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Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension

Circulation (New York, N.Y.), 2017-01, Vol.135 (5), p.460-475

2017

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267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation

Molecular biology and evolution, 2016-05, Vol.33 (5), p.1205-1218

2016

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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

American journal of human genetics, 2017-01, Vol.100 (1), p.75-90

2017

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Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease

Orphanet journal of rare diseases, 2012-12, Vol.7 (1), p.103-103, Article 103

2012

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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

Intensive care medicine, 2019-05, Vol.45 (5), p.627-636

2019

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Babelomics 5.0: functional interpretation for new generations of genomic data

Nucleic acids research, 2015-07, Vol.43 (W1), p.W117-W121

2015

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Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

American journal of respiratory and critical care medicine, 2020-03, Vol.201 (5), p.575-585

2020

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Shared and Distinct Genomics of Chronic Thromboembolic Pulmonary Hypertension and Pulmonary Embolism

American journal of respiratory and critical care medicine, 2024-06

2024

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Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

The lancet respiratory medicine, 2019-03, Vol.7 (3), p.227-238

2019

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AA.VV. (2022). Fortius. Fortificaciones en el extremo occidental norteafricano: Instituto de Estudios Ceutíes. ISBN: 978-84-18642-17-3

Eviterna, 2023-03 (13), p.81-84

Bleda Soler, Marta

2023

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Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition

Brain (London, England : 1878), 2023-09, Vol.146 (9), p.3885-3897

2023

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Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality

Journal of medical genetics, 2022-09, Vol.59 (9), p.906-911

2022

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Autoimmunity Is a Significant Feature of Idiopathic Pulmonary Arterial Hypertension

American journal of respiratory and critical care medicine, 2022-07, Vol.206 (1), p.81-93

2022

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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

American journal of human genetics, 2023-08, Vol.110 (8), p.1356-1376

2023

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Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

Kidney international, 2023-11, Vol.104 (5), p.995-1007

2023

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Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease

Kidney international, 2023-11, Vol.104 (5), p.975-984

2023

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Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

Brain (London, England : 1878), 2023-07, Vol.146 (7), p.2723-2729

2023

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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Brain (London, England : 1878), 2021-03, Vol.144 (2), p.584-600

2021

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A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage

Nature cancer, 2021-06, Vol.2 (6), p.643-657

2021

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The ADAMTS13-VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension

The European respiratory journal, 2019-03, Vol.53 (3), p.1801805

2019

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Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease

Gastroenterology (New York, N.Y. 1943), 2024-05, Vol.166 (5), p.902-914

2024

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Web-based network analysis and visualization using CellMaps

Bioinformatics (Oxford, England), 2016-10, Vol.32 (19), p.3041-3043

2016

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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

Genetics in medicine, 2021-12, Vol.23 (12), p.2360-2368

2021

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Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project

Journal of medical genetics, 2022-08, Vol.59 (8), p.737-747

2022

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Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

Babelomics 5.0: functional interpretation for new generations of genomic data

Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

Shared and Distinct Genomics of Chronic Thromboembolic Pulmonary Hypertension and Pulmonary Embolism

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

AA.VV. (2022). Fortius. Fortificaciones en el extremo occidental norteafricano: Instituto de Estudios Ceutíes. ISBN: 978-84-18642-17-3

Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality

Autoimmunity Is a Significant Feature of Idiopathic Pulmonary Arterial Hypertension

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage

The ADAMTS13-VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension

Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease

Web-based network analysis and visualization using CellMaps

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project

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