Publicacións en colaboración con investigadores/as de Hospital Regional Universitario de Málaga (14)

2022

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

    Revista Espanola de Cardiologia, Vol. 75, Núm. 3, pp. 242-250

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

  3. Inicio, evolución y situación actual de los Programas de Cribado Neonatal en España

    Revista espanola de salud publica, Vol. 95

2019

  1. Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

    Frontiers in Neuroscience, Vol. 13

2017

  1. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

    Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360

  2. Whole Exome Sequencing reveals new candidate genes in host genomic susceptibility to Respiratory Syncytial Virus Disease

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. Molecular epidemiology, genotype-phenotype correlation and BH 4 responsiveness in Spanish patients with phenylketonuria

    Journal of Human Genetics, Vol. 61, Núm. 8, pp. 731-744

  2. Potential risk for inappropriate dyslipidemia screening in Primary Care in Spain

    Revista del Laboratorio Clinico, Vol. 9, Núm. 2, pp. 48-53

2015

  1. Potential over request in anemia laboratory tests in primary care in Spain

    Hematology, Vol. 20, Núm. 6, pp. 368-373

2014

  1. A study of the differences in the request of glycated hemoglobin in primary care in Spain: A global, significant, and potentially dangerous under-request

    Clinical Biochemistry, Vol. 47, Núm. 12, pp. 1104-1107

  2. Variation in laboratory tests ordered for patients treated in hospital emergency departments

    Emergencias, Vol. 26, Núm. 6, pp. 450-458

2012

  1. Enhanced interpretation of newborn screening results without analyte cutoff values

    Genetics in Medicine, Vol. 14, Núm. 7, pp. 648-655

2011

  1. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

    Genetics in Medicine, Vol. 13, Núm. 3, pp. 230-254