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- Biochemistry and Molecular Medicine Academic Department
- Contact Info
Anelia Dafinova Horvath Faculty Member
Positions
- Co-Director, Research Associate Professor, Biochemistry and Molecular Medicine , School of Medicine and Health Sciences 2012 -
- Director, McCormick Genomic and Proteomic Center, Biochemistry and Molecular Medicine , School of Medicine and Health Sciences 2014 -
Research Areas
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Affiliation
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Publications
selected publications
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academic article
- Genomics of Black American colon cancer disparities: An RNA sequencing (RNA-Seq) study from an academic, tertiary referral center. Surgery. 2022
- Differences in the Platelet mRNA Landscape Portend Racial Disparities in Platelet Function and Suggest Novel Therapeutic Targets. Clin Pharmacol Ther. 2021
- Improved SNV Discovery in Barcode-Stratified scRNA-seq Alignments.. Genes. 2021
- SCReadCounts: estimation of cell-level SNVs expression from scRNA-seq data.. BMC Bioinformatics. 2021
- Selective disruption of trigeminal sensory neurogenesis and differentiation in a mouse model of 22q11.2 deletion syndrome.. Dis Model Mech. 2021 Mar 15:dmm.047357. doi: 10.1242/dmm.047357. Online ahead of print. PMID: 33722956. 2021
- scReQTL: an approach to correlate SNVs to gene expression from individual scRNA-seq datasets.. BMC Genomics. 2021 Jan 8;22(1):40. doi: 10.1186/s12864-020-07334-y. PMID: 33419390. 2021
- Evaluation of an angiotensin Type 1 receptor blocker on the reconsolidation of fear memory.. Transl Psychiatry. 2020 Oct 27;10(1):363. doi: 10.1038/s41398-020-01043-6. PMID: 33110066. 2020
- BMC Bioinformatics (in Review). RsQTL: correlation of expressed SNVs with splicing using RNA-sequencing data. 2020
- Frontiers Bioengineering. GeTallele: a method for analysis of DNA and RNA allele frequency distributions. 2020
- Frontiers Physiology (in Review). Differences in the platelet mRNA landscape portend racial disparities in platelet function. 2020
- Genes. Estimating the Allele-Specific Expression of SNVs From 10× Genomics Single-Cell RNA-Sequencing Data.. 2020
- Human Molecular Genetics. Transcriptional dysregulation in developing trigeminal sensory neurons in the LgDel mouse model of DiGeorge 22q11.2 deletion syndrome.. 2020
- Nucleic Acids Research (Submitted). scReQTL: an approach to correlate SNVs to gene expression from individual scRNA-seq datasets. 2020
- PLOS Pathogens. Exosomes containing HIV protein Nef reorganize lipid rafts inducing inflammatory response in bystander cells. 2019
- Scientific Reports. Dysregulated metabolic pathways in age-related macular degeneration. 2019
- GeTallele: a mathematical model and a toolbox for integrative analysis and visualization of DNA and RNA allele frequencies. bioarxiv. 2019
- ReQTL - an allele-level measure of variation-expression relationships. Bioinformatics. 2018
- Systematic pan-cancer analysis of somatic allele frequency. Scientific Reports. 2018
- Analysis of Genomes and Transcriptomes of Hepatocellular Carcinomas Identifies Mutations and Gene Expression Changes in the Transforming Growth Factor-β Pathway. 2018
- Alternative splicing in African American prostate cancer: oncogenic driver of tumor aggressiveness and drug resistance.. Nature Communications. 2017
- Overexpressed somatic alleles are enriched in functional elements in Breast Cancer. Scientific Reports. 2017
- Co-Occurrence of COMT and BRCA1/2 Variants in a Population.. The New England Journal of Medicine. 2017
- RNA2DNAlign: nucleotide resolution allele asymmetries through quantitative assessment of RNA and DNA paired sequencing data.. Nucleic Acids Research. 2016
- A cellular and molecular mosaic establishes growth and differentiation states for cranial sensory neurons. Dev Biol. 2016
- Cholesterol Biosynthesis and Trafficking in Cortisol-Producing Lesions of the Adrenal Cortex. J Clin Endocrinololgy and Methabolism. 2015
- SASH1 Is Involved in an Autosomal Dominant Lentiginous Phenotype. Send to: J Invest Dermatol. 2015 Dec;135(12):3192-4. doi: 10.1038/jid.2015.292.. 2015
- Phosphodiesterase sequence variants may predispose to prostate cancer. Endocr Relat Cancer.. 2015
- Analysis for co-occurring sequence features identifies link between common synonymous variant and an early-terminated NPC1 isoform.. Journal of Clinical Bioinformatics. 2015
- Is IGSF1 involved in human pituitary tumor formation?. Endocrine Related Cancer. 2015
- Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation 2014
- SNPlice: variants that modulate Intron retention from RNA-sequencing data. Bioinformatics. 2014
- Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion.. Eur J Endocrinol.. 2013
- Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.. J Clin Endocrinol Metab.. 2013
- Identification of Novel Gene Targets and Functions of p21-Activated Kinase 1 during DNA Damage by Gene Expression Profiling. PLoS One. 2013
- Extraction of Regulatory Features through Exome-to-Transcriptome Alignment. Journal of Metabolomics Systems Biology. 2013
- Genomic Insights into Triple-Negative and HER2-Positive Breast Cancers Using Isogenic Model Systems. PLoS One. 2013
- Identifying splice-modulating SNPs from RNA-sequencing data. Bioinformatcs. 2013
- Novel Insights into Breast Cancer Genetic Variance through RNA Sequencing. Sci Rep. 2013
- RNA sequencing of cancer reveals novel splicing alterations. Sci Rep. 2013
- Differences in the platelet mRNA landscape portend racial disparities in platelet function and suggest novel therapeutic targets. Clinical Pharmacology Therapeutics.
- Expanding the prostate cancer cell line repository: insights into the first Caribbean cell line, ACRJ-PC28. Prostate Cancer and Prostatic Diseases.
- Extracellular vehicles carrying HIV-1 Nef induce trained immunity in myeloid cells. Scientific Reports.
- SCReadCounts: Estimation of cell-level SNVs from scRNA-seq data. BMC Genomics.
- SNV calls from individual scRNA-seq alignments identify novel somatic variants. Bioinformatics.
- Somatic mutations in healthy fetal adrenal tissues identified through scRNA-seq. Genome Biology.
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book
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chapter
- Molecular Genetics of Carney Complex. eLS Citable Reviews in Life Sciences. 2013
- Carney Complex. GeneReviews. 2010
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conference paper
- Integrated transcriptome from single cell RNA sequencing 2019
- Allelic Maps of Cancer 2016
- Identifying Splice-modulating variants from RNA-seq datasets 2013
- Breast Cancer Genomic Variance through RNA-sequencing 2013
- In and Out of Exome Transcriptome 2013
- Obesity and Alcoholism: genomic overlap 2013
- In and Out of the Transcriptome 2012
- RNA-sequencing reveals Novel Splicing Alterations in Breast Cancer 2012
- Other Players – PDE11A, PDE8B, PDE7A, PRKACB and Human Disease PDE2011 2011
- PDE8B and PDE7A, in adrenocortical tumors 2009
- Familial Testicular Germ Cell Tumors and PDE11A Mutations 2008
- Missense Mutations in PDE11A Segregate with the Disease in Kindreds with Testicular Cancer 2008
- PDE8B, a high affinity cAMP-specific phosphodiesterase, is mutant in adrenal hyperplasia associated with Cushing syndrome 2007
- Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population 2007
- Adrenocortical adenomas are associated with inhibition of phosphodiesterase 11A, PDE11A sequence variants and are present in pde11a+/- mice 2006
- PRKAR1A mutations leading to Carney complex, PPNAD and related disorders: Analysis of the largest database to date, identification of large gene rearrangements and other novel disease-causing alterations, and functional characterization of expressed mutants 2005
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conference poster
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review
- Clinical and Molecular Genetics of the Phosphodiesterases (PDEs). Endocr Rev. 2013
presentations
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presentation
- Pan-cancer analysis of somatic mutations allele frequency, ISCB meeting, Barcelona, Spain 2018
- Genomic Signatures defeating predisposed breast cancer, EMBL Heidelberg, Germany 1 - 4 Nov 2015, Cancer Genomics, selected for oral presentation 2015
- Genomic Signatures Acompanying BRCA1/2 mutations, 8th International Symposium on Breast Cancer 2015
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Research
principal investigator on
co-principal investigator on
other research activities
- Congenital muscular dystrophies
- Epigenetic Reprogramming in HIV-Associated Cardio-Vascular Disease
- Identification of biomarkers predicting clinical behavior and therapy response 1 month in mantle cell lymphoma
- NIH/Scalable platform for optimizing human cardiac tissue engineering
- Pathology, Developmental Origins, and Prevention of Pediatric Dysphagia
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Teaching
teaching activities
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Service
reviewer of
- Bioinformatics (Journal)
- European Commission_FET OPEN RIA (Journal)
- European Commission_FETOPEN (Journal)
- European Commission_MSCA (Journal)
- Frontiers in Physiology, section Computational Physiology and Medicine (Journal)
- Genes (Journal)
- Genes (Journal)
- Journal of Metabolomics and Systems Biology (Journal)
- Scientific Reports (Journal)
- Scientific Reports (Journal)
professional service activities
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Background
education and training
- B.Sc degree in Biochemistry and Microbiology, Sofia University, Bulgaria
- Graduate Specialization degree in Clinical Chemistry, Medical University of Sofia,Bulgaria
- M.Sc degree in Molecular Biology, Sofia University,Bulgaria
- Ph.D degree in Human Genetics, Medical University of Sofia,Bulgaria
- NIH,Bethesda,MD , Postdoctoral Fellowship
awards and honors
- Fellows Award, conferred by Research Excellence, in Biomedical Research, NIH, 2006
- Annual award EVRIKA Scientific achievements in the field “Science”, conferred by St. St. Kiril and Metodi foundation, 2003
- First place award for oral presentation, conferred by International Congress of Medical Sciences,Sofia, Bulgaria, 2003
- First place award for the Best PhD thesis in Biomedical sciences, conferred by the Werner von Siemens Foundation Excellence award, 2003
- First place award for the best research project, for design, management and accomplishment, conferred by Medical Research Council, Sofia, Bulgaria, 2003
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Contact
full name
- Anelia Dafinova Horvath
mailing address
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Biochemistry and Molecular Medicine
Ross Hall 653
Washington, DC 20037
USA
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