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Comprehensive Analysis of Human microRNA–mRNA Interactome

Frontiers in genetics, 2019-10, Vol.10, p.933-933

2019

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The role of long non-coding RNAs in the pathogenesis of hereditary diseases

BMC medical genomics, 2019-03, Vol.12 (Suppl 2), p.42-42, Article 42

2019

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Genotype-phenotype correlations in FSHD

BMC medical genomics, 2019-03, Vol.12 (Suppl 2), p.43-85, Article 43

2019

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Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24.32: a case report

Frontiers in genetics, 2024-01, Vol.14, p.1303807

2024

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Putting hands to rest: efficient deep CNN-RNN architecture for chemical named entity recognition with no hand-crafted rules

Journal of cheminformatics, 2018-05, Vol.10 (1), p.28-10, Article 28

2018

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Generalising better: Applying deep learning to integrate deleteriousness prediction scores for whole-exome SNV studies

PloS one, 2018-03, Vol.13 (3), p.e0192829-e0192829

2018

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LINC01420 RNA structure and influence on cell physiology

BMC genomics, 2019-05, Vol.20 (Suppl 3), p.298-298, Article 298

2019

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Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy

International journal of molecular sciences, 2023-06, Vol.24 (12), p.9786

2023

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Investigation of LINC00493/SMIM26 Gene Suggests Its Dual Functioning at mRNA and Protein Level

International journal of molecular sciences, 2021-08, Vol.22 (16), p.8477

2021

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Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report

Frontiers in genetics, 2023-07, Vol.14, p.1197681

2023

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Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test

International journal of molecular sciences, 2022-08, Vol.23 (16), p.9234

2022

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Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene

International journal of molecular sciences, 2022-12, Vol.23 (23), p.15026

2022

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Upstream ORF frameshift variants in the PAX6 5ʹUTR cause congenital aniridia

Human mutation, 2021-08, Vol.42 (8), p.1053-1065

2021

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Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome

Frontiers in neurology, 2021-12, Vol.12, p.761892

2021

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Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant

International journal of molecular sciences, 2023-04, Vol.24 (9), p.8021

2023

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Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene

Frontiers in genetics, 2022-05, Vol.13

2022

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Complex Transposon Insertion as a Novel Cause of Pompe Disease

International journal of molecular sciences, 2021-10, Vol.22 (19), p.10887

2021

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Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

BMC medical genetics, 2020-10, Vol.21 (Suppl 1), p.197-197, Article 197

2020

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Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing

International journal of molecular sciences, 2021-04, Vol.22 (8), p.4154

2021

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Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C

European journal of human genetics : EJHG, 2022-01, Vol.30 (1), p.133-136

2022

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Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series

Frontiers in genetics, 2024-08, Vol.15, p.1414928

2024

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Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene

Frontiers in neurology, 2022-11, Vol.13

2022

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Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas

Frontiers in genetics, 2024-08, Vol.15, p.1435493

2024

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Clinical and Functional Characteristics of the E92K CFTR Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis

International journal of molecular sciences, 2023-03, Vol.24 (7), p.6351

2023

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Medical genetics studies at BGRS conference series

BMC medical genetics, 2019-04, Vol.20 (Suppl 1), p.50-50, Article 50

2019

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Comprehensive Analysis of Human microRNA–mRNA Interactome

The role of long non-coding RNAs in the pathogenesis of hereditary diseases

Genotype-phenotype correlations in FSHD

Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24.32: a case report

Putting hands to rest: efficient deep CNN-RNN architecture for chemical named entity recognition with no hand-crafted rules

Generalising better: Applying deep learning to integrate deleteriousness prediction scores for whole-exome SNV studies

LINC01420 RNA structure and influence on cell physiology

Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy

Investigation of LINC00493/SMIM26 Gene Suggests Its Dual Functioning at mRNA and Protein Level

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report

Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test

Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene

Upstream ORF frameshift variants in the PAX6 5ʹUTR cause congenital aniridia

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome

Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant

Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene

Complex Transposon Insertion as a Novel Cause of Pompe Disease

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing

Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C

Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series

Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene

Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas

Clinical and Functional Characteristics of the E92K CFTR Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis

Medical genetics studies at BGRS conference series

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