Publicaciones en colaboración con investigadores/as de Radboud University Nijmegen Medical Centre (76)

2024

  1. Minimal information for studies of extracellular vesicles (MISEV2023): From basic to advanced approaches

    Journal of Extracellular Vesicles, Vol. 13, Núm. 2

  2. Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan

    Experimental Eye Research, Vol. 244

  3. Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review

    Journal of neuromuscular diseases, Vol. 11, Núm. 3, pp. 567-577

  4. Stratified analyses refine association between TLR7 rare variants and severe COVID-19

    Human Genetics and Genomics Advances, Vol. 5, Núm. 4

  5. Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients

    Human Genetics and Genomics Advances, Vol. 5, Núm. 3

2023

  1. 267th ENMC International workshop: psychological interventions for improving quality of life in slowly progressive neuromuscular disorders

    Neuromuscular Disorders

  2. A TGFβ-ECM-integrin signaling axis drives structural reconfiguration of the bile duct to promote polycystic liver disease

    Science translational medicine, Vol. 15, Núm. 713, pp. eabq5930

  3. ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease

    Frontiers in Genetics, Vol. 14

  4. Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients

    Genes, Vol. 14, Núm. 8

  5. Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights

    European Urology, Vol. 84, Núm. 1, pp. 127-137

  6. Germline mutations in WNK2 could be associated with serrated polyposis syndrome

    Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 557-567

  7. Radiomics in Hypopharyngeal Cancer Management: A State-of-the-Art Review †

    Biomedicines, Vol. 11, Núm. 3

  8. Stoma-free survival after anastomotic leak following rectal cancer resection: worldwide cohort of 2470 patients

    British Journal of Surgery, Vol. 110, Núm. 12, pp. 1863-1876

  9. Survival Outcomes in T3 Laryngeal Cancers: Primary Total Laryngectomy vs. Concurrent Chemoradiation or Radiation Therapy—A Meta-Analysis †

    Biomedicines, Vol. 11, Núm. 8

2022

  1. Benign Peripheral Non-cranial Nerve Sheath Tumors of the Neck

    Advances in Therapy, Vol. 39, Núm. 8, pp. 3449-3471

  2. Genetics, pathobiology and therapeutic opportunities of polycystic liver disease

    Nature Reviews Gastroenterology and Hepatology, Vol. 19, Núm. 9, pp. 585-604

  3. Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

    Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842

  4. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

  5. Prevalence Estimates of Amyloid Abnormality Across the Alzheimer Disease Clinical Spectrum

    JAMA Neurology, Vol. 79, Núm. 3, pp. 228-243

  6. SUCCOR quality: validation of ESGO quality indicators for surgical treatment of cervical cancer

    International Journal of Gynecological Cancer, Vol. 32, Núm. 10, pp. 1236-1243