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Spatio-temporal dynamics of pathogenic variants associated with monogenic disorders reconstructed with ancient DNA

PloS one, 2022-06, Vol.17 (6), p.e0269628-e0269628

2022

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Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease

PloS one, 2020-09, Vol.15 (9), p.e0233666-e0233666

2020

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Incidence of ancient variants associated with oncological diseases in modern populations

Biotechnology, biotechnological equipment, 2023-12, Vol.37 (1), p.42-48

2023

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Pathogenic Variants Associated with Rare Monogenic Diseases Established in Ancient Neanderthal and Denisovan Genome-Wide Data

Genes, 2023-03, Vol.14 (3), p.727

2023

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Molecular response in long-term monitoring of patients with chronic myelogenic leukemia (CML) on nilotinib therapy

Biotechnology, biotechnological equipment, 2021-01, Vol.35 (1), p.650-656

2021

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Case-control association study of 59 candidate genes reveals the DRD2 SNP rs6277 (C957T) as the only susceptibility factor for schizophrenia in the Bulgarian population

Journal of human genetics, 2009-02, Vol.54 (2), p.98-107

2009

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Ancient human mitochondrial genomes from Bronze Age Bulgaria: new insights into the genetic history of Thracians

Scientific reports, 2019-04, Vol.9 (1), p.5412-5412, Article 5412

2019

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Rare Pathogenic Variants in Pooled Whole-Exome Sequencing Data Suggest Hyperammonemia as a Possible Cause of Dementia Not Classified as Alzheimer’s Disease or Frontotemporal Dementia

Genes, 2024-06, Vol.15 (6), p.753

2024

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Phenotypic variability and neuropsychological findings associated with C9orf72 repeat expansions in a Bulgarian dementia cohort

PloS one, 2018-12, Vol.13 (12), p.e0208383-e0208383

2018

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peopling of Europe and the cautionary tale of Y chromosome lineage R-M269

Proceedings of the Royal Society. B, Biological sciences, 2012-03, Vol.279 (1730), p.884-892

2012

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Detection of pathogenic variants in Alzheimer's disease related genes in Bulgarian patients by pooled whole-exome sequencing

Biotechnology, biotechnological equipment, 2023-12, Vol.37 (1), p.74-78

2023

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Genomics of longevity: recent insights from research on centenarians

Biotechnology, biotechnological equipment, 2018-11, Vol.32 (6), p.1359-1366

2018

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Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

European journal of human genetics : EJHG, 2013-06, Vol.21 (6), p.659-665

2013

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Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations

Technology in cancer research & treatment, 2020, Vol.19, p.1533033820911082-1533033820911082

2020

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Y-chromosome diversity in modern Bulgarians: new clues about their ancestry

PloS one, 2013-03, Vol.8 (3), p.e56779-e56779

2013

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Rare genetic variants prioritize molecular pathways for semaphorin interactions in Alzheimer's disease patients

Biotechnology, biotechnological equipment, 2021-01, Vol.35 (1), p.1256-1262

2021

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Genes predisposing to obesity emphasize G-protein coupled receptor associated pathways in healthy Bulgarian individuals

Biotechnology, biotechnological equipment, 2020-01, Vol.34 (1), p.690-697

2020

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Expression profiling of muscle invasive and non-invasive bladder tumors for biomarkers identification related to drug resistance, sensitivity and tumor progression

Biotechnology, biotechnological equipment, 2020-01, Vol.34 (1), p.506-514

2020

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Benefits and challenges in conducting long-term growth hormone therapy in patients with Prader-Willi syndrome

Genetika (Beograd), 2020, Vol.52 (1), p.149-160

2020

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SCN8A p.Arg1872Gln mutation in early infantile epileptic encephalopathy type 13: Review and case report

Biotechnology, biotechnological equipment, 2018-11, Vol.32 (6), p.1345-1351

2018

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Preimplantation genetic testing: method and two case studies of familial three-way complex translocations

Biotechnology, biotechnological equipment, 2019-01, Vol.33 (1), p.1663-1670

2019

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Strong evidence for association between the dystrobrevin binding protein 1 gene ( DTNBP1) and schizophrenia in 488 parent-offspring trios from Bulgaria

Biological psychiatry (1969), 2004-05, Vol.55 (10), p.971-975

2004

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Metachronous Development of Meningothelial Meningioma, Basal Cell Carcinoma, and Glioblastoma Multiforme in a Patient with Pancreatic Incidentaloma

Case reports in oncology, 2017-11, Vol.10 (3), p.1023-1028

2017

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Double heterozygosity of novel variants found in patients with severe clinical phenotype of cardiovascular disorders

Biotechnology, biotechnological equipment, 2018-05, Vol.32 (3), p.679-685

2018

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Prioritization of genetic variants predisposing to coronary heart disease in the Bulgarian population using centenarian exomes

Biotechnology, biotechnological equipment, 2019-01, Vol.33 (1), p.1757-1765

2019

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Spatio-temporal dynamics of pathogenic variants associated with monogenic disorders reconstructed with ancient DNA

Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease

Incidence of ancient variants associated with oncological diseases in modern populations

Pathogenic Variants Associated with Rare Monogenic Diseases Established in Ancient Neanderthal and Denisovan Genome-Wide Data

Molecular response in long-term monitoring of patients with chronic myelogenic leukemia (CML) on nilotinib therapy

Case-control association study of 59 candidate genes reveals the DRD2 SNP rs6277 (C957T) as the only susceptibility factor for schizophrenia in the Bulgarian population

Ancient human mitochondrial genomes from Bronze Age Bulgaria: new insights into the genetic history of Thracians

Rare Pathogenic Variants in Pooled Whole-Exome Sequencing Data Suggest Hyperammonemia as a Possible Cause of Dementia Not Classified as Alzheimer’s Disease or Frontotemporal Dementia

Phenotypic variability and neuropsychological findings associated with C9orf72 repeat expansions in a Bulgarian dementia cohort

peopling of Europe and the cautionary tale of Y chromosome lineage R-M269

Detection of pathogenic variants in Alzheimer's disease related genes in Bulgarian patients by pooled whole-exome sequencing

Genomics of longevity: recent insights from research on centenarians

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations

Y-chromosome diversity in modern Bulgarians: new clues about their ancestry

Rare genetic variants prioritize molecular pathways for semaphorin interactions in Alzheimer's disease patients

Genes predisposing to obesity emphasize G-protein coupled receptor associated pathways in healthy Bulgarian individuals

Expression profiling of muscle invasive and non-invasive bladder tumors for biomarkers identification related to drug resistance, sensitivity and tumor progression

Benefits and challenges in conducting long-term growth hormone therapy in patients with Prader-Willi syndrome

SCN8A p.Arg1872Gln mutation in early infantile epileptic encephalopathy type 13: Review and case report

Preimplantation genetic testing: method and two case studies of familial three-way complex translocations

Strong evidence for association between the dystrobrevin binding protein 1 gene ( DTNBP1) and schizophrenia in 488 parent-offspring trios from Bulgaria

Metachronous Development of Meningothelial Meningioma, Basal Cell Carcinoma, and Glioblastoma Multiforme in a Patient with Pancreatic Incidentaloma

Double heterozygosity of novel variants found in patients with severe clinical phenotype of cardiovascular disorders

Prioritization of genetic variants predisposing to coronary heart disease in the Bulgarian population using centenarian exomes

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