Artigos (29) Publicacións nas que participase algún/ha investigador/a

2017

  1. A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia

    American Journal of Human Genetics, Vol. 101, Núm. 1, pp. 87-103

  2. Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

    PLoS ONE, Vol. 12, Núm. 8

  3. Adenosine A 2A receptor regulation of microglia morphological remodeling-gender bias in physiology and in a model of chronic anxiety

    Molecular Psychiatry, Vol. 22, Núm. 7, pp. 1035-1043

  4. Association analysis identifies 65 new breast cancer risk loci

    Nature, Vol. 551, Núm. 7678, pp. 92-94

  5. Candidate predisposing germline copy number variants in early onset colorectal cancer patients

    Clinical and Translational Oncology, Vol. 19, Núm. 5, pp. 625-632

  6. Clinical features and long-term progression of reticular pseudodrusen in agerelated macular degeneration: Findings from a multicenter cohort

    Eye (Basingstoke), Vol. 31, Núm. 3, pp. 364-371

  7. Diabetic Choroidopathy: Choroidal Vascular Density and Volume in Diabetic Retinopathy With Swept-Source Optical Coherence Tomography

    American Journal of Ophthalmology, Vol. 184, pp. 75-83

  8. Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants

    Molecular Diagnosis and Therapy, Vol. 21, Núm. 3, pp. 303-313

  9. Functional and structural findings of neurodegeneration in early stages of diabetic retinopathy: Cross-sectional analyses of baseline data of the EUROCONDOR project

    Diabetes, Vol. 66, Núm. 9, pp. 2503-2510

  10. Genetic analysis in post-mortem samples with micro-ischemic alterations

    Forensic Science International, Vol. 271, pp. 120-125

  11. Gene–environment interactions involving functional variants: Results from the Breast Cancer Association Consortium

    International Journal of Cancer, Vol. 141, Núm. 9, pp. 1830-1840

  12. Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility

    Nature Communications, Vol. 8, Núm. 1

  13. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778

  14. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

    American Journal of Human Genetics, Vol. 101, Núm. 6, pp. 985-994

  15. Multi-centre assessment of nitroblue tetrazolium reactivity in human semen as a potential marker of oxidative stress

    Reproductive BioMedicine Online, Vol. 34, Núm. 5, pp. 513-521

  16. PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36

    Movement Disorders, Vol. 32, Núm. 2, pp. 264-273

  17. PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

    Clinical Genetics, Vol. 92, Núm. 5, pp. 534-539

  18. POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer

    Oncotarget, Vol. 8, Núm. 16, pp. 26732-26743

  19. Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection

    International Journal of Legal Medicine, Vol. 131, Núm. 5, pp. 1211-1219

  20. Prevalence of spinocerebellar ataxia 36 in a US population

    Neurology: Genetics, Vol. 3, Núm. 4