Education, Licensure and Certification (2)
Ph.D.: Biological Sciences, University of Notre Dame 2013
B.S.: Pharmaceutical Science, Universitatea de Medicina si Farmacie Timisoara, Romania 2005
Industry Expertise (2)
Research
Education/Learning
Areas of Expertise (5)
Clinical Data Analysis
Programming
Bioinformatics
Exome Analysis
Web Design
Accomplishments (1)
Honorable Mention Award for poster presentation (professional)
2011 Annual Midwestern Conference of Parasitologists (AMCOP)
Event and Speaking Appearances (5)
Genomic variation in PDAC-predisposing genes identified using the MCW germline exome panel
AACR Annual Meeting 2019 Atlanta, GA
An analysis of the Phlebotomus papatasi transcriptome
Annual Midwestern Conference of Parasitologists (AMCOP) Notre Dame
The transcriptome of Phlebotomus papatasi
Systems Biology Symposium Ann Arbor
An in depth analysis of the Phlebotomus papatasi transcriptome
Arthropod Genomics: Exploring Diversity, Relating Similarity Kansas City
The transcriptome of Phlebotomus papatasi
Arthropod Genomics: New Approaches and Outcomes Kansas City
Selected Publications (5)
Genomic analysis of two phlebotomine sand fly vectors of Leishmania from the New and Old World
PLoS Neglected Tropical Diseases2023 Phlebotomine sand flies are of global significance as important vectors of human disease, transmitting bacterial, viral, and protozoan pathogens, including the kinetoplastid parasites of the genus Leishmania, the causative agents of devastating diseases collectively termed leishmaniasis.
Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level
Frontiers in Oncology2021 We investigated germline variation in pancreatic ductal adenocarcinoma (PDAC) predisposition genes in 535 patients, using a custom-built panel and a new complementary bioinformatic approach. Our panel assessed genes belonging to DNA repair, cell cycle checkpoints, migration, and preneoplastic pancreatic conditions. Our bioinformatics approach integrated annotations of variants by using data derived from both germline and somatic references.
Motor Neuron Generation from iPSCs from Identical Twins Discordant for Amyotrophic Lateral Sclerosis
Cells2020 Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disorder characterized by the loss of the upper and lower motor neurons. Approximately 10% of cases are caused by specific mutations in known genes, with the remaining cases having no known genetic link. As such, sporadic cases have been more difficult to model experimentally.
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss
Genetics in Medicine2018 Hearing loss (HL) is the most common sensory disorder in children. Prompt molecular diagnosis may guide screening and management, especially in syndromic cases when HL is the single presenting feature. Exome sequencing (ES) is an appealing diagnostic tool for HL as the genetic causes are highly heterogeneous.
Actionable exomic incidental findings in 6503 participants: challenges of variant classification
Genome Research2015 Recommendations for laboratories to report incidental findings from genomic tests have stimulated interest in such results. In order to investigate the criteria and processes for assigning the pathogenicity of specific variants and to estimate the frequency of such incidental findings in patients of European and African ancestry, we classified potentially actionable pathogenic single-nucleotide variants (SNVs) in all 4300 European- and 2203 African-ancestry participants sequenced by the NHLBI Exome Sequencing Project (ESP).
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