Dora J. Fonseca-Mendoza

Carrera 24 N° 63C-69, CP 112111
Bogota, DC, Colombia

Last Updated: 09/26/2026

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Found 28 publications

Integrating molecular profiling into glioma diagnosis: implications of the WHO-CNS5-2021 classification of adult-type diffuse gliomas in Colombian patients.

Integrating molecular profiling into glioma diagnosis: implications of the WHO-CNS5-2021 classification of adult-type diffuse gliomas in Colombian patients.

Journal: Frontiers in neurology

Published: August 25, 2025

Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data.

Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data.

Journal: Human molecular genetics

Published: May 19, 2025

New insights into susceptibility to major depression in a Colombian population.

New insights into susceptibility to major depression in a Colombian population.

Journal: Trends in psychiatry and psychotherapy

Published: May 19, 2025

Novel De Novo DLL4 Missense and Highly Accurate Protein Structure Prediction in Adams-Oliver Type 6 Syndrome.

Novel De Novo DLL4 Missense and Highly Accurate Protein Structure Prediction in Adams-Oliver Type 6 Syndrome.

Journal: Clinical case reports

Published: April 01, 2025

Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family.

Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family.

Journal: The application of clinical genetics

Published: February 20, 2025

Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer.

Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer.

Journal: Frontiers in oncology

Published: February 19, 2025

Genetic Structure of the Y-Chromosome in Colombia: An Analysis of Regional Diversity and Ancestry.

Genetic Structure of the Y-Chromosome in Colombia: An Analysis of Regional Diversity and Ancestry.

Journal: American journal of human biology : the official journal of the Human Biology Council

Published: February 18, 2025

Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.

Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.

Journal: PloS one

Published: June 18, 2024

Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.

Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.

Journal: Human genomics

Published: February 05, 2024

The polygenic implication of clopidogrel responsiveness: Insights from platelet reactivity analysis and next-generation sequencing.

The polygenic implication of clopidogrel responsiveness: Insights from platelet reactivity analysis and next-generation sequencing.

Journal: PloS one

Published: January 15, 2024

Functional Analysis of BRCA1 3'UTR Variants Predisposing to Breast Cancer.

Functional Analysis of BRCA1 3'UTR Variants Predisposing to Breast Cancer.

Journal: The application of clinical genetics

Published: November 02, 2023

Next-generation sequencing of host genetics risk factors associated with COVID-19 severity and long-COVID in Colombian population.

Next-generation sequencing of host genetics risk factors associated with COVID-19 severity and long-COVID in Colombian population.

Journal: Scientific reports

Published: October 29, 2023

Showing 1-12 of 28

Last Updated: 09/26/2026