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Page 1
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. Among authors: conrad df. 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
Genomic study of TEX15 variants: prevalence and allelic heterogeneity in men with spermatogenic failure.
Qureshi S, Hardy JJ, Pombar C, Berman AJ, Malcher A, Gingrich T, Hvasta R, Kuong J, Munyoki S, Hwang K, Orwig KE, Ahmed J, Olszewska M, Kurpisz M, Conrad DF, Jaseem Khan M, Yatsenko AN. Qureshi S, et al. Among authors: conrad df. Front Genet. 2023 May 10;14:1134849. doi: 10.3389/fgene.2023.1134849. eCollection 2023. Front Genet. 2023. PMID: 37234866 Free PMC article.
C19ORF84 connects piRNA and DNA methylation machineries to defend the mammalian germ line.
Zoch A, Konieczny G, Auchynnikava T, Stallmeyer B, Rotte N, Heep M, Berrens RV, Schito M, Kabayama Y, Schöpp T, Kliesch S, Houston B, Nagirnaja L, O'Bryan MK, Aston KI, Conrad DF, Rappsilber J, Allshire RC, Cook AG, Tüttelmann F, O'Carroll D. Zoch A, et al. Among authors: conrad df. Mol Cell. 2024 Mar 21;84(6):1021-1035.e11. doi: 10.1016/j.molcel.2024.01.014. Epub 2024 Feb 14. Mol Cell. 2024. PMID: 38359823 Free article.
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: conrad df. 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.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Dortenzio V, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad DF, O'Donnell-Luria A, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. Among authors: conrad df. HGG Adv. 2024 Apr 11;5(2):100273. doi: 10.1016/j.xhgg.2024.100273. Epub 2024 Jan 30. HGG Adv. 2024. PMID: 38297832 Free PMC article.
119 results