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A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.
Okutman O, Muller J, Skory V, Garnier JM, Gaucherot A, Baert Y, Lamour V, Serdarogullari M, Gultomruk M, Röpke A, Kliesch S, Herbepin V, Aknin I, Benkhalifa M, Teletin M, Bakircioglu E, Goossens E, Charlet-Berguerand N, Bahceci M, Tüttelmann F, Viville S. Okutman O, et al. Among authors: skory v. J Assist Reprod Genet. 2017 May;34(5):683-694. doi: 10.1007/s10815-017-0900-z. Epub 2017 Apr 11. J Assist Reprod Genet. 2017. PMID: 28401488 Free PMC article.
Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny.
Gilet JG, Ivanova EL, Trofimova D, Rudolf G, Meziane H, Broix L, Drouot N, Courraud J, Skory V, Voulleminot P, Osipenko M, Bahi-Buisson N, Yalcin B, Birling MC, Hinckelmann MV, Kwok BH, Allingham JS, Chelly J. Gilet JG, et al. Among authors: skory v. Hum Mol Genet. 2020 Mar 27;29(5):766-784. doi: 10.1093/hmg/ddz316. Hum Mol Genet. 2020. PMID: 31919497 Free PMC article.
TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.
Ivanova EL, Gilet JG, Sulimenko V, Duchon A, Rudolf G, Runge K, Collins SC, Asselin L, Broix L, Drouot N, Tilly P, Nusbaum P, Vincent A, Magnant W, Skory V, Birling MC, Pavlovic G, Godin JD, Yalcin B, Hérault Y, Dráber P, Chelly J, Hinckelmann MV. Ivanova EL, et al. Among authors: skory v. Nat Commun. 2019 May 13;10(1):2129. doi: 10.1038/s41467-019-10081-8. Nat Commun. 2019. PMID: 31086189 Free PMC article.