Maria C. Poli

Santiago, RM 7610658, Chile

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 40 publications

An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families.

An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families.

Journal: Genome medicine

Published: June 14, 2025

Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.

Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.

Journal: Journal of human immunity

Published: February 19, 2025

The 2024 update of IUIS phenotypic classification of human inborn errors of immunity.

The 2024 update of IUIS phenotypic classification of human inborn errors of immunity.

Journal: Journal of human immunity

Published: February 19, 2025

VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data.

VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data.

Journal: bioRxiv : the preprint server for biology

Published: November 18, 2024

Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency.

Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency.

Journal: The Journal of allergy and clinical immunology

Published: October 30, 2024

Editorial: Immune response to gram-negative bacteria in the lungs.

Editorial: Immune response to gram-negative bacteria in the lungs.

Journal: Frontiers in cellular and infection microbiology

Published: September 29, 2024

Long-term effects of COVID-19 in patients with primary immunodeficiency: An IPOPI worldwide survey.

Long-term effects of COVID-19 in patients with primary immunodeficiency: An IPOPI worldwide survey.

Journal: The Journal of allergy and clinical immunology

Published: September 26, 2024

Post-COVID-19 condition: a sex-based analysis of clinical and laboratory trends.

Post-COVID-19 condition: a sex-based analysis of clinical and laboratory trends.

Journal: Frontiers in medicine

Published: January 24, 2024

Proteasome disorders and inborn errors of immunity.

Proteasome disorders and inborn errors of immunity.

Journal: Immunological reviews

Published: October 10, 2023

Disparities in Diagnosis, Access to Specialist Care and Treatment for Inborn Errors of Immunity.

Disparities in Diagnosis, Access to Specialist Care and Treatment for Inborn Errors of Immunity.

Journal: The journal of allergy and clinical immunology. In practice

Published: August 09, 2023

Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.

Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.

Journal: European journal of human genetics : EJHG

Published: August 03, 2023

TGFβ links EBV to multisystem inflammatory syndrome in children.

TGFβ links EBV to multisystem inflammatory syndrome in children.

Journal: Nature

Published: July 04, 2023

Showing 1-12 of 40

Last Updated: 09/26/2026