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Author Details

Sergi Beltran
Hospital Universitari Vall d'Hebron
1995
106
31
PMIDPaper TitleJournal TitlePublished Year
37212068Impact of Early Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis: A multicenter Randomized Controlled Trial.J Neuromuscul Dis2023
37992053Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.PLoS One2023
34314351Sleep increases leaks and asynchronies during home noninvasive ventilation: a polysomnographic study.J Clin Sleep Med2022
35444251Higher mortality and intubation rate in COVID-19 patients treated with noninvasive ventilation compared with high-flow oxygen or CPAP.Sci Rep2022
35404224Impact of home CPAP-treated obstructive sleep apnea on COVID-19 outcomes in hospitalized patients.J Clin Sleep Med2022
35811031Plasma exosomes in obesity hypoventilation syndrome patients drive lung cancer cell malignant properties: Effect of long-term adherent CPAP treatment.Biochim Biophys Acta Mol Basis Dis2022
35012964Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.Neurology2022
35312607Effectiveness of CPAP vs. Noninvasive Ventilation Based on Disease Severity in Obesity Hypoventilation Syndrome and Concomitant Severe Obstructive Sleep Apnea.Arch Bronconeumol2022
35312537Cluster Analysis of Home Mechanical Ventilation in COPD Patients: A Picture of the Real World and Its Impact on Mortality.Arch Bronconeumol2022
34755598Risk factors associated with pulmonary hypertension in obesity hypoventilation syndrome.J Clin Sleep Med2022
32273478Genetic lesions in MYC and STAT3 drive oncogenic transcription factor overexpression in plasmablastic lymphoma.Haematologica2021
33752678Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome.Orphanet J Rare Dis2021
33837278Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data.Eur J Hum Genet2021
31562498The ethylene receptors CpETR1A and CpETR2B cooperate in the control of sex determination in Cucurbita pepo.J Exp Bot2020
34367618The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research.F1000Res2020
31757527Quality Assessment of Real-Life Performance of Home Mechanical Ventilators.Arch Bronconeumol (Engl Ed)2020
31873296A call for global action for rare diseases in Africa.Nat Genet2020
31981616A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome.Eur J Med Genet2020
32042920COL4A1-related autosomal recessive encephalopathy in 2 Turkish children.Neurol Genet2020
31980558Diagnostic value of bone marrow core biopsy patterns in lymphoplasmacytic lymphoma/Waldenström macroglobulinaemia and description of its mutational profiles by targeted NGS.J Clin Pathol2020
31682462Echocardiographic Changes with Positive Airway Pressure Therapy in Obesity Hypoventilation Syndrome. Long-Term Pickwick Randomized Controlled Clinical Trial.Am J Respir Crit Care Med2020
33028839Framework for quality assessment of whole genome cancer sequences.Nat Commun2020
33458610Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.iScience2020
32656641Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.J Neurol2020
32787960A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.Orphanet J Rare Dis2020
32581306Predictors of respiratory complications in patients with C5-T5 spinal cord injuries.Spinal Cord2020
32217780Cost-effectiveness of positive airway pressure modalities in obesity hypoventilation syndrome with severe obstructive sleep apnoea.Thorax2020
32214787Exome sequencing identifies <i>PEX6</i> mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.Mol Vis2020
30700761Clonal dynamics monitoring during clinical evolution in chronic lymphocytic leukaemia.Sci Rep2019
31213465Chromosome 12p Amplification in Triple-Negative/<i>BRCA1-</i>Mutated Breast Cancer Associates with Emergence of Docetaxel Resistance and Carboplatin Sensitivity.Cancer Res2019
31520075Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022.Nat Rev Genet2019
31455890Leveraging European infrastructures to access 1 million human genomes by 2022.Nat Rev Genet2019
31231902Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.Hum Mutat2019
31058414Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.Hum Mutat2019
30538135<i>CCND2</i> and <i>CCND3</i> hijack immunoglobulin light-chain enhancers in cyclin D1<sup>-</sup> mantle cell lymphoma.Blood2019
30476213Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.Nucleic Acids Res2019
29311744Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.Nat Neurosci2018
29892042Sleep-disordered breathing, circulating exosomes, and insulin sensitivity in adipocytes.Int J Obes (Lond)2018
30123227Phenomic and Genomic Characterization of a Mutant Platform in <i>Cucurbita pepo</i>.Front Plant Sci2018
29875394Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.Nat Neurosci2018
30381368Heterozygous <i>STUB1</i> mutation causes familial ataxia with cognitive affective syndrome (SCA48).Neurology2018
29396139Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis.J Genet Genomics2018
29704306Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.Am J Med Genet A2018
27862579Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.Hum Mutat2017
28800606Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes.PLoS One2017
27592799Shared Oncogenic Pathways Implicated in Both Virus-Positive and UV-Induced Merkel Cell Carcinomas.J Invest Dermatol2017
28050010Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.Sci Rep2017
28069605Splenic diffuse red pulp small B-cell lymphoma displays increased expression of cyclin D3 and recurrent CCND3 mutations.Blood2017
26923627Protective Cardiovascular Effect of Sleep Apnea Severity in Obesity Hypoventilation Syndrome.Chest2016
26656679Mid- and Long-Term Efficacy of Non-Invasive Ventilation in Obesity Hypoventilation Syndrome: The Pickwick's Study.Arch Bronconeumol2016
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Collaborators

Ivo Gut
Spain Universitat de Barcelona (UB)
Co-authored papers 21
Marta Gut
Universitat de Barcelona (UB)
Co-authored papers 20
Sophia Derdak
Medical University of Vienna
Co-authored papers 13
Hanns Lochm??ller
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 8
Rita Horvath
School of Clinical Medicine, University of Cambridge
Co-authored papers 5
Leslie Matalonga
The Barcelona Institute of Science and Technology
Co-authored papers 5
Alfonso Valencia
Josep Carreras Leukaemia Research Institute (IJC)
Co-authored papers 5
Rachel Thompson
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 5
Thomas M Keane
European Bioinformatics Institute
Co-authored papers 5
Simon Heath
Barcelona Institute of Science and Technology (BIST)
Co-authored papers 3
Joaqu??n Dopazo
Andalusian Public Foundation Progress and Health-FPS
Co-authored papers 3
Michael Baudis
University of Zurich
Co-authored papers 3
Morris A Swertz
University of Groningen, University Medical Center Groningen
Co-authored papers 3
Leigh C Carmody
Center for the Science of Therapeutics, Broad Institute of MIT and Harvard
Co-authored papers 3
Paul Flicek
European Bioinformatics Institute
Co-authored papers 3
Roderic Guig??
Barcelona Institute of Science and Technology
Co-authored papers 3
Gert Matthijs
Center for Human Genetics, KU Leuven and University Hospitals Leuven
Co-authored papers 3
David G??mez-Andr??s
Vall d'Hebron University Hospital and VHIR (Euro-NMD
Co-authored papers 3
Patrick F Chinnery
School of Clinical Medicine, University of Cambridge
Co-authored papers 3
Jan O Korbel
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 3
David Salgado
Co-authored papers 3
Angel Carracedo
Co-authored papers 3
Francesc Castro-Giner
University of Basel and University Hospital Basel
Co-authored papers 3
Gary Saunders
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 3
Salvador Capella-Gutierrez
Spanish National Bioinformatics Institute (INB/ELIXIR-ES)
Co-authored papers 3
Jordi Camps
Universitat Autonoma de Barcelona
Co-authored papers 3
Melissa A Haendel
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 2
Matthias Schlesner
University of Augsburg
Co-authored papers 2
Karl Mechtler
IMP-Institute of Molecular Pathology
Co-authored papers 2
Ilkka Lappalainen
European Bioinformatics Institute
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Release 1.2