eP083: Chromosomal microarray analysis as a supplement to exome sequencing in pediatric patients with suspected inborn errors of immunity
Beers, Breanna, Similuk, Morgan, Yan, Jia, Kamen, Michael, Setzer, Michael, Jodarski, Colleen, Seifert, Bryce, Ghosh, Rajarshi, Duncan, Rylee, Hunt, Devin, Mixer, Madison, Jevtich, Kathleen, Yu, Yunting, Franco, Luis, Holland, Steven, Walkiewicz-Yvon, Magdalena
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Journal Article
eP133: Genome sequencing and chromosomal microarray as a tool for evaluating phenotypic variability in individuals with X and Y chromosome variations
Gore, Rachel, Similuk, Morgan, Yan, Jia, Setzer, Michael, Kamen, Michael, Jodarski, Colleen, Dakic, Aleksandra, Torres, Erin, Blumenthal, Jonathan, Duncan, Rylee, Hunt, Devin, Mixer, Madison, Beers, Breanna, Yu, Yunting, Jevtich, Kathleen, Seifert, Bryce, Ghosh, Rajarshi, Raznahan, Armin, Walkiewicz-Yvon, Magdalena
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Journal Article
eP400: Utility of genome sequencing in CNV identification in an immune disorders cohort
Seifert, Bryce, Similuk, Morgan, Setzer, Michael, Yan, Jia, Kamen, Michael, Jodarski, Colleen, Jamal, Leila, Jevtich, Kathleen, Yu, Yunting, Duncan, Rylee, Hunt, Devin, Mixer, Madison, Beers, Breanna, Kuram, Vasu, Lack, Justin, Karlins, Eric, Oler, Andrew, Ghosh, Rajarshi, Bergerson, Jenna, Freeman, Alexandra, Fuss, Ivan, Lionakis, Michail, Strober, Warren, Uzel, Gulbu, Zerbe, Christa, Holland, Steven, Bi, Weimin, Franco, Luis, Walkiewicz-Yvon, Magdalena
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Journal Article
The contribution of rare copy number variants in FAS toward pathogenesis of autoimmune lymphoproliferative syndrome
Jevtich, Kathleen, Price, Susan, Similuk, Morgan, Kulm, Elaine, Yan, Jia, Setzer, Michael, Jamal, Leila, Franco, Luis M., Ghosh, Rajarshi, Walkiewicz, Magdalena, Rao, V. Koneti
Published in Blood advances (12.07.2022)
Published in Blood advances (12.07.2022)
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Journal Article
Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity
Beers, Breanna J, Similuk, Morgan N, Ghosh, Rajarshi, Seifert, Bryce A, Jamal, Leila, Kamen, Michael, Setzer, Michael R, Jodarski, Colleen, Duncan, Rylee, Hunt, Devin, Mixer, Madison, Cao, Wenjia, Bi, Weimin, Veltri, Daniel, Karlins, Eric, Zhang, Lingwen, Li, Zhiwen, Oler, Andrew J, Jevtich, Kathleen, Yu, Yunting, Hullfish, Haley, Bielekova, Bibiana, Frischmeyer-Guerrerio, Pamela, Dang Do, An, Huryn, Laryssa A, Olivier, Kenneth N, Su, Helen C, Lyons, Jonathan J, Zerbe, Christa S, Rao, V Koneti, Keller, Michael D, Freeman, Alexandra F, Holland, Steven M, Franco, Luis M, Walkiewicz, Magdalena A, Yan, Jia
Published in Frontiers in immunology (05.05.2023)
Published in Frontiers in immunology (05.05.2023)
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Journal Article
The Contribution of Rare Copy Number Variants in FAS Towards Pathogenesis of Autoimmune Lymphoproliferative Syndrome
Jevtich, Kathleen C, Price, Susan, Similuk, Morgan N, Kulm, Elaine M, Yan, Jia, Setzer, Michael R, Jamal, Leila, Franco, Luis M, Ghosh, Rajarshi, Walkiewicz, Magdalena A, Rao, V Koneti
Published in Blood advances (27.04.2022)
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Published in Blood advances (27.04.2022)
Journal Article