Publicaciones científicas

Artículos publicados en 2022

Genome-wide DNA methylation profiling in anorexia nervosa discordant identical twins

C. Iranzo-Tatay, D. Hervas-Marin, L. M. Rojo-Bofill, D. Garcia, F. J. Vaz-Leal, I. Calabria, L. Beato-Fernandez, S. Oltra, J. Sandoval y L. Rojo-Moreno

Translational Psychiatry. 12, Article number: 15 (2022), 2022;

Oncology

Next Generation Sequencing-based gene panel test for a fully integrated diagnosis and genetic risk stratification in onco-hematology

Pablo Gargallo, Merche Molero, Cristina Bilbao, Ruth Stuckey, Estrella Carrillo-Cruz, Lourdes Hermosín, Olga Pérez-López, Antonio Jiménez-Velasco, Elena Soria, Marián Lázaro, Paula Carbonell, Yania Yáñez, Iria Gómez, Marta Izquierdo-García, Jennifer Valero-García, Carlos Ruiz, Esperanza Such, Inés Calabria.

Cancers (Basel). 2022 Apr 14;14(8):1986. doi: 10.3390/cancers14081986. , 2022;

Oncology

Germline variant in CTCF links mental retardation to Wilms tumor predisposition

Pablo Gargallo, Silvestre Oltra, María Tasso, Julia Balaguer, Yania Yáñez, Sandra Dolz, Inés Calabria, Francisco Martínez, Vanessa Segura, Antonio Juan-Ribelles, Margarita Llavador, Victoria Castel, Adela Cañete, Jaime Font de Mora.

European Journal of human genetics. Referencia 568-21-EJHG, 2022;

Immunology

Common Variable Immunodeficiency Associated with a De Novo IKZF1 Variant and a Low Humoral Immune Response to the SARS-CoV-2 Vaccine

Irene Díaz-Alberola, Andrea Espuch-Oliver, José María García-Aznar, Christian Ganoza-Gallardo, María Aguilera-Franco, Antonio Sampedro, Pilar Jiménez and Miguel Ángel López-Nevot.

J. Clin. Med. 2022, 11(9), 2303; https://doi.org/10.3390/jcm11092303, 2022;

Immunology

Mapping the genetic features of T-ALL cases through simplified NGS approach

José María García-Aznar, Sara Alonso, David De Uña Iglesias, Paula López de Ugarriza, Carmen Álvarez López, Milagros Balbín, Teresa Bernal del Castillo

https://doi.org/10.1016/j.clim.2022.109151, 2022;

Artículos publicados en 2021

Oncology

Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care

Pablo Gargallo, Silvestre Oltra, Yania Yáñez, Antonio Juan-Ribelles, Inés Calabria, Vanessa Segura, Marián Lázaro, Julia Balaguer , Teresa Tormo, Sandra Dolz, José María Fernández , Carolina Fuentes, Bárbara Torres, Mara Andrés, María Tasso, Victoria Castel, Jaime Font de Mora, Adela Cañete.

Cancers (Basel). 2021 Oct 24; PMID: 34771502, 2021;

Oncology

Molecular Characterization, Via Next-Generation Sequencing, of Refractory or Resistant Invasive Breast Carcinoma

Patricia Pose Lapausa, Teresa Soria Comes, Inés Calabria, Inmaculada Maestu Maiques

Cureus. Published: November 13, 2021, 2021;

Nephrology

Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1

José María García-Aznar, Noelia Ramírez, David De Uña, Elisa Santiago, Lorenzo Monserrat

J Pediatr Genet 2021; 10(02): 139-146. DOI: 10.1055/s-0040-1710058, 2021;

Artículos publicados en 2022

Genome-wide DNA methylation profiling in anorexia nervosa discordant identical twins

Next Generation Sequencing-based gene panel test for a fully integrated diagnosis and genetic risk stratification in onco-hematology

Germline variant in CTCF links mental retardation to Wilms tumor predisposition

Common Variable Immunodeficiency Associated with a De Novo IKZF1 Variant and a Low Humoral Immune Response to the SARS-CoV-2 Vaccine

Mapping the genetic features of T-ALL cases through simplified NGS approach

Artículos publicados en 2021

Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care

Molecular Characterization, Via Next-Generation Sequencing, of Refractory or Resistant Invasive Breast Carcinoma

Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1

Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure.

Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant.

Dilated cardiomyopathy and mild limb girdle muscular dystrophy caused by the p.Gly424Ser genetic variant in the fukutin gene.

A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome.

Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry.

Electrocardiogram Changes in the Spectrum of TTNtv Dilated Cardiomyopathy: Accuracy and Predictive Value of a New Index for LV-Changes Identification.

Retinoblastoma and mosaic 13q deletion: a case report.

Muscle weakness, joint laxity and keloids. A more than suggestive association.

Artículos publicados en 2020

Cancer testis antigens in myelodysplastic syndromes revisited: a targeted RNA-seq approach.Oncoimmunology

Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Preventing Sudden Death in Arrhythmogenic Cardiomyopathy: Careful Family and Genetic Evaluation Key to Appropriate Diagnosis and Management.

Novel Filamin C missense mutation associated with severe restrictive cardiomyopathy overlapping with left ventricular non-compaction.

Protein haploinsufficiency drivers identify MYBPC3 mutations that cause hypertrophic cardiomyopathy.

The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals.

Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene.

Clinical utility of genetic testing in patients with dilated cardiomyopathy.

Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers.

Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.

Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.

Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy.

Prognostic implications of pathogenic truncating variants in the TTN gene.

Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy.

Pharmacogenomics and Cardiovascular Disease: Where are We and Where do We go from Here?.

Desarrollo y validación de un panel de secuenciación masiva en paralelo para farmacogenética clínica.

Artículos publicados en 2019

Incomplete Mass Phenotype: Description of a New Pathogenic Variant of the Fibrillin-1 Gene.

Direct CDKN2 Modulation of CDK4 Alters Target Engagement of CDK4 Inhibitor Drugs.

Risk Stratification in Patients With Nonisquemic Dilated Cardiomyopathy. The Role of Genetic Testing.

Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives: Evidence for a Change in Paradigm.

Electrophysiological abnormalities in induced pluripotent stem cell-derived cardiomyocytes generated from Duchenne muscular dystrophy patients.

Response by Sheikh et al to Letter Regarding Article, ‘Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion’.

Exploring Haploinssuficiency Drivers in a Set of cMyBP-C Missense Mutations Causing Hypertrophic Cardiomyopathy.

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.

Earlier relapse detection after allogeneic haematopoietic stem cell transplantation by chimerism assays: Digital PCR versus quantitative real-time PCR of insertion/deletion polymorphisms.

Artículos publicados en 2018

Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.

Differential diagnosis of thickened myocardium: an illustrative MRI review.

Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.

Usefulness of genetic diagnosis in a woman with hypertrophic cardiomyopathy and the desire for motherhood: information is key.

Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations.

A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome.

Computerized registry of patients with hemorrhagic hereditary telangiectasia (RiHHTa Registry) in Spain: Objectives, methods, and preliminary results.

The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease – A systematic literature review by a European panel of experts.

Diagnostic Yield of Genetic Testing in Young Athletes with T-wave Inversion.

Interplay Between Genetic Substrate, QTc Duration, and Arrhythmia Risk in Patients With Long QT Syndrome.

Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation.

Artículos publicados en 2017

Modulation of SHBG binding to testosterone and estradiol by sex and morbid obesity.

Effect of age on pro-inflammatory miRNAs contained in mesenchymal stem cell-derived extracellular vesicles.

Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy.

Corrigendum: Effect of age on pro-inflammatory miRNAs contained in mesenchymal stem cell-derived extracellular vesicles.

Clinical Exome Sequencing: Results from 2819 Samples Reflecting 1000 Families.

Direct Oral Anticoagulants in Patients with Hypertrophic Cardiomyopathy and Atrial Fibrillation.

Artículos publicados en 2016

Inverted U-Shaped Relation Between the Risk of Sudden Cardiac Death and Maximal Left Ventricular Wall Thickness in Hypertrophic Cardiomyopathy.

Genetics of Dyslipidemia.

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.

Predictors of Atrial Fibrillation in Hypertrophic Cardiomyopathy.

Idiopathic Restrictive Cardiomyopathy Is Primarily a Genetic Disease.

European Cardiomyopathy Pilot Registry: EURObservational Research Programme of the European Society of Cardiology.

Genetic Basis of Familial Dilated Cardiomyopathy Patients Undergoing Heart Transplantation.

Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.

The Structural Effects of Mutations Can Aid in Differential Phenotype Prediction of Beta-Myosin Heavy Chain (Myosin-7) Missense Variants.

Validation of the 2014 European Society of Cardiology Sudden Cardiac Death Risk Prediction Model in Hypertrophic Cardiomyopathy in a Reference Center in South America.

Genetic Evaluation, Familial Screening and Exercise.

Extensa Familia con Síndrome de Marfan en la que se Demuestra la Patogenicidad de una Variante «Sinónima» (p.Ile2118=) en el Gen de la Fibrilina 1.

Artículos publicados en 2015

Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study).

Prediction of Thrombo-Embolic Risk in Patients with Hypertrophic Cardiomyopathy (HCM Risk-CVA).