Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: KMT2D: 14122G>A; Ala4708Thr
Marazioti, Antonia A; Krontira, Anthi C AC; Behrend, Sabine J SJ; Giotopoulou, Georgia A GA; Ntaliarda, Giannoula G; Blanquart, Christophe C; Bayram, Hasan H; Iliopoulou, Marianthi M; Vreka, Malamati M; Trassl, Lilith L; Pepe, Mario A A MAA; Hackl, Caroline M CM; Klotz, Laura V LV; Weiss, Stefanie A I SAI; Koch, Ina I; Lindner, Michael M; Hatz, Rudolph A RA; Behr, Juergen J; Wagner, Darcy E DE; Papadaki, Helen H; Antimisiaris, Sophia G SG; Jean, Didier D; Deshayes, Sophie S; Grégoire, Marc M; Kayalar, Özgecan Ö; Mortazavi, Deniz D; Dilege, Şükrü Ş; Tanju, Serhan S; Erus, Suat S; Yavuz, Ömer Ö; Bulutay, Pınar P; Fırat, Pınar P; Psallidas, Ioannis I; Spella, Magda M; Giopanou, Ioanna I; Lilis, Ioannis I; Lamort, Anne-Sophie AS; Stathopoulos, Georgios T GT
Publication Date: 2022-02-07
Variant appearance in text: KMT2D: 14122G>A; A4708T
Marazioti, Antonia A; Krontira, Anthi C AC; Behrend, Sabine J SJ; Giotopoulou, Georgia A GA; Ntaliarda, Giannoula G; Blanquart, Christophe C; Bayram, Hasan H; Iliopoulou, Marianthi M; Vreka, Malamati M; Trassl, Lilith L; Pepe, Mario A A MAA; Hackl, Caroline M CM; Klotz, Laura V LV; Weiss, Stefanie A I SAI; Koch, Ina I; Lindner, Michael M; Hatz, Rudolph A RA; Behr, Juergen J; Wagner, Darcy E DE; Papadaki, Helen H; Antimisiaris, Sophia G SG; Jean, Didier D; Deshayes, Sophie S; Grégoire, Marc M; Kayalar, Özgecan Ö; Mortazavi, Deniz D; Dilege, Şükrü Ş; Tanju, Serhan S; Erus, Suat S; Yavuz, Ömer Ö; Bulutay, Pınar P; Fırat, Pınar P; Psallidas, Ioannis I; Spella, Magda M; Giopanou, Ioanna I; Lilis, Ioannis I; Lamort, Anne-Sophie AS; Stathopoulos, Georgios T GT
Publication Date: 2021-12-13
Variant appearance in text: KMT2D: 14122G>A; A4708T
Adult-type granulosa cell tumor of the ovary: a FOXL2-centric disease.
The Journal Of Pathology. Clinical Research
Pilsworth, Jessica A JA; Cochrane, Dawn R DR; Neilson, Samantha J SJ; Moussavi, Bahar H BH; Lai, Daniel D; Munzur, Aslı D AD; Senz, Janine J; Wang, Yi Kan YK; Zareian, Sina S; Bashashati, Ali A; Wong, Adele A; Keul, Jacqueline J; Staebler, Annette A; van Meurs, Hannah S HS; Horlings, Hugo M HM; Kommoss, Stefan S; Kommoss, Friedrich F; Oliva, Esther E; Färkkilä, Anniina Em AE; Gilks, Blake B; Huntsman, David G DG
Adult-type granulosa cell tumor of the ovary: a FOXL2-centric disease.
The Journal Of Pathology. Clinical Research
Pilsworth, Jessica A JA; Cochrane, Dawn R DR; Neilson, Samantha J SJ; Moussavi, Bahar H BH; Lai, Daniel D; Munzur, Aslı D AD; Senz, Janine J; Wang, Yi Kan YK; Zareian, Sina S; Bashashati, Ali A; Wong, Adele A; Keul, Jacqueline J; Staebler, Annette A; van Meurs, Hannah S HS; Horlings, Hugo M HM; Kommoss, Stefan S; Kommoss, Friedrich F; Oliva, Esther E; Färkkilä, Anniina Em AE; Gilks, Blake B; Huntsman, David G DG