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Patrícia Dias

Biochemistry, Genetics and Molecular Biology · The Ohio State University

OpenAlex ORCID
Established · publishing since 1997Rising activity
Genomic variations and chromosomal abnormalitiesCongenital heart defects researchGenetics and Neurodevelopmental DisordersGenomics and Rare DiseasesRNA regulation and disease

Publications

77

Citations

1,129

Est. group size

~6

Recurring co-author estimate

Active years

29

Publishing since 1997

Research summary
AI-generated

Patrícia Dias works in clinical and molecular genetics, focusing on identifying and characterizing genetic variants that cause rare inherited disorders, including neurodevelopmental conditions, leukodystrophies, and connective tissue diseases. Her work spans case reports, cohort studies, and molecular/cellular studies (such as stem cell models) aimed at understanding disease mechanisms and improving diagnosis. She also contributes to broader topics in pharmacology, toxicology, and clinical research practices.

Rare genetic disease diagnosis and characterizationNeurodevelopmental disorder geneticsMolecular mechanisms of inherited metabolic and connective tissue disordersPharmacology and toxicology (bisphenols, plant-derived compounds)Clinical research methodology and case reporting

Publication output has been fairly steady over the last decade, with modest year-to-year fluctuations and a slight increase in recent years (2022-2025) compared to earlier years.

Generated by claude-sonnet-5 from public bibliographic data · Jul 20, 2026

Publication cadence
Publications per year over the last 10 years — averaging 4.8/year recently
2017: 6 publications172018: 1 publication182019: 3 publications192020: 3 publications202021: 3 publications212022: 7 publications7222023: 6 publications232024: 5 publications242025: 6 publications2526
Recent publications
Publishes in
  • BMJ Case Reports×3
  • Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)×3
  • Genetics in Medicine×2
  • Taiwanese Journal of Obstetrics and Gynecology×2
  • Biophysical Journal×2
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This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.

Last updated Jul 19, 2026.

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