Adrien Morel

Bogota, DC, Colombia

Last Updated: 09/26/2026

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Found 28 publications

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

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

Linking genotype to trophoblast phenotype in preeclampsia and HELLP syndrome associated with STOX1 genetic variants.

Linking genotype to trophoblast phenotype in preeclampsia and HELLP syndrome associated with STOX1 genetic variants.

Journal: iScience

Published: November 15, 2023

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

Functional analysis of CTLA4 promoter variant and its possible implication in colorectal cancer immunotherapy.

Functional analysis of CTLA4 promoter variant and its possible implication in colorectal cancer immunotherapy.

Journal: Frontiers in medicine

Published: February 07, 2023

Showing 1-12 of 28

Last Updated: 09/26/2026