I+D como motor para la mejora continua de nuestros servicios

En Health in Code hemos creado un repositorio de datos genómicos y clínicos para mejorar la precisión de nuestros diagnósticos. Nuestra base de datos única aglutina información relevante de más de más de 400.000 casos y pone al servicio de los pacientes más de 25 años de experiencia en cardiología y oncología.

+400.000

casos

+20

años

+90.000

ARTÍCULOS EVALUADOS

Nuestras últimas publicaciones científicas

Nephrology

Genetic study in young patients with chronic kidney disease stage G5 from unknown etiology. The GENSEN study design

Miquel Blasco, Borja Quiroga, José M. García-Aznar, Roser Torra, Alberto Ortiz, Patricia de Sequera y Grupo colaborativo GENSEN

https://doi.org/10.1016/j.nefro.2023.09.002, 2023;

Pharmacogenetics

Predicting clozapine dose required to achieve a therapeutic plasma concentration – A comparison of a population algorithm and three algorithms based on gene variant models

Taylor D, Cahill C, Wallang P, Millard L, Cela LR, Breen KC.

Journal of Psychopharmacology. 2023;0(0). doi:10.1177/02698811231199104, 2023;

Oncology

Genomic characterization and tumor evolution in paired samples of metaplastic breast carcinoma

Agostina Stradella, Pablo Gargallo, Mónica Cejuela, Anna Petit, Jan Bosch-Schips, Paula Carbonell, Sabela Recalde, Andrea Vethencourt, Adela Fernandez-Ortega, Catalina Falo, Miguel Gil-Gil, Silvia Vázquez, Verónica Obadia, Rafael Villanueva-Vázquez , Teresa Soler-Monsó, Inés Calabria, Sonia Pernas

Modern Pathology. Reference: MP-21-1071-A, 2022;

Nephrology

New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3

José María García-Aznar, Luis De la Higuera, Lara Besada Cerecedo, Nerea Paz Gandiaga, Ana Isabel Vega, Gema Fernández-Fresnedo and Domingo González-Lamuño

J. Clin. Med. 2022, 11(16), 4883; https://doi.org/10.3390/jcm11164883 Received: 19 May 2022 / Revised: 27 July 2022 / Accepted: 12 August 2022 / Published: 19 August 2022, 2022;

Cardiology

Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

Luis R. Lopes, Soledad Garcia-Hernández, Massimiliano Lorenzini, Marta Futema, Olga Chumakova, Dmitry Zateyshchikov, Maria Isidoro-Garcia, Eduardo Villacorta, Luis Escobar-Lopez, Pablo Garcia-Pavia, Raquel Bilbao, David Dobarro, Maria Sandin-Fuentes, Claudio Catalli, Blanca Gener Querol, Ainhoa Mezcua, Jose Garcia Pinilla, Torsten Bloch Rasmussen, Ana Ferreira-Aguar, Pablo Revilla-Martín, Maria Teresa Basurte Elorz, Alicia Bautista Paves, Juan Ramon Gimeno, Ana Virginia Figueroa, Raul Franco-Gutierrez, Maria Eugenia Fuentes-Canamero, Marina Martinez Moreno, Martin Ortiz-Genga, Jesus Piqueras-Flores, Karina Analia Ramos, Ainars Rudzitis, Luis Ruiz-Guerrero, Ricardo Stein, Mayte Triguero-Bocharán, Luis de la Higuera, Juan Pablo Ochoa, Dad Abu-Bonsrah, Cecilia Y.T. Kwok, Jacob B. Smith, Enzo R. Porrello, Mohammed M. Akhtar, Joanna Jager, Michael Ashworth, Petros Syrris, David A. Elliott, Lorenzo Monserrat, and Perry M. Elliott.

European Heart Journal (2021) 42, 3063–3073. doi:10.1093/eurheartj/ehab424, 2021;

Oncology

Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors.

Paula Martínez-Fernández, Patricia Pose, Raquel Dolz-Gaitón, Arantxa García, Inmaculada Trigo-Sánchez, Enrique Rodríguez-Zarco, MJose Garcia-Ruiz, Ibon Barba, Marta Izquierdo-García, Jennifer Valero-Garcia, Carlos Ruiz, Marián Lázaro, Paula Carbonell, Pablo Gargallo, Carlos Méndez, Juan José Ríos-Martín, Alberto Palmeiro-Uriach, Natalia Camarasa-Lillo, Jerónimo Forteza-Vila, Inés Calabria.

J Pers Med. 2021 Apr 29;11(5):360. doi: 10.3390/jpm11050360., 2021;

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Trabajando en un futuro mejor

En Health in Code apostamos por un modelo de innovación abierta desarrollando nuestra estrategia de I+D en cooperación con hospitales y centros de investigación.

BIOPSIA LÍQUIDA

A través de un proyecto de Compra Pública Innovadora, estamos desarrollando un prototipo para identificar biomarcadores en sangre que nos permitan diagnosticar precozmente, así como personalizar y monitorizar el tratamiento de pacientes oncológicos afectos de tumores sólidos de mama y colón en estadios tempranos y metastásicos.

PROTEÓMICA

Apostamos por el uso combinado de herramientas genómicas para tener una visión holística en el manejo de los pacientes

ANÁLISIS DEL GENOMA

Trabajamos en el desarrollo de un análisis más rápido y eficaz del genoma para dar un mejor servicio a pacientes de UCIs pediátricas y atender casos no resueltos mediante otras tecnologías.

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contigo

En Health in Code apostamos por un modelo de innovación abierta desarrollando nuestra estrategia de I+D en cooperación con hospitales y centros de investigación

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I+D como motor para la mejora continua de nuestros servicios

Nuestras últimas publicaciones científicas

Genetic study in young patients with chronic kidney disease stage G5 from unknown etiology. The GENSEN study design

Predicting clozapine dose required to achieve a therapeutic plasma concentration – A comparison of a population algorithm and three algorithms based on gene variant models

Genomic characterization and tumor evolution in paired samples of metaplastic breast carcinoma

New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3

Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors.

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.