Publikationen in Zusammenarbeit mit Forschern von Institució Catalana de Recerca i Estudis Avançats (67)

2024

  1. Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia

    Aging Cell

  2. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

  3. Sex differences in neural projections of fear memory processing in mice and humans

    Science Advances, Vol. 10, Núm. 28

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Application of new technologies in embryos: From gene editing to synthetic embryos

    Human Reproductive and Prenatal Genetics (Elsevier), pp. 853-886

  3. ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

    Genome medicine, Vol. 15, Núm. 1, pp. 68

  4. Erratum to: Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)

    Nature

  5. Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia

    European Journal of Neurology, Vol. 30, Núm. 12, pp. 3828-3833

  6. Pathogenic Mis-splicing of CPEB4 in Schizophrenia

    Biological Psychiatry, Vol. 94, Núm. 4, pp. 341-351

  7. Serum DNA methylome of the colorectal cancer serrated pathway enables non-invasive detection

    Molecular Oncology

  8. Serum methylation of GALNT9, UPF3A, WARS, and LDB2 as noninvasive biomarkers for the early detection of colorectal cancer and advanced adenomas

    Clinical Epigenetics, Vol. 15, Núm. 1

  9. Spastic Paraplegia Type 7 (SPG7)

    Essentials of Cerebellum and Cerebellar Disorders: A Primer For Graduate Students, Second Edition (Springer International Publishing), pp. 691-695

2022

  1. Detailed stratified GWAS analysis for severe COVID-19 in four European populations

    Human Molecular Genetics, Vol. 31, Núm. 23, pp. 3945-3966

  2. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

    Neurology, Vol. 98, Núm. 9, pp. E912-E923

  3. Look-alike humans identified by facial recognition algorithms show genetic similarities

    Cell Reports, Vol. 40, Núm. 8

  4. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

2021

  1. Adrenergic Modulation With Photochromic Ligands

    Angewandte Chemie - International Edition, Vol. 60, Núm. 7, pp. 3625-3631

  2. Follow-up study confirms the presence of gastric cancer dna methylation hallmarks in high-risk precursor lesions

    Cancers, Vol. 13, Núm. 11

  3. Genomic analysis of 18th-century kazakh individuals and their oral microbiome

    Biology, Vol. 10, Núm. 12

  4. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382