Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia e Pediatría
Departamento
University of Manchester
Mánchester, Reino UnidoPublicacións en colaboración con investigadores/as de University of Manchester (31)
2024
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Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Genetics in Medicine, Vol. 26, Núm. 4
2022
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A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy
Communications Biology, Vol. 5, Núm. 1
2021
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Breast cancer risk genes - Association analysis in more than 113,000 women
New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439
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Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk
Journal of the National Cancer Institute, Vol. 113, Núm. 3, pp. 329-337
2019
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Nature Communications, Vol. 10, Núm. 1
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Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)
Nature Genetics
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Erratum to: Germline variation at 8q24 and prostate cancer risk in men of European ancestry (Nature Communications, (2018), 9, 1, (4616), 10.1038/s41467-018-06863-1)
Nature Communications
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Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Nature Genetics, Vol. 51, Núm. 3, pp. 414-430
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Genome-wide association study of germline variants and breast cancer-specific mortality
British Journal of Cancer, Vol. 120, Núm. 6, pp. 647-657
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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 93-106
2018
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Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders (Journal of Inherited Metabolic Disease, (2016), 39, 5, (661-672), 10.1007/s10545-016-9938-9)
Journal of Inherited Metabolic Disease
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Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)
Journal of Inherited Metabolic Disease
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Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants
Nature Communications, Vol. 9, Núm. 1
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Germline variation at 8q24 and prostate cancer risk in men of European ancestry
Nature Communications, Vol. 9, Núm. 1
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Respiratory syncytial virus seasonality: A global overview
Journal of Infectious Diseases, Vol. 217, Núm. 9, pp. 1356-1364
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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ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
Scientific Reports, Vol. 7
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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778
2016
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Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
Journal of Inherited Metabolic Disease, Vol. 39, Núm. 5, pp. 661-672