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Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
Rips J, Halstuk O, Fuchs A, Lang Z, Sido T, Gershon-Naamat S, Abu-Libdeh B, Edvardson S, Salah S, Breuer O, Hadhud M, Eden S, Simon I, Slae M, Damseh NS, Abu-Libdeh A, Eskin-Schwartz M, Birk OS, Varga J, Schueler-Furman O, Rosenbluh C, Elpeleg O, Yanovsky-Dagan S, Mor-Shaked H, Harel T. Rips J, et al. Among authors: breuer o. Genet Med. 2024 Apr;26(4):101068. doi: 10.1016/j.gim.2024.101068. Epub 2024 Jan 6. Genet Med. 2024. PMID: 38193396
Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia.
Gileles-Hillel A, Mor-Shaked H, Shoseyov D, Reiter J, Tsabari R, Hevroni A, Cohen-Cymberknoh M, Amirav I, Brammli-Greenberg S, Horani A, Kerem E, Breuer O. Gileles-Hillel A, et al. Among authors: breuer o. ERJ Open Res. 2020 Dec 21;6(4):00213-2020. doi: 10.1183/23120541.00213-2020. eCollection 2020 Oct. ERJ Open Res. 2020. PMID: 33447612 Free PMC article.
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
Ta-Shma A, Hjeij R, Perles Z, Dougherty GW, Abu Zahira I, Letteboer SJF, Antony D, Darwish A, Mans DA, Spittler S, Edelbusch C, Cindrić S, Nöthe-Menchen T, Olbrich H, Stuhlmann F, Aprea I, Pennekamp P, Loges NT, Breuer O, Shaag A, Rein AJJT, Gulec EY, Gezdirici A, Abitbul R, Elias N, Amirav I, Schmidts M, Roepman R, Elpeleg O, Omran H. Ta-Shma A, et al. Among authors: breuer o. PLoS Genet. 2018 Aug 27;14(8):e1007602. doi: 10.1371/journal.pgen.1007602. eCollection 2018 Aug. PLoS Genet. 2018. PMID: 30148830 Free PMC article.
71 results