Diagnostic yield of chromosomal microarray and trio whole exome sequencing in congenital brain anomalies by E. A. Fonova, A. A. Kashevarova, M. E. Lopatkina, A. A. Sivtsev, A. A. Zarubin, V. V. Demeneva, G. N. Seitova, L. I. Minaycheva, O. A. Salyukova, S. V. Fadyushina, V. V. Petrova, E. O. Belyaeva, L. P. Nazarenko, I. N. Lebedev

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Combined whole exome sequencing and chromosomal microarray analysis improve clinical interpretation of genomic variants in patients with intellectual disability by A. A. Kashevarova, E. O. Belyaeva, E. A. Fonova, M. E. Lopatkina, O. Y. Vasilyeva, D. A. Fedotov, A. A. Zarubin, A. A. Sivtsev, V. V. Demeneva, O. A. Salyukova, V. V. Petrova, S. V. Fadiushina, L. I. Minaycheva, G. N. Seitova, L. P. Nazarenko, I. N. Lebedev

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Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B... by D.I. Zhigalina, A.A. Malakhova, O.Yu. Vasilyeva, E.V. Grigor'eva, A.A. Sivtsev, N.A. Kolesnikov, M.E. Lopatkina, R.R. Savchenko, I.Zh. Zhalsanova, A.E. Postrigan', A.A. Zarubin, T.V. Nikitina, A.O. Bueverov, P.O. Bogomolov, S.M. Zakian, N.A. Skryabin

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