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Page 1
Undiagnosed RASopathies in infertile men.
Juchnewitsch AG, Pomm K, Dutta A, Tamp E, Valkna A, Lillepea K, Mahyari E, Tjagur S, Belova G, Kübarsepp V, Castillo-Madeen H, Riera-Escamilla A, Põlluaas L, Nagirnaja L, Poolamets O, Vihljajev V, Sütt M, Versbraegen N, Papadimitriou S, McLachlan RI, Jarvi KA, Schlegel PN, Tennisberg S, Korrovits P, Vigh-Conrad K, O'Bryan MK, Aston KI, Lenaerts T, Conrad DF, Kasak L, Punab M, Laan M. Juchnewitsch AG, et al. Among authors: lillepea k. Front Endocrinol (Lausanne). 2024 Apr 9;15:1312357. doi: 10.3389/fendo.2024.1312357. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38654924 Free PMC article.
Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M. Lillepea K, et al. Am J Hum Genet. 2024 May 2;111(5):877-895. doi: 10.1016/j.ajhg.2024.03.013. Epub 2024 Apr 12. Am J Hum Genet. 2024. PMID: 38614076 Free PMC article.
Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management.
Kasak L, Lillepea K, Nagirnaja L, Aston KI, Schlegel PN, Gonçalves J, Carvalho F, Moreno-Mendoza D, Almstrup K, Eisenberg ML, Jarvi KA, O'Bryan MK, Lopes AM, Conrad DF; GEMINI Consortium; Punab M, Laan M. Kasak L, et al. Among authors: lillepea k. Hum Reprod. 2022 Jun 30;37(7):1652-1663. doi: 10.1093/humrep/deac100. Hum Reprod. 2022. PMID: 35535697 Free PMC article.