Search Results - "Similuk, Morgan N"

Exome sequencing study in a clinical research setting finds general acceptance of study returning secondary genomic findings with little decisional conflict by Similuk, Morgan N., Yan, Jia, Setzer, Michael R., Jamal, Leila, Littel, Patricia, Lenardo, Michael, Su, Helen C.

“…The most appropriate strategies for managing secondary genomic findings (SF) in clinical research are being developed and evaluated. We surveyed patients at…”
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Life with a Primary Immune Deficiency: a Systematic Synthesis of the Literature and Proposed Research Agenda by Similuk, Morgan N., Wang, Angela, Lenardo, Michael J., Erby, Lori H.

“…Purpose The clinical immunology literature is punctuated with research on psychosocial dimensions of illness. Studies investigating the lived experiences and…”
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Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity by 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

“…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…”
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Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations by Similuk, Morgan N, Yan, Jia, Ghosh, Rajarshi, Oler, Andrew J, Franco, Luis M, Setzer, Michael R, Kamen, Michael, Jodarski, Colleen, DiMaggio, Thomas, Davis, Joie, Gore, Rachel, Jamal, Leila, Borges, Adrienne, Gentile, Nicole, Niemela, Julie, Lowe, Chenery, Jevtich, Kathleen, Yu, Yunting, Hullfish, Haley, Hsu, Amy P, Hong, Celine, Littel, Patricia, Seifert, Bryce A, Milner, Joshua, Johnston, Jennifer J, Cheng, Xi, Li, Zhiwen, Veltri, Daniel, Huang, Ke, Kaladi, Krishnaveni, Barnett, Jason, Zhang, Lingwen, Vlasenko, Nikita, Fan, Yongjie, Karlins, Eric, Ganakammal, Satishkumar Ranganathan, Gilmore, Robert, Tran, Emily, Yun, Alvin, Mackey, Joseph, Yazhuk, Svetlana, Lack, Justin, Kuram, Vasudev, Cao, Wenjia, Huse, Susan, Frank, Karen, Fahle, Gary, Rosenzweig, Sergio, Su, Yan, Hwang, SuJin, Bi, Weimin, Bennett, John, Myles, Ian A, De Ravin, Suk See, Fuss, Ivan, Strober, Warren, Bielekova, Bibiana, Almeida de Jesus, Adriana, Goldbach-Mansky, Raphaela, Williamson, Peter, Kumar, Kelly, Dempsy, Caeden, Frischmeyer-Guerrerio, Pamela, Fisch, Robin, Bolan, Hyejeong, Metcalfe, Dean D, Komarow, Hirsh, Carter, Melody, Druey, Kirk M, Sereti, Irini, Dropulic, Lesia, Klion, Amy D, Khoury, Paneez, O' Connell, Elise M, Holland-Thomas, Nicole C, Brown, Thomas, McDermott, David H, Murphy, Philip M, Bundy, Vanessa, Keller, Michael D, Peng, Christine, Kim, Helen, Norman, Stephanie, Delmonte, Ottavia M, Kang, Elizabeth, Su, Helen C, Malech, Harry, Freeman, Alexandra, Zerbe, Christa, Uzel, Gulbu, Bergerson, Jenna R E, Rao, V Koneti, Olivier, Kenneth N, Lyons, Jonathan J, Lisco, Andrea, Cohen, Jeffrey I, Lionakis, Michail S, Biesecker, Leslie G, Xirasagar, Sandhya, Notarangelo, Luigi D

“…Prospective genetic evaluation of patients at this referral research hospital presents clinical research challenges. This study sought not only a single-gene…”
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Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy by Ferre, Elise M N, Rose, Stacey R, Rosenzweig, Sergio D, Burbelo, Peter D, Romito, Kimberly R, Niemela, Julie E, Rosen, Lindsey B, Break, Timothy J, Gu, Wenjuan, Hunsberger, Sally, Browne, Sarah K, Hsu, Amy P, Rampertaap, Shakuntala, Swamydas, Muthulekha, Collar, Amanda L, Kong, Heidi H, Lee, Chyi-Chia Richard, Chascsa, David, Simcox, Thomas, Pham, Angela, Bondici, Anamaria, Natarajan, Mukil, Monsale, Joseph, Kleiner, David E, Quezado, Martha, Alevizos, Ilias, Moutsopoulos, Niki M, Yockey, Lynne, Frein, Cathleen, Soldatos, Ariane, Calvo, Katherine R, Adjemian, Jennifer, Similuk, Morgan N, Lang, David M, Stone, Kelly D, Uzel, Gulbu, Kopp, Jeffrey B, Bishop, Rachel J, Holland, Steven M, Olivier, Kenneth N, Fleisher, Thomas A, Heller, Theo, Winer, Karen K, Lionakis, Michail S

“…Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous mutations…”
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Clinical Exome Sequencing of 1000 Families with Complex Immune Phenotypes: Towards comprehensive genomic evaluations by Similuk, Morgan N., Yan, Jia, Ghosh, Rajarshi, Oler, Andrew J., Franco, Luis M., Setzer, Michael, Kamen, Michael, Jodarski, Colleen, DiMaggio, Thomas, Davis, Joie, Gore, Rachel, Jamal, Leila, Borges, Adrienne, Gentile, Nicole, Niemela, Julie, Lowe, Chenery, Jevtich, Kathleen, Yu, Yunting, Hullfish, Haley, Hsu, Amy P., Hong, Celine, Littel, Patricia, Seifert, Bryce A., Milner, Joshua, Johnston, Jennifer J., Cheng, Xi, Li, Zhiwen, Veltri, Daniel, Huang, Ke, Kaladi, Krishnaveni, Barnett, Jason, Zhang, Lingwen, Vlasenko, Nikita, Fan, Yongjie, Karlins, Eric, Ganakammal, Satishkumar Ranganathan, Gilmore, Robert, Tran, Emily, Yun, Alvin, Mackey, Joseph, Yazhuk, Svetlana, Lack, Justin, Kuram, Vasu, Cao, Wen, Huse, Susan, Frank, Karen, Fahle, Gary, Rosenzweig, Sergio, Su, Yan, Hwang, SuJin, Bi, Weimin, Bennett, John, Myles, Ian A., De Ravin, Suk See, Fuss, Ivan, Strober, Warren, Bielekova, Bibiana, de Jesus, Adriana Almeida, Goldbach-Mansky, Raphaela, Williamson, Peter, Kumar, Kelly, Dempsy, Caeden, Frischmeyer-Guerrerio, Pamela, Eisch, Robin, Bolan, Hyejeong, Metcalfe, Dean D., Komarow, Hirsh, Carter, Melody, Druey, Kirk M., Sereti, Irini, Dropulic, Lesia, Klion, Amy D., Khoury, Paneez, O’ Connell, Elise M., Holland-Thomas, Nicole C., Brown, Thomas, McDermott, David H., Murphy, Philip M., Bundy, Vanessa, Keller, Michael D., Peng, Christine, Kim, Helen, Norman, Stephanie, Delmonte, Ottavia M., Kang, Elizabeth, Su, Helen C., Malech, Harry, Freeman, Alexandra, Zerbe, Christa, Uzel, Gulbu, Bergerson, Jenna R.E., Rao, V. Koneti, Olivier, Kenneth N., Lyons, Jonathan J., Lisco, Andrea, Cohen, Jeffrey I., Lionakis, Michail S., Biesecker, Leslie G., Xirasagar, Sandhya, Notarangelo, Luigi

“…Comprehensive exome analysis has diagnostic and clinical utility: one-quarter of the molecular diagnoses in this study were found in genes not associated with…”
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The Contribution of Rare Copy Number Variants in FAS Towards Pathogenesis of Autoimmune Lymphoproliferative Syndrome by 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

“…Autoimmune lymphoproliferative syndrome (ALPS) is characterized by chronic nonmalignant lymphadenopathy, splenomegaly, cytopenias, and other autoimmune…”
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