondence comprehensive characterization of a brainstem aggregoma (light and heavy chain deposition disease)
Becker, Aline P., Osorio, Diana S., Bell, Erica H., Giglio, Pierre, Fleming, Jessica L., Cottrell, Catherine E., Mardis, Elaine R., Miller, Katherine E., Schieffer, Kathleen M., Kelly, Benjamin J., Makary, Mina S., Slone, Wayne, Benson, Don, Leonard, Jeffrey, Kahwash, Samir B., Boué, Daniel R., Chakravarti, Arnab
Published in Brain pathology (Zurich, Switzerland) (01.09.2023)
Published in Brain pathology (Zurich, Switzerland) (01.09.2023)
Get full text
Journal Article
Gastroblastoma with a novel EWSR1‐CTBP1 fusion presenting in adolescence
Koo, Selene C., LaHaye, Stephanie, Kovari, Bence P., Schieffer, Kathleen M., Ranalli, Mark A., Aldrink, Jennifer H., Michalsky, Marc P., Colace, Susan, Miller, Katherine E., Bedrosian, Tracy A., Leraas, Kristen M., Voytovich, Kyle, Wheeler, Gregory, Brennan, Patrick, Fitch, James, Kelly, Benjamin J., McGrath, Sean D., Miller, Anthony R., White, Peter, Magrini, Vincent, Wilson, Richard K., Mardis, Elaine R., Lauwers, Gregory Y., Baker, Peter B., Cottrell, Catherine E.
Published in Genes chromosomes & cancer (01.09.2021)
Published in Genes chromosomes & cancer (01.09.2021)
Get full text
Journal Article
Discovery of clinically relevant fusions in pediatric cancer
LaHaye, Stephanie, Fitch, James R, Voytovich, Kyle J, Herman, Adam C, Kelly, Benjamin J, Lammi, Grant E, Arbesfeld, Jeremy A, Wijeratne, Saranga, Franklin, Samuel J, Schieffer, Kathleen M, Bir, Natalie, McGrath, Sean D, Miller, Anthony R, Wetzel, Amy, Miller, Katherine E, Bedrosian, Tracy A, Leraas, Kristen, Varga, Elizabeth A, Lee, Kristy, Gupta, Ajay, Setty, Bhuvana, Boué, Daniel R, Leonard, Jeffrey R, Finlay, Jonathan L, Abdelbaki, Mohamed S, Osorio, Diana S, Koo, Selene C, Koboldt, Daniel C, Wagner, Alex H, Eisfeld, Ann-Kathrin, Mrózek, Krzysztof, Magrini, Vincent, Cottrell, Catherine E, Mardis, Elaine R, Wilson, Richard K, White, Peter
Published in BMC genomics (04.12.2021)
Published in BMC genomics (04.12.2021)
Get full text
Journal Article
Molecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined
Shatara, Margaret, Schieffer, Kathleen M., Melas, Marilena, Varga, Elizabeth A., Thomas, Diana, Bucknor, Brianna A., Costello, Heather M., Wheeler, Gregory, Kelly, Benjamin J., Miller, Katherine E., Rodriguez, Diana P., Mathew, Mariam T., Lee, Kristy, Crotty, Erin, Leary, Sarah, Paulson, Vera A., Cole, Bonnie, Abdelbaki, Mohamed S., Finlay, Jonathan L., Lazow, Margot A., Salloum, Ralph, Fouladi, Maryam, Boué, Daniel R., Mardis, Elaine R., Cottrell, Catherine E.
Published in Frontiers in oncology (06.09.2024)
Published in Frontiers in oncology (06.09.2024)
Get full text
Journal Article
Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population
Gaither, Jeffrey B S, Lammi, Grant E, Li, James L, Gordon, David M, Kuck, Harkness C, Kelly, Benjamin J, Fitch, James R, White, Peter
Published in Gigascience (05.04.2021)
Published in Gigascience (05.04.2021)
Get full text
Journal Article
Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study
Nicolau, Stefan, Malhotra, Jyoti, Kaler, Maryann, Magistrado-Coxen, Pamela, Iammarino, Megan A., Reash, Natalie F., Frair, Emma C., Wijeratne, Saranga, Kelly, Benjamin J., White, Peter, Lowes, Linda P., Waldrop, Megan A., Flanigan, Kevin M.
Published in Journal of neuromuscular diseases (30.04.2024)
Published in Journal of neuromuscular diseases (30.04.2024)
Get full text
Journal Article
Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement
Miller, Katherine E., Wheeler, Gregory, LaHaye, Stephanie, Schieffer, Kathleen M., Cearlock, Sydney, Venkata, Lakshmi Prakruthi Rao, Bravo, Alejandro Otero, Grischow, Olivia E., Kelly, Benjamin J., White, Peter, Pierson, Christopher R., Boué, Daniel R., Koo, Selene C., Klawinski, Darren, Ranalli, Mark A., Shaikhouni, Ammar, Salloum, Ralph, Shatara, Margaret, Leonard, Jeffrey R., Wilson, Richard K., Cottrell, Catherine E., Mardis, Elaine R., Koboldt, Daniel C.
Published in Frontiers in oncology (13.07.2022)
Published in Frontiers in oncology (13.07.2022)
Get full text
Journal Article