List of works - Raul Tonda

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.

scientific article published on 12 January 2018

A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy

scientific article published on 25 July 2019

ATRX driver mutation in a composite malignant pheochromocytoma

scientific article

An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element.

scientific article

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

scientific article published on 04 January 2017

Chromosome 12p Amplification in Triple-Negative/BRCA1-Mutated Breast Cancer Associates with Emergence of Docetaxel Resistance and Carboplatin Sensitivity

scientific article published on 18 June 2019

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

scientific article

Deep analysis of acquired resistance to FGFR1 inhibitor identifies MET and AKT activation and an expansion of AKT1 mutant cells

scientific article published on 31 July 2018

Diagnostic value of bone marrow core biopsy patterns in lymphoplasmacytic lymphoma/Waldenström macroglobulinaemia and description of its mutational profiles by targeted NGS

scientific article published on 24 January 2020

Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data

scientific article published on 09 April 2021

Genome-wide profiling of non-smoking-related lung cancer cells reveals common RB1 rearrangements associated with histopathologic transformation in EGFR-mutant tumors

scientific article published on 01 February 2020

Heterozygous mutation causes familial ataxia with cognitive affective syndrome (SCA48)

scientific article published on 31 October 2018

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

scientific article

Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families.

scientific article

Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses

scientific article published on 9 October 2015

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

scientific article published on 01 June 2021

Variability in porcine microRNA genes and its association with mRNA expression and lipid phenotypes

scientific article published on 04 May 2021

Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development

scientific article

List of works by Raul Tonda

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.

A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy

ATRX driver mutation in a composite malignant pheochromocytoma

An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element.

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Chromosome 12p Amplification in Triple-Negative/BRCA1-Mutated Breast Cancer Associates with Emergence of Docetaxel Resistance and Carboplatin Sensitivity

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

Deep analysis of acquired resistance to FGFR1 inhibitor identifies MET and AKT activation and an expansion of AKT1 mutant cells

Diagnostic value of bone marrow core biopsy patterns in lymphoplasmacytic lymphoma/Waldenström macroglobulinaemia and description of its mutational profiles by targeted NGS

Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data

Genome-wide profiling of non-smoking-related lung cancer cells reveals common RB1 rearrangements associated with histopathologic transformation in EGFR-mutant tumors

Heterozygous mutation causes familial ataxia with cognitive affective syndrome (SCA48)

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families.

Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Variability in porcine microRNA genes and its association with mRNA expression and lipid phenotypes

Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development