R. Vazharova

发表

Rare Case of a Heterozygous Microdeletion 9q21.11-q21.2: Clinical and Genetic Characteristics

D. Toncheva, Ivanov Hy, Stoyanova V, 2018, Balkan journal of medical genetics : BJMG.

Screening of pharmacogenetic variants associated with drug sensitivity in patients with papillary thyroid carcinoma using next generation sequencing

D. Toncheva, R. Vazharova, S. Ivanov, 2017 .

NGS Nominated CELA 1 , HSPG 2 , and KCNK 5 as Candidate Genes for Predisposition to Balkan Endemic Nephropathy

D. Toncheva, D. Plaseska-Karanfilska, R., 2014 .

NGS Nominated CELA1, HSPG2, and KCNK5 as Candidate Genes for Predisposition to Balkan Endemic Nephropathy

D. Toncheva, D. Plaseska-Karanfilska, P. Dimitrov, 2014, BioMed research international.

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

D. Toncheva, I. Ivanov, R. Vazharova, 2018, Biotechnology & Biotechnological Equipment.

New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria

P. Wieacker, T. Todorov, A. Savov, 2017, Sexual Development.

A de novo microdeletion 2p24.3-25.1 identified in a girl with global development delay

D. Toncheva, V. Stoyanova, I. Ivanov, 2015 .

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

Yusuke Nakamura, Naoyuki Kamatani, Michiaki Kubo, 2009, Journal of Human Genetics.

Ready, Steady, Go—The Current State of Carriership Status Determination and Prenatal Diagnosis of Haemophilia a in Bulgaria

R. Vazharova, Venceslav Atanassov, 2011 .

Individual capacity for DNA repair and maintenance of genomic integrity: a fertile ground for studies in the field of assisted reproduction

I. Kremensky, R. Vazharova, 2016 .

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

S. Karachanak-Yankova, D. Toncheva, S. Mehrabian, 2021, Biotechnology & Biotechnological Equipment.

Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies

D. Toncheva, R. Vazharova, S. Ivanov, 2016, Case reports in obstetrics and gynecology.

Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study

S. Karachanak-Yankova, D. Toncheva, D. Nesheva, 2020, Journal of Translational Genetics and Genomics.

Whole-genome-wide association study in the Bulgarian population reveals HHAT as schizophrenia susceptibility gene

Yusuke Nakamura, Naoyuki Kamatani, Michiaki Kubo, 2013, Psychiatric genetics.

POOL-SEQ Study of Bulgarian Centenarians Highlights the Relevance for Human Longevity of Gene Expression Pathways

S. Karachanak-Yankova, D. Toncheva, D. Nesheva, 2019 .

Genome‐wide association study on bipolar disorder in the Bulgarian population

G. Kirov, M. Owen, Y. Kamatani, 2011, Genes, brain, and behavior.

Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population.

G. Kirov, M. Owen, Yusuke Nakamura, 2009, Journal of affective disorders.

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

S. Karachanak-Yankova, D. Toncheva, D. Nesheva, 2019, Biotechnology & Biotechnological Equipment.

Clinical and molecular studies of EXT1/EXT2 in Bulgaria

W. Wuyts, M. Apostolova, B. Vladimirov, 2011, Journal of Inherited Metabolic Disease.

Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1

D. Toncheva, S. Zacharieva, A. Savov, 2018, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

APC promoter 1B deletion in familial polyposis—implications for mutation‐negative families

T. Todorov, T. Kadiyska, S. Bichev, 2014, Clinical genetics.

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

D. Toncheva, S. Panov, R. Vazharova, 2018 .

Clinical impact of copy number variation changes in bladder cancer samples

C. Slavov, D. Toncheva, D. Nesheva, 2021, Experimental and therapeutic medicine.

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

S. Karachanak-Yankova, D. Toncheva, D. Nesheva, 2020, Technology in cancer research & treatment.

TruSight Cancer Sequencing Panel reveals pharmacogenetic variants associated with sensitivity to chemotherapy in lung cancer

D. Toncheva, R. Vazharova, S. Ivanov, 2016, memo - Magazine of European Medical Oncology.

Whole Genome Analysis by Array-Based Comparative Genomic Hybridization in Patients with Congenital Malformations

D. Toncheva, Y. Uzunova, R. Tincheva, 2008 .

Dopa-responsive dystonia in Bulgarian patients: report of three cases.

D. Toncheva, G. Stevanović, R. Vazharova, 2023, European journal of human genetics : EJHG.

Alterations of gut bacteria Akkermansia muciniphila and Faecalibacterium prausnitzii in late post-transplant period after liver transplantation

T. Velikova, Y. Uzunova, M. Peruhova, 2022, Iberoamerican Journal of Medicine.

Pathogenic Variant in the TAF6 Gene in a Bulgarian Patient with the Ultrarare Alazami-Yuan Syndrome

R. Vazharova, L. Balabanski, I. Bradinova, 2023, Journal of Pediatric Neurology.

Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss‐of‐function ASCC1 gene mutation in two Bulgarian Roma patients

A. Savov, R. Vazharova, L. Balabanski, 2022, Clinical genetics.