Publicacións (33) Publicacións nas que participase algún/ha investigador/a

2015

  1. An efficient screening method for simultaneous detection of recurrent copy number variants associated with psychiatric disorders

    Clinica Chimica Acta, Vol. 445, pp. 34-40

  2. Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types

    Journal of the National Cancer Institute, Vol. 107, Núm. 12

  3. Autism Spectrum Disorders: Translating human deficits into mouse behavior

    Neurobiology of Learning and Memory, Vol. 124, pp. 71-87

  4. Autism spectrum symptoms in Smith-Magenis syndrome and Williams syndrome: Comparisons and contrasts

    International Journal of Developmental Disabilities, Vol. 61, Núm. 1, pp. 49-55

  5. BigBWA: Approaching the Burrows-Wheeler aligner to Big Data technologies

    Bioinformatics, Vol. 31, Núm. 24, pp. 4003-4005

  6. Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia

    Heart Rhythm, Vol. 12, Núm. 7, pp. 1636-1643

  7. Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

    Clinical Research in Cardiology, Vol. 104, Núm. 4, pp. 288-303

  8. Completion of a worldwide reference panel of samples for an ancestry informative Indel assay

    Forensic Science International: Genetics, Vol. 17, pp. 75-80

  9. Determining the Pathogenicity of Genetic Variants Associated with Cardiac Channelopathies

    Scientific Reports, Vol. 5

  10. Diagnostic accuracy of sperm DNA degradation index (DDSi) as a potential noninvasive biomarker to identify men with varicocele-associated infertility

    International Urology and Nephrology, Vol. 47, Núm. 9, pp. 1471-1477

  11. Differential role of the proteasome in the early and late phases of BDNF-induced facilitation of LTP

    Journal of Neuroscience, Vol. 35, Núm. 8, pp. 3319-3329

  12. Exploration of SNP variants affecting hair colour prediction in Europeans

    International Journal of Legal Medicine, Vol. 129, Núm. 5, pp. 963-975

  13. Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 12, pp. 3121-3129

  14. Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant

    Seizure, Vol. 25, pp. 65-67

  15. Genetic analysis of arrhythmogenic diseases in the era of NGS: The complexity of clinical decision-making in Brugada Syndrome

    PLoS ONE, Vol. 10, Núm. 7

  16. Genetic analysis, in silico prediction, and family segregation in long QT syndrome

    European Journal of Human Genetics, Vol. 23, Núm. 1, pp. 79-85

  17. Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series

    International Journal of Legal Medicine, Vol. 129, Núm. 3, pp. 495-504

  18. Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 12, pp. 3113-3120

  19. Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors

    International Journal of Cancer, Vol. 136, Núm. 6, pp. E685-E696

  20. Localisation and quantification of alkali-labile sites in human spermatozoa by DNA breakage detection-fluorescence in situ hybridisation

    Andrologia, Vol. 47, Núm. 2, pp. 221-227