Publicaciones científicas

Published articles in 2024

Dissecting secondary immunodeficiency: Identification of primary immunodeficiency within B-Cell lymphoproliferative disorders

María Palacios-Ortega, Teresa Guerra-Galán, Adolfo Jiménez-Huete, José María García-Aznar, Marc Pérez-Guzmán, Maria Dolores Mansilla-Ruiz, Ángela Villegas Mendiola, Cristina Pérez López, Elsa Mayol Hornero, Alejandro Peixoto Rodriguez, Ascensión Peña Cortijo, Marta Polo Zarzuela, Marta Mateo Morales, Eduardo Anguita Mandly, Maria Cruz Cárdenas, Alejandra Carrero, Carlos Jiménez García, Estefanía Bolaños, Belén Íñigo, Fiorella Medina, Eduardo de la Fuente, Juliana Ochoa-Grullón, Blanca García-Solís, Yolanda García-Carmona, Miguel Fernández-Arquero, Celina Benavente-Cuesta, Rebeca Pérez de Diego, Nicholas Rider, Silvia Sánchez-Ramón

PMCID: PMC11499357 PMID: 39441407, 2024;

Published articles in 2024

Dissecting secondary immunodeficiency: Identification of primary immunodeficiency within B-Cell lymphoproliferative disorders

Rare Genetic Variants in Young Adults Requiring Pacemaker Implantation

Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers

Pivotal role of BCL11B in the immune, hematopoietic and nervous systems: a review of the BCL11B-associated phenotypes from the genetic perspective

Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction

Published articles in 2023

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

A multi-omics dataset for the analysis of frontotemporal dementia genetic subtypes

Titin domains with reduced core hydrophobicity cause dilated cardiomyopathy

Novel frameshift variants expand the map of the genetic defects in IRF2BP2

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

iPSC-Based modeling of variable clinical presentation in hypertrophic cardiomyopathy

Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant

Titin Missense Variants as a Cause of Familial Dilated Cardiomyopathy

Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy

Personalized medicine in infant population with cancer: Pharmacogenetic pilot study of polymorphisms related to toxicity and response to chemotherapy

Published articles in 2022

Genetic analysis of clozapine metabolism in a patient with subtherapeutic clozapine plasma concentrations-The importance of CYP3A5: A case report

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

Incidence, management experience and characteristics of patients with giardiasis and common variable immunodeficiency

Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology

Natural History of MYH7-Related Dilated Cardiomyopathy

Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy

Cannabinoid signaling modulation through JZL184 restores key phenotypes of a mouse model for Williams-Beuren syndrome

European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases

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

Combination of late gadolinium enhancement and genotype improves prediction of prognosis in non-ischaemic dilated cardiomyopathy

Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain

Next-Generation DNA Sequencing-Based Gene Panel for 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

Combining familial hypercholesterolemia and statin genetic studies as a strategy for the implementation of pharmacogenomics. A multidisciplinary approach

Current status of precision medicine in pediatric oncology in Spain: a consensus report by the Spanish Society of Paediatric Haematology and Oncology (SEHOP)

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

Pharmacogenetics in Neuroblastoma: What Can Already Be Clinically Implemented and What Is Coming Next?

Published articles in 2021

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

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

A familiar study on self-limited childhood epilepsy patients using hIPSC-derived neurons shows a bias towards immaturity at the morphological, electrophysiological and gene expression levels

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

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.

Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy

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

Results of the implementation of a pharmacogenomics platform based on NGS technologies. Combining clinical and research approaches

Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology

Association of feft ventricular systolic dysfunction among carriers of truncating variants in filamin C with frequent ventricular arrhythmia and end-stage heart failure

Next-Generation Sequencing Identifies Potential Actionable Targets in Paediatric Sarcomas

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

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

Prognostic value of reduced heart rate reserve during exercise in hypertrophic cardiomyopathy

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

Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia

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

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

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

Published articles in 2020

Development and validation of a next-generation sequencing panel for clinical pharmacogenetics

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

Published articles in 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