Publications (18) Carlos Alberto Flores Infante publications

filter_list Genetics, Medical

2025

  1. A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice

    European Journal of Human Genetics

2023

  1. Benchmarking of human Y-chromosomal haplogroup classifiers with whole-genome and whole-exome sequence data

    Computational and Structural Biotechnology Journal, Vol. 21, pp. 4613-4618

  2. GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

    Nature, Vol. 617, Núm. 7962, pp. 764-768

2022

  1. A catalog of the genetic causes of hereditary angioedema in the Canary Islands (Spain)

    Frontiers in Immunology, Vol. 13

  2. Curated variation benchmarks for challenging medically relevant autosomal genes

    Nature Biotechnology, Vol. 40, Núm. 5, pp. 672-680

  3. Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders

    Scientific Reports, Vol. 12, Núm. 1

2021

  1. A benchmarking of human mitochondrial DNA haplogroup classifiers from whole-genome and whole-exome sequence data

    Scientific Reports, Vol. 11, Núm. 1

  2. Genetic ancestry inference and its application for the genetic mapping of human diseases

    International Journal of Molecular Sciences, Vol. 22, Núm. 13

2020

  1. Admixture mapping of asthma in southwestern Europeans with North African ancestry influences

    American journal of physiology. Lung cellular and molecular physiology, Vol. 318, Núm. 5, pp. L965-L975

  2. Corrigendum: Bradykinin-Mediated Angioedema: An Update of the Genetic Causes and the Impact of Genomics (Frontiers in Genetics, (2019), 10, 10.3389/fgene.2019.00900)

    Frontiers in Genetics

2019

  1. Bradykinin-mediated angioedema: An update of the genetic causes and the impact of genomics

    Frontiers in Genetics, Vol. 10, Núm. SEP

2017

  1. Identification of a novel locus associated with skin colour in African-admixed populations

    Scientific Reports, Vol. 7

2016

  1. What Ancestry Can Tell Us About the Genetic Origins of Inter-Ethnic Differences in Asthma Expression

    Current Allergy and Asthma Reports, Vol. 16, Núm. 8

2011

  1. Novel IRF6 mutations in Honduran Van der Woude syndrome patients

    Molecular Medicine Reports, Vol. 4, Núm. 2, pp. 237-241

2008

  1. IL6 gene-wide haplotype is associated with susceptibility to acute lung injury

    Translational Research, Vol. 152, Núm. 1, pp. 11-17

2007

  1. A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease

    Journal of Human Genetics, Vol. 52, Núm. 3, pp. 255-261

2005

  1. Isolates in a corridor of migrations: A high-resolution analysis of Y-chromosome variation in Jordan

    Journal of Human Genetics, Vol. 50, Núm. 9, pp. 435-441

  2. The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping

    Journal of Human Genetics, Vol. 50, Núm. 7, pp. 370-374