Pan-tumor survey of ROS1 fusions detected by next-generation RNA and whole transcriptome sequencing
Nagasaka, Misako, Zhang, Shannon S, Baca, Yasmine, Xiu, Joanne, Nieva, Jorge, Vanderwalde, Ari, Swensen, Jeffrey J, Spetzler, David, Korn, Wolfgang Michael, Raez, Luis E, Liu, Stephen V, Ou, Sai-Hong Ignatius
Published in BMC cancer (18.10.2023)
Published in BMC cancer (18.10.2023)
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Pan-tumor survey of RET fusions as detected by next-generation RNA sequencing identified RET fusion positive colorectal carcinoma as a unique molecular subset
Nagasaka, Misako, Brazel, Danielle, Baca, Yasmine, Xiu, Joanne, Al-Hallak, Mohammed Najeeb, Kim, Chul, Nieva, Jorge, Swensen, Jeffrey J., Spetzler, David, Korn, Wolfgang Michael, Socinski, Mark A., Raez, Luis E., Halmos, Balazs, Ou, Sai-Hong Ignatius
Published in Translational oncology (01.10.2023)
Published in Translational oncology (01.10.2023)
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Identification of Novel CDH1-NRG2α and F11R-NRG2α Fusions in NSCLC Plus Additional Novel NRG2α Fusions in Other Solid Tumors by Whole Transcriptome Sequencing
Ou, Sai-Hong Ignatius, Xiu, Joanne, Nagasaka, Misako, Xia, Bing, Zhang, Shannon S., Zhang, Qing, Swensen, Jeffrey J., Spetzler, David, Korn, Wolfgang Michael, Zhu, Viola W., Liu, Stephen V.
Published in JTO clinical and research reports (01.02.2021)
Published in JTO clinical and research reports (01.02.2021)
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Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency
Rope, Alan F., Wang, Kai, Evjenth, Rune, Xing, Jinchuan, Johnston, Jennifer J., Swensen, Jeffrey J., Johnson, W. Evan, Moore, Barry, Huff, Chad D., Bird, Lynne M., Carey, John C., Opitz, John M., Stevens, Cathy A., Jiang, Tao, Schank, Christa, Fain, Heidi Deborah, Robison, Reid, Dalley, Brian, Chin, Steven, South, Sarah T., Pysher, Theodore J., Jorde, Lynn B., Hakonarson, Hakon, Lillehaug, Johan R., Biesecker, Leslie G., Yandell, Mark, Arnesen, Thomas, Lyon, Gholson J.
Published in American journal of human genetics (15.07.2011)
Published in American journal of human genetics (15.07.2011)
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Noncontinuously Binding Loop-Out Primers for Avoiding Problematic DNA Sequences in PCR and Sanger Sequencing
Sumner, Kelli, Swensen, Jeffrey J, Procter, Melinda, Jama, Mohamed, Wooderchak-Donahue, Whitney, Lewis, Tracey, Fong, Michael, Hubley, Lindsey, Schwarz, Monica, Ha, Youna, Paul, Eleri, Brulotte, Benjamin, Lyon, Elaine, Bayrak-Toydemir, Pinar, Mao, Rong, Pont-Kingdon, Genevieve, Best, D. Hunter
Published in The Journal of molecular diagnostics : JMD (01.09.2014)
Published in The Journal of molecular diagnostics : JMD (01.09.2014)
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Journal Article
Using VAAST to Identify an X-linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency
Rope, Alan F., Wang, Kai, Evjenth, Rune, Xing, Jinchuan, Johnston, Jennifer J., Swensen, Jeffrey J., Johnson, W. Evan, Moore, Barry, Huff, Chad D., Bird, Lynne M., Carey, John C., Opitz, John M., Stevens, Cathy A., Jiang, Tao, Schank, Christa, Fain, Heidi Deborah, Robison, Reid, Dalley, Brian, Chin, Steven, South, Sarah T., Pysher, Theodore J., Jorde, Lynn B., Hakonarson, Hakon, Lillehaug, Johan R., Biesecker, Leslie G., Yandell, Mark, Arnesen, Thomas, Lyon, Gholson J.
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes
Vaughn, Cecily P, Robles, Jorge, Swensen, Jeffrey J, Miller, Christine E, Lyon, Elaine, Mao, Rong, Bayrak-Toydemir, Pinar, Samowitz, Wade S
Published in Human mutation (01.05.2010)
Published in Human mutation (01.05.2010)
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Avoidance of pseudogene interference in the detection of 3′ deletions in PMS2
Vaughn, Cecily P., Hart, Kimberly J., Samowitz, Wade S., Swensen, Jeffrey J.
Published in Human mutation (01.09.2011)
Published in Human mutation (01.09.2011)
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The frequency of previously undetectable deletions involving 3′ Exons of the PMS2 gene
Vaughn, Cecily P., Baker, Christine L., Samowitz, Wade S., Swensen, Jeffrey J.
Published in Genes chromosomes & cancer (01.01.2013)
Published in Genes chromosomes & cancer (01.01.2013)
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Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies
Walter, Andrew W., Ennis, Sara, Best, Hunter, Vaughn, Cecily P., Swensen, Jeffrey J., Openshaw, Amanda, Gripp, Karen W.
Published in Pediatric blood & cancer (01.11.2013)
Published in Pediatric blood & cancer (01.11.2013)
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Sickle cell disease resulting from uniparental disomy in a child who inherited sickle cell trait
Swensen, Jeffrey J., Agarwal, Archana M., Esquilin, Jose M., Swierczek, Sabina, Perumbeti, Ajay, Hussey, Dottie, Lee, Margaret, Joiner, Clinton H., Pont-Kingdon, Genevieve, Lyon, Elaine, Prchal, Josef T.
Published in Blood (14.10.2010)
Published in Blood (14.10.2010)
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Journal Article
A new genomic mechanism leading to cri-du-chat syndrome
South, Sarah T., Swensen, Jeffrey J., Maxwell, Teresa, Rope, Alan, Brothman, Arthur R., Chen, Zhong
Published in American journal of medical genetics. Part A (15.12.2006)
Published in American journal of medical genetics. Part A (15.12.2006)
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Journal Article
Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period
Ridge, Perry G, Miller, Christine, Bayrak-Toydemir, Pinar, Best, D Hunter, Mao, Rong, Swensen, Jeffrey J, Lyon, Elaine, Voelkerding, Karl V
Published in Journal of clinical bioinformatics (23.01.2013)
Published in Journal of clinical bioinformatics (23.01.2013)
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Detection of large rearrangements in the cystic fibrosis transmembrane conductance regulator gene by multiplex ligation-dependent probe amplification assay when sequencing fails to detect two disease-causing mutations
Svensson, Annika M, Chou, Lan-Szu, Miller, Christine E, Robles, Jorge A, Swensen, Jeffrey J, Voelkerding, Karl V, Mao, Rong, Lyon, Elaine
Published in Genetic testing and molecular biomarkers (01.04.2010)
Published in Genetic testing and molecular biomarkers (01.04.2010)
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Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1
Swensen, J J, Keyser, J, Coffin, C M, Biegel, J A, Viskochil, D H, Williams, M S
Published in Journal of medical genetics (01.01.2009)
Published in Journal of medical genetics (01.01.2009)
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Journal Article
Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies: Constitutional Mismatch Repair Deficiency in Childhood
Walter, Andrew W., Ennis, Sara, Best, Hunter, Vaughn, Cecily P., Swensen, Jeffrey J., Openshaw, Amanda, Gripp, Karen W.
Published in Pediatric blood & cancer (01.11.2013)
Published in Pediatric blood & cancer (01.11.2013)
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Journal Article
Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency
Rope, Alan F, Wang, Kai, Evjenth, Rune, Xing, Jinchuan, Johnston, Jennifer J, Swensen, Jeffrey J, Johnson, Evan W, Moore, Barry, Huff, Chad D, Bird, Lynne M, Carey, John C, Opitz, John M, Stevens, Cathy A, Schank, Christa, Fain, Deborah Heidi, Robison, Reid, Dalley, Brian, Chin, Steven, South, Sarah T, Pysher, Theodore J, Jorde, Lynn B, Hakonarson, Hakon, Lillehaug, Johan R, Biesecker, Leslie G, Yandell, Mark, Arnesen, Thomas, Lyon, Gholson J
Published in Genome biology (19.09.2011)
Published in Genome biology (19.09.2011)
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Journal Article
Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency
Rope, Alan F, Wang, Kai, Evjenth, Rune, Xing, Jinchuan, Johnston, Jennifer J, Swensen, Jeffrey J, Johnson, W Evan, Moore, Barry, Huff, Chad D, Bird, Lynne M, Carey, John C, Opitz, John M, Stevens, Cathy A, Schank, Christa, Fain, Heidi Deborah, Robison, Reid, Dalley, Brian, Chin, Steven, South, Sarah T, Pysher, Theodore J, Jorde, Lynn B, Hakonarson, Hakon, Lillehaug, Johan R, Biesecker, Leslie G, Yandell, Mark, Arnesen, Thomas, Lyon, Gholson J
Published in Genome biology (19.09.2011)
Published in Genome biology (19.09.2011)
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