Facultade de Medicina e Odontoloxía
Facultad
University of Pennsylvania
Filadelfia, Estados UnidosPublicacións en colaboración con investigadores/as de University of Pennsylvania (38)
2023
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Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))
Nature communications
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Pre- and postnatal exposure to secondhand tobacco smoke and cardiometabolic risk at 12 years: Periods of susceptibility
Environmental Research, Vol. 224
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World Workshop on Oral Medicine VIII: Dentists’ compliance with infective endocarditis prophylaxis guidelines for patients with high-risk cardiac conditions: a systematic review
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, Vol. 135, Núm. 6, pp. 757-771
2022
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A genome-wide association study of survival in patients with sepsis
Critical Care, Vol. 26, Núm. 1
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Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
PLoS genetics, Vol. 18, Núm. 11, pp. e1010367
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New insights into the genetic etiology of Alzheimer's disease and related dementias
Nature genetics, Vol. 54, Núm. 4, pp. 412-436
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Pre- and postnatal exposure to secondhand tobacco smoke and body composition at 12 years: periods of susceptibility
Obesity, Vol. 30, Núm. 8, pp. 1659-1669
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Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries (Nature, (2022), 611, 7934, (115-123), 10.1038/s41586-022-05165-3)
Nature
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Stroke genetics informs drug discovery and risk prediction across ancestries
Nature, Vol. 611, Núm. 7934, pp. 115-123
2021
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Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
Nature communications, Vol. 12, Núm. 1, pp. 3417
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Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692
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Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates
Endocrine Pathology, Vol. 32, Núm. 1, pp. 77-101
2020
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Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
Scientific Reports, Vol. 10, Núm. 1
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Repositioning of the global epicentre of non-optimal cholesterol
Nature, Vol. 582, Núm. 7810, pp. 73-77
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Use of allergy tests to identify dietary and environmental triggers of eosinophilic esophagitis: protocol for a systematic review
Allergo Journal International, Vol. 29, Núm. 8, pp. 280-283
2019
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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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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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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352
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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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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
Journal of Inherited Metabolic Disease