Publicacións en colaboración con investigadores/as de Johns Hopkins University School of Medicine (23)

2024

  1. Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes

    Nature Communications, Vol. 15, Núm. 1

2023

  1. Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries (Nature Genetics, (2023), 55, 1, (89-99), 10.1038/s41588-022-01222-9)

    Nature Genetics

  2. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

    Nature Genetics, Vol. 55, Núm. 1, pp. 89-99

2022

  1. Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease (Nature Communications, (2020), 11, 1, (995), 10.1038/s41467-019-14275-y)

    Nature Communications

  2. Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility

    Nature Genetics, Vol. 54, Núm. 9, pp. 1275-1283

2020

  1. Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

    Nature Communications, Vol. 11, Núm. 1

2018

  1. A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

    Nature Genetics, Vol. 50, Núm. 7, pp. 968-978

2017

  1. Association analysis identifies 65 new breast cancer risk loci

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

  2. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

    Nature Genetics, Vol. 49, Núm. 5, pp. 680-691

  3. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

    American Journal of Human Genetics

  4. NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology

    Scientific Reports, Vol. 7, Núm. 1

  5. The oncoarray consortium: A network for understanding the genetic architecture of common cancers

    Cancer Epidemiology Biomarkers and Prevention, Vol. 26, Núm. 1, pp. 126-135

2014

  1. Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1

    Journal of Molecular Medicine, Vol. 92, Núm. 10, pp. 1045-1056

2012

  1. A missense mutation in PKD1 attenuates the severity of renal disease

    Kidney International, Vol. 81, Núm. 4, pp. 412-417

2010

  1. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Núm. 16, pp. 7401-7406

  2. Pkd1 and Pkd2 are required for normal placental development

    PLoS ONE, Vol. 5, Núm. 9, pp. 1-12

2008

  1. TRPP2 and TRPV4 form a polymodal sensory channel complex

    Journal of Cell Biology, Vol. 182, Núm. 3, pp. 437-447

2007

  1. A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1

    Nature Medicine, Vol. 13, Núm. 12, pp. 1490-1495

  2. Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease

    Molecular Genetics and Metabolism, Vol. 92, Núm. 1-2, pp. 160-167

  3. Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway

    Human Molecular Genetics, Vol. 16, Núm. 16, pp. 1940-1950