Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Johns Hopkins University School of Medicine
Baltimore, Estados UnidosPublicacións en colaboración con investigadores/as de Johns Hopkins University School of Medicine (23)
2024
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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
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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
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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
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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
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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
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Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease
Nature Communications, Vol. 11, Núm. 1
2018
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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
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Association analysis identifies 65 new breast cancer risk loci
Nature, Vol. 551, Núm. 7678, pp. 92-94
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Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
Nature Genetics, Vol. 49, Núm. 5, pp. 680-691
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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
American Journal of Human Genetics
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NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology
Scientific Reports, Vol. 7, Núm. 1
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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
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Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1
Journal of Molecular Medicine, Vol. 92, Núm. 10, pp. 1045-1056
2012
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A missense mutation in PKD1 attenuates the severity of renal disease
Kidney International, Vol. 81, Núm. 4, pp. 412-417
2010
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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
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Pkd1 and Pkd2 are required for normal placental development
PLoS ONE, Vol. 5, Núm. 9, pp. 1-12
2008
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TRPP2 and TRPV4 form a polymodal sensory channel complex
Journal of Cell Biology, Vol. 182, Núm. 3, pp. 437-447
2007
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A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1
Nature Medicine, Vol. 13, Núm. 12, pp. 1490-1495
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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
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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