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Concomitant CNVs in healthy carriers with 7q31.1 microdeletions may suppress intellectual disability and autism spectrum disorders phenotype

European psychiatry, 2022-06, Vol.65 (S1), p.S382-S382

2022

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Complex biology of constitutional ring chromosomes structure and (in)stability revealed by somatic cell reprogramming

Scientific reports, 2021-02, Vol.11 (1), p.4325-4325, Article 4325

2021

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Identification of candidate genes of intellectual disability by single-gene deletions/amplifications mapping using chromosomal microarray analysis

European psychiatry, 2022-06, Vol.65 (S1), p.S382-S382

2022

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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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Building Life-Cycle Management. Information Systems and Technologies: Selected Papers

1, 2022

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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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Identification of differentially methylated genes in first-trimester placentas with trisomy 16

Scientific reports, 2022-01, Vol.12 (1), p.1166-1166, Article 1166

2022

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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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Building Life-cycle Management. Information Systems and Technologies: Selected Papers

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Generation of iPS cell line (ICGi040-A) from skin fibroblasts of a patient with ring small supernumerary marker chromosome 4

Stem cell research, 2022-05, Vol.61, p.102740-102740, Article 102740

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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Induced pluripotent stem cell line, IMGTi003-A, derived from skin fibroblasts of an intellectually disabled patient with ring chromosome 13

Stem cell research, 2018-12, Vol.33, p.260-264

2018

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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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Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing

Biomedicines, 2021-08, Vol.9 (8), p.1030

2021

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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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Generation of two iPSC lines (IMGTi001-A and IMGTi001-B) from human skin fibroblasts with ring chromosome 22

Stem cell research, 2018-08, Vol.31, p.244-248

2018

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46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study

Genes, 2020-12, Vol.11 (12), p.1473

2020

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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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Genomic architecture of human chromosomal diseases

Russian journal of genetics, 2016-05, Vol.52 (5), p.447-462

2016

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Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22

Molecular cytogenetics, 2018-04, Vol.11 (1), p.26-26, Article 26

2018

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Estimation of association of CNTN6 copy number variation with idiopathic intellectual disability

Russian journal of genetics, 2016-09, Vol.52 (9), p.1004-1006

2016

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1866 – Novel candidate genomic loci for mental retardation

European psychiatry, 2013, Vol.28, p.1-1

2013

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Concomitant CNVs in healthy carriers with 7q31.1 microdeletions may suppress intellectual disability and autism spectrum disorders phenotype

Complex biology of constitutional ring chromosomes structure and (in)stability revealed by somatic cell reprogramming

Identification of candidate genes of intellectual disability by single-gene deletions/amplifications mapping using chromosomal microarray analysis

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

Building Life-Cycle Management. Information Systems and Technologies: Selected Papers

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

Identification of differentially methylated genes in first-trimester placentas with trisomy 16

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

Building Life-cycle Management. Information Systems and Technologies: Selected Papers

Generation of iPS cell line (ICGi040-A) from skin fibroblasts of a patient with ring small supernumerary marker chromosome 4

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

Induced pluripotent stem cell line, IMGTi003-A, derived from skin fibroblasts of an intellectually disabled patient with ring chromosome 13

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

Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing

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

Generation of two iPSC lines (IMGTi001-A and IMGTi001-B) from human skin fibroblasts with ring chromosome 22

46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study

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

Genomic architecture of human chromosomal diseases

Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22

Estimation of association of CNTN6 copy number variation with idiopathic intellectual disability

Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

1866 – Novel candidate genomic loci for mental retardation

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