Palaghia (Jenica) L. Abrudan, Ph.D.

Adjunct Assistant Professor

  • Milwaukee WI UNITED STATES

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Education, Licensure and Certification

Ph.D.

Biological Sciences

University of Notre Dame

2013

B.S.

Pharmaceutical Science

Universitatea de Medicina si Farmacie Timisoara, Romania

2005

Industry Expertise

Research
Education/Learning

Areas of Expertise

Clinical Data Analysis
Programming
Bioinformatics
Exome Analysis
Web Design

Accomplishments

Honorable Mention Award for poster presentation

2011

Annual Midwestern Conference of Parasitologists (AMCOP)

Social

Event and Speaking Appearances

The transcriptome of Phlebotomus papatasi

Arthropod Genomics: New Approaches and Outcomes  Kansas City

An in depth analysis of the Phlebotomus papatasi transcriptome

Arthropod Genomics: Exploring Diversity, Relating Similarity  Kansas City

The transcriptome of Phlebotomus papatasi

Systems Biology Symposium  Ann Arbor

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Selected Publications

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Genome Research

2015

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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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

Genetics in Medicine

2018

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.

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Motor Neuron Generation from iPSCs from Identical Twins Discordant for Amyotrophic Lateral Sclerosis

Cells

2020

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.

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