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Aneuploidy detection in pooled polar bodies using rapid nanopore sequencing.
Madritsch S, Arnold V, Haider M, Bosenge J, Pfeifer M, Weil B, Zechmeister M, Hengstschläger M, Neesen J, Laccone F. Madritsch S, et al. Among authors: neesen j. J Assist Reprod Genet. 2024 May;41(5):1261-1271. doi: 10.1007/s10815-024-03108-7. Epub 2024 Apr 20. J Assist Reprod Genet. 2024. PMID: 38642269 Free PMC article.
Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.
Frohne A, Vrabel S, Laccone F, Neesen J, Roesch S, Dossena S, Schoefer C, Frei K, Parzefall T. Frohne A, et al. Among authors: neesen j. Eur Arch Otorhinolaryngol. 2024 Jul;281(7):3577-3586. doi: 10.1007/s00405-024-08492-5. Epub 2024 Feb 24. Eur Arch Otorhinolaryngol. 2024. PMID: 38400873 Free PMC article.
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.
Frohne A, Koenighofer M, Cetin H, Nieratschker M, Liu DT, Laccone F, Neesen J, Nemec SF, Schwarz-Nemec U, Schoefer C, Avraham KB, Frei K, Grabmeier-Pfistershammer K, Kratzer B, Schmetterer K, Pickl WF, Parzefall T. Frohne A, et al. Among authors: neesen j. Hum Genet. 2023 Aug;142(8):1077-1089. doi: 10.1007/s00439-022-02506-0. Epub 2022 Nov 29. Hum Genet. 2023. PMID: 36445457 Free PMC article.
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.
Smogavec M, Gerykova Bujalkova M, Lehner R, Neesen J, Behunova J, Yerlikaya-Schatten G, Reischer T, Altmann R, Weis D, Duba HC, Laccone F. Smogavec M, et al. Among authors: neesen j. Eur J Hum Genet. 2022 Apr;30(4):428-438. doi: 10.1038/s41431-021-01012-7. Epub 2022 Jan 1. Eur J Hum Genet. 2022. PMID: 34974531 Free PMC article.
63 results