Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Bryce A Seifert"'
Autor:
Isabella G. Larsen, Rachel Gore Moses, Bryce A. Seifert, Siyuan Liu, Samuel Li, Andrew J. Oler, Elizabeth Levitis, Lukas Schaffer, Rylee Duncan, Colleen Jodarski, Michael Kamen, Jia Yan, François M. Lalonde, Rajarshi Ghosh, Erin Torres, Liv S. Clasen, Jonathan Blumenthal, Morgan Similuk, Armin Raznahan, Magdalena A. Walkiewicz
Publikováno v:
Biological Psychiatry Global Open Science, Vol 4, Iss 6, Pp 100391- (2024)
Background: X chromosome parent of origin (POX) has been proposed as a source of phenotypic variation within sex chromosome aneuploidies such as Klinefelter syndrome (XXY/KS) and between XX and XY individuals. However, previous studies have yielded c
Externí odkaz:
https://doaj.org/article/75f5e7341ed143c69b2d4c7abea3e6f4
Autor:
Halyn Orellana, Jia Yan, Alex Paul, Mari Tokita, Yan Ding, Rajarshi Ghosh, Katie L. Lewis, Joie Davis, Leila Jamal, Colleen Jodarski, Morgan Similuk, Nermina Saucier, Zhanyang Zhu, Yihe Wang, Sitao Wu, Jason Ruggieri, NIAID Centralized Sequencing Program Working Group, Helen C. Su, Gulbu Uzel, Shareef Nahas, Megan Cooper, Magdalena A. Walkiewicz, Bryce A. Seifert, Nadjalisse Reynolds-Lallement, Rachel Gore Moses, Michael Gore Moses, Sarah Bannon, Sophie Byers, Ekaterina Damskey, Sruthi Srinivasan, Adrienne Borges, Nicole Gentile
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Gonadal and gonosomal mosaicism describe phenomena in which a seemingly healthy individual carries a genetic variant in a subset of their gonadal tissue or gonadal and somatic tissue(s), respectively, with risk of transmitting the variant to their of
Externí odkaz:
https://doaj.org/article/3117ca222ae44c57838f942448f49e14
Autor:
Breanna J. Beers, Morgan N. Similuk, Rajarshi Ghosh, Bryce A. Seifert, Leila Jamal, Michael Kamen, Michael R. Setzer, Colleen Jodarski, Rylee Duncan, Devin Hunt, Madison Mixer, Wenjia Cao, Weimin Bi, Daniel Veltri, Eric Karlins, Lingwen Zhang, Zhiwen Li, Andrew J. Oler, Kathleen Jevtich, Yunting Yu, Haley Hullfish, Bibiana Bielekova, Pamela Frischmeyer-Guerrerio, An Dang Do, Laryssa A. Huryn, Kenneth N. Olivier, Helen C. Su, Jonathan J. Lyons, Christa S. Zerbe, V. Koneti Rao, Michael D. Keller, Alexandra F. Freeman, Steven M. Holland, Luis M. Franco, Magdalena A. Walkiewicz, Jia Yan
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
PurposeThough copy number variants (CNVs) have been suggested to play a significant role in inborn errors of immunity (IEI), the precise nature of this role remains largely unexplored. We sought to determine the diagnostic contribution of CNVs using
Externí odkaz:
https://doaj.org/article/5a9a5d2c1d2843bb9d22ca82e9ec744f
Autor:
Morgan N. Similuk, Jia Yan, Rajarshi Ghosh, Andrew J. Oler, Luis M. Franco, Michael R. Setzer, Michael Kamen, Colleen Jodarski, Thomas DiMaggio, Joie Davis, Rachel Gore, Leila Jamal, Adrienne Borges, Nicole Gentile, Julie Niemela, Chenery Lowe, Kathleen Jevtich, Yunting Yu, Haley Hullfish, Amy P. Hsu, Celine Hong, Patricia Littel, Bryce A. Seifert, Joshua Milner, Jennifer J. Johnston, Xi Cheng, Zhiwen Li, Daniel Veltri, Ke Huang, Krishnaveni Kaladi, Jason Barnett, Lingwen Zhang, Nikita Vlasenko, Yongjie Fan, Eric Karlins, Satishkumar Ranganathan Ganakammal, Robert Gilmore, Emily Tran, Alvin Yun, Joseph Mackey, Svetlana Yazhuk, Justin Lack, Vasudev Kuram, Wenjia Cao, Susan Huse, Karen Frank, Gary Fahle, Sergio Rosenzweig, Yan Su, SuJin Hwang, Weimin Bi, John Bennett, Ian A. Myles, Suk See De Ravin, Ivan Fuss, Warren Strober, Bibiana Bielekova, Adriana Almeida de Jesus, Raphaela Goldbach-Mansky, Peter Williamson, Kelly Kumar, Caeden Dempsy, Pamela Frischmeyer-Guerrerio, Robin Fisch, Hyejeong Bolan, Dean D. Metcalfe, Hirsh Komarow, Melody Carter, Kirk M. Druey, Irini Sereti, Lesia Dropulic, Amy D. Klion, Paneez Khoury, Elise M. O' Connell, Nicole C. Holland-Thomas, Thomas Brown, David H. McDermott, Philip M. Murphy, Vanessa Bundy, Michael D. Keller, Christine Peng, Helen Kim, Stephanie Norman, Ottavia M. Delmonte, Elizabeth Kang, Helen C. Su, Harry Malech, Alexandra Freeman, Christa Zerbe, Gulbu Uzel, Jenna R.E. Bergerson, V. Koneti Rao, Kenneth N. Olivier, Jonathan J. Lyons, Andrea Lisco, Jeffrey I. Cohen, Michail S. Lionakis, Leslie G. Biesecker, Sandhya Xirasagar, Luigi D. Notarangelo, Steven M. Holland, Magdalena A. Walkiewicz
Publikováno v:
J Allergy Clin Immunol
BACKGROUND: Prospective genetic evaluation of patients at our referral research hospital presents clinical research challenges. OBJECTIVE: This study sought not only a single-gene explanation for participants’ immune-related presentations, but view
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8f8a28d08c3a4960c10b7fc3d195a47
https://doi.org/10.1016/j.jaci.2022.06.009
https://doi.org/10.1016/j.jaci.2022.06.009
Publikováno v:
Stem Cell Research, Vol 23, Iss C, Pp 98-104 (2017)
Early mammalian embryonic cells must maintain a particularly robust DNA repair system, as mutations at this developmental point have detrimental consequences for the organism. How the repair system can be tuned to fulfill such elevated requirements i
Externí odkaz:
https://doaj.org/article/8f0d3d65fc2f46a5a957c0870b0ce81b
Autor:
Bryce A Seifert, David T. Miller, Lina Shao, Daynna J. Wolff, Fady M. Mikhail, Yassmine Akkari, Linda D. Cooley
Publikováno v:
Genetics in Medicine. 23:1818-1829
Chromosomal microarray technologies, including array comparative genomic hybridization and single-nucleotide polymorphism array, are widely applied in the diagnostic evaluation for both constitutional and neoplastic disorders. In a constitutional set
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1f5b3eed7da8ad4a17602687b120e482
https://doi.org/10.1038/s41436-021-01214-w
https://doi.org/10.1038/s41436-021-01214-w
Autor:
Breanna Joy Beers, Morgan Similuk, Rajarshi Ghosh, Bryce A. Seifert, Leila Jamal, Michael Kamen, Michael R. Setzer, Colleen Jodarski, Rylee Duncan, Devin Hunt, Madison Mixer, Wenjia Cao, Weimin Bi, Daniel Veltri, Eric Karlins, Lingwen Zhang, Zhiwen Li, Kathleen Jevtich, Yunting Yu, Haley Hullfish, Bibi Bielekova, Pamela Frischmeyer-Guerrerio, An Dang Do, Laryssa A. Huryn, Kenneth N. Olivier, Helen C. Su, Jonathan J. Lyons, Christa S. Zerbe, V. Koneti Rao, Michael D. Keller, Alexandra F. Freeman, Steven M. Holland, Luis M. Franco, Magdalena A. Walkiewicz, Jia Yan
Purpose: Though copy number variants (CNVs) have been suggested to play a significant role in inborn errors of immunity (IEI), the precise nature of this role remains largely unexplored. Thus, we sought to determine the diagnostic contribution of CNV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::558c04392c5a7dff4430a5cb57a340fb
https://doi.org/10.21203/rs.3.rs-2211010/v1
https://doi.org/10.21203/rs.3.rs-2211010/v1
Autor:
Jason L. Williams, Bryce A. Seifert, Catherine Rehder, Marie T. McDonald, Michael J Campbell, Kristen L. Deak
Publikováno v:
J Pediatr Genet
Cat eye syndrome (CES) is a rare genetic defect, characterized by iris colobomas, preauricular skin tags, and anal malformations. Affecting 1 in 150,000 people, this defect is caused by duplication or triplication of the proximal long (q) arm of chro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e5a2b93f19860c8ac80b4727092b979
https://doi.org/10.1055/s-0039-1701020
https://doi.org/10.1055/s-0039-1701020
Autor:
Gordana, Raca, Caroline, Astbury, Andrea, Behlmann, Mauricio J, De Castro, Scott E, Hickey, Ender, Karaca, Chelsea, Lowther, Erin Rooney, Riggs, Bryce A, Seifert, Erik C, Thorland, Joshua L, Deignan
Publikováno v:
Genetics in Medicine. 25:100316
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eefc8269fe3a923897926e8ff770eac
https://doi.org/10.1016/j.gim.2022.09.017
https://doi.org/10.1016/j.gim.2022.09.017
Autor:
Noreen Moshin, Devin Hunt, Austin J. Jabbour, Paul Nghiem, Alexandra F. Freemam, Jenna R.E. Bergerson, Morgan Similuk, Kristina Lachance, Rima Kulikauskas, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Isaac Brownell
Publikováno v:
Journal of Investigative Dermatology. 142:2839
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d29077add76f8cb71b9200df62e1aaa5
https://doi.org/10.1016/j.jid.2022.08.017
https://doi.org/10.1016/j.jid.2022.08.017