Article
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.
The Journal of allergy and clinical immunology - 1 Oct 2022
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, Holland Steven M, Walkiewicz Magdalena A
Abstract excerpt
BACKGROUND: Prospective genetic evaluation of patients at this referral research hospital presents clinical research challenges. OBJECTIVES: This study sought not only a single-gene explanation for participants' immune-related presentations, but viewed each participant holistically, with the potential to have multiple genetic contributions to their immune phenotype and other heritable comorbidities relevant to...
