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Jeffrey J Swensen

Showing results (1-10 of 13) with videos related to

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Human Mutation|May 28, 2011
Avoidance of pseudogene interference in the detection of 3' deletions in PMS2Cecily P Vaughn, Kimberly J Hart, Wade S Samowitz, et al.
Genes, Chromosomes & Cancer|September 27, 2012
The frequency of previously undetectable deletions involving 3' Exons of the PMS2 geneCecily P Vaughn, Christine L Baker, Wade S Samowitz, et al.
American Journal of Medical Genetics. Part A|November 15, 2006
A new genomic mechanism leading to cri-du-chat syndromeSarah T South, Jeffrey J Swensen, Teresa Maxwell, et al.
Pediatric Blood & Cancer|June 5, 2013
Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignanciesAndrew W Walter, Sara Ennis, Hunter Best, et al.
Journal of Clinical Bioinformatics|January 25, 2013
Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year periodPerry G Ridge, Christine Miller, Pinar Bayrak-Toydemir, et al.
Human Mutation|March 6, 2010
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenesCecily P Vaughn, Jorge Robles, Jeffrey J Swensen, et al.
Genetic Testing and Molecular Biomarkers|January 12, 2010
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 mutationsAnnika M Svensson, Lan-Szu Chou, Christine E Miller, et al.
Blood|July 3, 2010
Sickle cell disease resulting from uniparental disomy in a child who inherited sickle cell traitJeffrey J Swensen, Archana M Agarwal, Jose M Esquilin, et al.
JTO Clinical and Research Reports|September 30, 2021
Identification of Novel <i>CDH1-NRG2</i>α and <i>F11R-NRG2α</i> Fusions in NSCLC Plus Additional Novel <i>NRG2α</i> Fusions in Other Solid Tumors by Whole Transcriptome SequencingSai-Hong Ignatius Ou, Joanne Xiu, Misako Nagasaka, et al.
BMC Cancer|October 18, 2023
Pan-tumor survey of ROS1 fusions detected by next-generation RNA and whole transcriptome sequencingMisako Nagasaka, Shannon S Zhang, Yasmine Baca, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
Human Mutation|May 28, 2011
Avoidance of pseudogene interference in the detection of 3' deletions in PMS2Cecily P Vaughn, Kimberly J Hart, Wade S Samowitz, et al.
Genes, Chromosomes & Cancer|September 27, 2012
The frequency of previously undetectable deletions involving 3' Exons of the PMS2 geneCecily P Vaughn, Christine L Baker, Wade S Samowitz, et al.
American Journal of Medical Genetics. Part A|November 15, 2006
A new genomic mechanism leading to cri-du-chat syndromeSarah T South, Jeffrey J Swensen, Teresa Maxwell, et al.
Pediatric Blood & Cancer|June 5, 2013
Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignanciesAndrew W Walter, Sara Ennis, Hunter Best, et al.
Journal of Clinical Bioinformatics|January 25, 2013
Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year periodPerry G Ridge, Christine Miller, Pinar Bayrak-Toydemir, et al.
Human Mutation|March 6, 2010
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenesCecily P Vaughn, Jorge Robles, Jeffrey J Swensen, et al.
Genetic Testing and Molecular Biomarkers|January 12, 2010
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 mutationsAnnika M Svensson, Lan-Szu Chou, Christine E Miller, et al.
Blood|July 3, 2010
Sickle cell disease resulting from uniparental disomy in a child who inherited sickle cell traitJeffrey J Swensen, Archana M Agarwal, Jose M Esquilin, et al.
JTO Clinical and Research Reports|September 30, 2021
Identification of Novel <i>CDH1-NRG2</i>α and <i>F11R-NRG2α</i> Fusions in NSCLC Plus Additional Novel <i>NRG2α</i> Fusions in Other Solid Tumors by Whole Transcriptome SequencingSai-Hong Ignatius Ou, Joanne Xiu, Misako Nagasaka, et al.
BMC Cancer|October 18, 2023
Pan-tumor survey of ROS1 fusions detected by next-generation RNA and whole transcriptome sequencingMisako Nagasaka, Shannon S Zhang, Yasmine Baca, et al.
Pageof 2