Guerau Fernandez

Madrid, MD 28029, Spain

Last Updated: 09/26/2026

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Found 48 publications

Multi-Omics Integration in Clinical Practice for the Identification of Genetic Variants in Rare Diseases.

Multi-Omics Integration in Clinical Practice for the Identification of Genetic Variants in Rare Diseases.

Journal: Archives of medical research

Published: December 04, 2025

Identification of autosomal and sex chromosome aneuploidies using next generation sequencing.

Identification of autosomal and sex chromosome aneuploidies using next generation sequencing.

Journal: Bioinformatics (Oxford, England)

Published: November 21, 2025

Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.

Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.

Journal: International journal of molecular sciences

Published: August 27, 2025

Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome.

Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome.

Journal: International journal of cancer

Published: January 21, 2025

RNA-sequencing: A reliable tool to unveil transcriptional landscape of paediatric B-other acute lymphoblastic leukaemia.

RNA-sequencing: A reliable tool to unveil transcriptional landscape of paediatric B-other acute lymphoblastic leukaemia.

Journal: British journal of haematology

Published: October 08, 2024

KDM6 Demethylases Contribute to EWSR1::FLI1-Driven Oncogenic Reprogramming in Ewing Sarcoma.

KDM6 Demethylases Contribute to EWSR1::FLI1-Driven Oncogenic Reprogramming in Ewing Sarcoma.

Journal: Cancer research

Published: October 08, 2024

Should We Offer Universal Germline Genetic Testing to All Patients with Pancreatic Cancer? A Multicenter Study.

Should We Offer Universal Germline Genetic Testing to All Patients with Pancreatic Cancer? A Multicenter Study.

Journal: Cancers

Published: September 28, 2024

Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador.

Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador.

Journal: NPJ genomic medicine

Published: August 21, 2024

CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions.

CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions.

Journal: Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association

Published: December 07, 2023

Timing of previous heart failure hospitalization as a prognostic factor for emergency department heart failure patients.

Timing of previous heart failure hospitalization as a prognostic factor for emergency department heart failure patients.

Journal: Internal and emergency medicine

Published: July 27, 2023

Fusion InPipe, an integrative pipeline for gene fusion detection from RNA-seq data in acute pediatric leukemia.

Fusion InPipe, an integrative pipeline for gene fusion detection from RNA-seq data in acute pediatric leukemia.

Journal: Frontiers in molecular biosciences

Published: January 10, 2023

Molecular Modelling Hurdle in the Next-Generation Sequencing Era.

Molecular Modelling Hurdle in the Next-Generation Sequencing Era.

Journal: International journal of molecular sciences

Published: June 09, 2022

Showing 1-12 of 48

Last Updated: 09/26/2026