List of works - Humberto García-Ortiz

A Loss-Of-Function Splice Acceptor Variant in IGF2 is Protective for Type 2 Diabetes

scientific article

A homozygous mutation in the PSMB8 gene in a case with proteasome-associated autoinflammatory syndrome.

scientific article published on 12 September 2017

Association between APOE polymorphisms and lipid profile in Mexican Amerindian population

scientific article published on 26 September 2019

Association of HMOX1 and NQO1 Polymorphisms with Metabolic Syndrome Components

scientific article published on May 2015

Association of TLR7 copy number variation with susceptibility to childhood-onset systemic lupus erythematosus in Mexican population

scientific article published on 4 June 2010

Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population

scientific article published on June 2014

Catalytically Impaired TYK2 Variants are Protective Against Childhood- and Adult-Onset Systemic Lupus Erythematosus in Mexicans

scientific article published on 21 August 2019

Comparing signals of natural selection between three Indigenous North American populations

scientific article published on 15 April 2019

Demographic history and biologically relevant genetic variation of Native Mexicans inferred from whole-genome sequencing

scientific article published on 18 October 2017

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

article by Jason Flannick et al published 22 May 2019 in Nature

Gender-Dependent Association of FTO Polymorphisms with Body Mass Index in Mexicans

scientific article published on 4 January 2016

Gene variants in AKT1, GCKR and SOCS3 are differentially associated with metabolic traits in Mexican Amerindians and Mestizos

scientific article published on 31 August 2018

Genomewide admixture study in Mexican Mestizos with multiple sclerosis

scientific article published on 24 December 2014

Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico

scientific article

Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report

scientific article published on 22 May 2019

Reconstruction of ancient microbial genomes from the human gut

scientific article published on 12 May 2021

SPINK5 and ADRB2 haplotypes are risk factors for asthma in Mexican pediatric patients.

scientific article published on 8 October 2014

The genomic landscape of Mexican Indigenous populations brings insights into the peopling of the Americas

scientific article published on 12 October 2021

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant

scientific article published on 01 December 2018

Variation in Actionable Pharmacogenetic Markers in Natives and Mestizos From Mexico

scientific article published on 10 October 2019

WNT3A gene polymorphisms are associated with bone mineral density variation in postmenopausal mestizo women of an urban Mexican population: findings of a pathway-based high-density single nucleotide screening.

scientific article

List of works by Humberto García-Ortiz

A Loss-Of-Function Splice Acceptor Variant in IGF2 is Protective for Type 2 Diabetes

A homozygous mutation in the PSMB8 gene in a case with proteasome-associated autoinflammatory syndrome.

Association between APOE polymorphisms and lipid profile in Mexican Amerindian population

Association of HMOX1 and NQO1 Polymorphisms with Metabolic Syndrome Components

Association of TLR7 copy number variation with susceptibility to childhood-onset systemic lupus erythematosus in Mexican population

Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population

Catalytically Impaired TYK2 Variants are Protective Against Childhood- and Adult-Onset Systemic Lupus Erythematosus in Mexicans

Comparing signals of natural selection between three Indigenous North American populations

Demographic history and biologically relevant genetic variation of Native Mexicans inferred from whole-genome sequencing

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

Gender-Dependent Association of FTO Polymorphisms with Body Mass Index in Mexicans

Gene variants in AKT1, GCKR and SOCS3 are differentially associated with metabolic traits in Mexican Amerindians and Mestizos

Genomewide admixture study in Mexican Mestizos with multiple sclerosis

Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico

Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report

Reconstruction of ancient microbial genomes from the human gut

SPINK5 and ADRB2 haplotypes are risk factors for asthma in Mexican pediatric patients.

The genomic landscape of Mexican Indigenous populations brings insights into the peopling of the Americas

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant

Variation in Actionable Pharmacogenetic Markers in Natives and Mestizos From Mexico

WNT3A gene polymorphisms are associated with bone mineral density variation in postmenopausal mestizo women of an urban Mexican population: findings of a pathway-based high-density single nucleotide screening.