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Combined whole exome sequencing and chromosomal microarray analysis improve clinical interpretation of genomic variants in patients with intellectual disability

European psychiatry, 2023-03, Vol.66 (S1), p.S887-S887

2023

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A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication

Frontiers in genetics, 2024-03, Vol.15, p.1331066-1331066

2024

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Influence of human peripheral blood samples preprocessing on the quality of Hi-C libraries

Vavilovskiĭ zhurnal genetiki i selekt͡s︡ii, 2023-03, Vol.27 (1), p.83-87

2023

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Expression of the NUP153 and YWHAB genes from their canonical promoters and alternative promoters of the LINE-1 retrotransposon in the placenta of the first trimester of pregnancy

Vavilovskiĭ zhurnal genetiki i selekt͡s︡ii, 2023-03, Vol.27 (1), p.63-71

2023

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Diagnostic yield of chromosomal microarray and trio whole exome sequencing in congenital brain anomalies

European psychiatry, 2023-03, Vol.66 (S1), p.S887-S887

2023

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Comparision of fluorimetric and mass spectrometric methods for Fabry disease newborn screening

Klinicheskaia laboratornaia diagnostika, 2022-04, Vol.67 (4), p.204

2022

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Generation of iPSC line ICGi024-A from human skin fibroblasts of a patient with ring chromosome 18

Stem cell research, 2020-12, Vol.49, p.102076-102076, Article 102076

2020

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Establishment of an induced pluripotent stem cell line (ICGi025-A) from fibroblasts of a patient with 46,XY,r(8)/45,XY,–8 mosaicism

Stem cell research, 2020-12, Vol.49, p.102024-102024, Article 102024

2020

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Generation of Induced Pluripotent Stem Cell Line iTAF15Xsk4 from Fibroblasts of a Patient with Microdeletion at Xq24

Russian journal of developmental biology, 2023-12, Vol.54 (6), p.358-364

2023

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Generation of the induced pluripotent stem cell line, ICAGi002-A, from unaffected carrier megabase scaled duplication involving the CNTN6 gene

Stem cell research, 2019-10, Vol.40, p.101556-101556, Article 101556

2019

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Generation of four iPSC lines from two siblings with a microdeletion at the CNTN6 gene and intellectual disability

Stem cell research, 2019-12, Vol.41, p.101591-101591, Article 101591

2019

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Induced pluripotent stem cell line, ICAGi001-A, derived from human skin fibroblasts of a patient with 2p25.3 deletion and 2p25.3-p23.3 inverted duplication

Stem cell research, 2019-01, Vol.34, p.101377-101377, Article 101377

2019

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Mutliaberrant cell formation caused by exposure to internal densely-ionizing irradiation

Russian journal of genetics, 2004-12, Vol.40 (12), p.1419-1422

2004

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Open, non-comparative phase III clinical study to evaluate the efficacy and safety of sapropterin in patients with phenylketonuria and hyperphenylalaninemia

Vestnik Rossiĭskoĭ akademii medits︠i︡nskih nauk, 2014 (7-8), p.69

2014

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Clinical and genetic analysis of idiopathic intellectual disability based on array comparative genomic hybridization

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova, 2013, Vol.113 (9), p.70

2013

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Characterization of a small supernumerary ring marker derived from chromosome 2 by forward and reverse chromosome painting

American journal of medical genetics, 1999-11, Vol.87 (3), p.217-220

1999

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FISH Diagnostics of Chromosomal Translocation with the Technology of Synthesis of Locus-Specific DNA Probes Based on Long-Range PCR

Russian journal of genetics, 2020-06, Vol.56 (6), p.739-746

2020

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Prevalence of Hereditary Pathology in Altai Republic

Russian journal of genetics, 2004-10, Vol.40 (10), p.1169-1175

2004

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Epidemiology of Congenital Malformations in Gorno-Altaisk, Altai Republic, Russia

Russian journal of genetics, 2004-08, Vol.40 (8), p.932-937

2004

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Multiaberrant cell formation caused by exposure to internal densely-ionizing irradiation

Genetika, 2004-12, Vol.40 (12), p.1709

2004

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Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation

American journal of medical genetics, 1999-07, Vol.85 (2), p.179-182

1999

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A search for mutations in the DIA1 gene in case of hereditary methemoglobinemia type I in the iakut population

Genetika, 2003-06, Vol.39 (6), p.858

2003

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Prevalence of hereditary pathology in Altai Republic

Genetika, 2004-10, Vol.40 (10), p.1417

2004

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Genetic processes in rural populations of the Tomsk region (migration characteristics)

Genetika, 1991-06, Vol.27 (6), p.1084

1991

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Epidemiology of congenital malformations in Gorno-Altaisk, Altai Republic, Russia

Genetika, 2004-08, Vol.40 (8), p.1138

2004

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Combined whole exome sequencing and chromosomal microarray analysis improve clinical interpretation of genomic variants in patients with intellectual disability

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication

Influence of human peripheral blood samples preprocessing on the quality of Hi-C libraries

Expression of the NUP153 and YWHAB genes from their canonical promoters and alternative promoters of the LINE-1 retrotransposon in the placenta of the first trimester of pregnancy

Diagnostic yield of chromosomal microarray and trio whole exome sequencing in congenital brain anomalies

Comparision of fluorimetric and mass spectrometric methods for Fabry disease newborn screening

Generation of iPSC line ICGi024-A from human skin fibroblasts of a patient with ring chromosome 18

Establishment of an induced pluripotent stem cell line (ICGi025-A) from fibroblasts of a patient with 46,XY,r(8)/45,XY,–8 mosaicism

Generation of Induced Pluripotent Stem Cell Line iTAF15Xsk4 from Fibroblasts of a Patient with Microdeletion at Xq24

Generation of the induced pluripotent stem cell line, ICAGi002-A, from unaffected carrier megabase scaled duplication involving the CNTN6 gene

Generation of four iPSC lines from two siblings with a microdeletion at the CNTN6 gene and intellectual disability

Induced pluripotent stem cell line, ICAGi001-A, derived from human skin fibroblasts of a patient with 2p25.3 deletion and 2p25.3-p23.3 inverted duplication

Mutliaberrant cell formation caused by exposure to internal densely-ionizing irradiation

Open, non-comparative phase III clinical study to evaluate the efficacy and safety of sapropterin in patients with phenylketonuria and hyperphenylalaninemia

Clinical and genetic analysis of idiopathic intellectual disability based on array comparative genomic hybridization

Characterization of a small supernumerary ring marker derived from chromosome 2 by forward and reverse chromosome painting

FISH Diagnostics of Chromosomal Translocation with the Technology of Synthesis of Locus-Specific DNA Probes Based on Long-Range PCR

Prevalence of Hereditary Pathology in Altai Republic

Epidemiology of Congenital Malformations in Gorno-Altaisk, Altai Republic, Russia

Multiaberrant cell formation caused by exposure to internal densely-ionizing irradiation

Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation

A search for mutations in the DIA1 gene in case of hereditary methemoglobinemia type I in the iakut population

Prevalence of hereditary pathology in Altai Republic

Genetic processes in rural populations of the Tomsk region (migration characteristics)

Epidemiology of congenital malformations in Gorno-Altaisk, Altai Republic, Russia

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