Raul Tonda

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 32 publications

Interlaboratory evaluation of high molecular weight DNA extraction methods for long-read sequencing and structural variant analysis.

Interlaboratory evaluation of high molecular weight DNA extraction methods for long-read sequencing and structural variant analysis.

Journal: BMC genomics
Published: August 07, 2024

Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma.

Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma.

Journal: PloS one
Published: July 18, 2024

Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype.

Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype.

Journal: PLoS genetics
Published: June 03, 2024

Host genetic and immune factors drive evasion of HIV-1 pathogenesis in viremic non-progressors.

Host genetic and immune factors drive evasion of HIV-1 pathogenesis in viremic non-progressors.

Journal: Med (New York, N.Y.)
Published: March 13, 2024

Quantification of rare somatic single nucleotide variants by droplet digital PCR using SuperSelective primers.

Quantification of rare somatic single nucleotide variants by droplet digital PCR using SuperSelective primers.

Journal: Scientific reports
Published: June 01, 2023

Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.

Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.

Journal: Blood advances
Published: January 13, 2023

Wnt genes in colonic polyposis predisposition.

Wnt genes in colonic polyposis predisposition.

Journal: Genes & diseases
Published: October 03, 2022

A critical spotlight on the paradigms of FFPE-DNA sequencing.

A critical spotlight on the paradigms of FFPE-DNA sequencing.

Journal: Nucleic acids research
Published: July 12, 2022

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.

Journal: Genes
Published: October 19, 2021

The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.

The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.

Journal: Human mutation
Published: October 08, 2021

Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.

Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.

Journal: European journal of human genetics : EJHG
Published: August 16, 2021

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

Journal: The Journal of molecular diagnostics : JMD
Published: June 22, 2021
Showing 1-12 of 32

Last Updated: 09/26/2026