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ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, Bönnemann CG, Gupta VA, Fardeau M, Böhm J, Laporte J. Lornage X, et al. Acta Neuropathol. 2019 Mar;137(3):501-519. doi: 10.1007/s00401-019-01963-8. Epub 2019 Jan 30. Acta Neuropathol. 2019. PMID: 30701273 Free PMC article.
Generation of a chromosome-level genome assembly for Pacific halibut (Hippoglossus stenolepis) and characterization of its sex-determining genomic region.
Jasonowicz AJ, Simeon A, Zahm M, Cabau C, Klopp C, Roques C, Iampietro C, Lluch J, Donnadieu C, Parrinello H, Drinan DP, Hauser L, Guiguen Y, Planas JV. Jasonowicz AJ, et al. Mol Ecol Resour. 2022 Oct;22(7):2685-2700. doi: 10.1111/1755-0998.13641. Epub 2022 Jun 1. Mol Ecol Resour. 2022. PMID: 35569134 Free PMC article.
Structure of the intergenic spacers in chicken ribosomal DNA.
Dyomin A, Galkina S, Fillon V, Cauet S, Lopez-Roques C, Rodde N, Klopp C, Vignal A, Sokolovskaya A, Saifitdinova A, Gaginskaya E. Dyomin A, et al. Genet Sel Evol. 2019 Oct 26;51(1):59. doi: 10.1186/s12711-019-0501-7. Genet Sel Evol. 2019. PMID: 31655542 Free PMC article.
Genome-wide population affinities and signatures of adaptation in hydruntines, sussemiones and Asian wild asses.
Pan J, Liu X, Baca M, Calvière-Tonasso L, Schiavinato S, Chauvey L, Tressières G, Perdereau A, Aury JM, Oliveira PH, Wincker P, Abdykanova A, Arsuaga JL, Bayarsaikhan J, Belinskiy AB, Carbonell E, Davoudi H, Lira Garrido J, Gilbert AS, Hermes T, Warinner C, Kalmykov AA, Lordkipanidze D, Mackiewicz P, Mohaseb AF, Richter K, Sayfullaev N, Shapiro B, Shnaider S, Southon J, Stefaniak K, Summers GD, van Asperen EN, Vanishvili N, Hill EA, Kuznetsov P, Reinhold S, Hansen S, Mashkour M, Berthon R, Taylor WTT, Houle JL, Hekkala E, Popović D, Orlando L. Pan J, et al. Mol Ecol. 2024 Oct;33(19):e17527. doi: 10.1111/mec.17527. Epub 2024 Sep 16. Mol Ecol. 2024. PMID: 39279684