Dorota Marta Monies - Genetic Mutations

Author Information

Dorota Marta Monies is affiliated with the Department of Genetics at the King Faisal Specialist Hospital and Research Centre, located in Riyadh, Saudi Arabia. Her detailed address includes P.O. Box 3354, Riyadh, 11211, Saudi Arabia.

Research Contributions

Dorota Marta Monies has made significant contributions to the field of genetics, with a particular focus on the Saudi population. Her research encompasses a variety of genetic conditions and disorders, including pharmacogenetic variants, dysferlinopathy, juvenile psoriatic arthritis, transthyretin amyloidosis, and the implications of mosaicism in genetic variant interpretation. She has also explored prenatal exome sequencing, chromosomal microarray analysis, and the genetic underpinnings of severe combined immunodeficiency disease, particularly in the context of SARS-CoV-2-related acute respiratory distress syndrome. Her work is characterized by its focus on the genetic landscape of consanguineous populations and the identification of both known and candidate genetic variants.

Aliases

Dorota Marta Monies is also known by several aliases, including D. Monies, Dorota Monies, Dorota M. Monies, and Dorota M Monies.

Publication and Citation Metrics

Metric Value
Citation Count 3878
h-index 34
Paper Count 108

Publications:

DOI: 10.1016/j.ijpam.2020.11.005

Year: 2021

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