Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia e Pediatría
Fachbereich
University of Pennsylvania
Filadelfia, Estados UnidosPublikationen in Zusammenarbeit mit Forschern von University of Pennsylvania (20)
2023
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
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
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
2017
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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
2015
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Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes
Orphanet Journal of Rare Diseases, Vol. 10, Núm. 1
2014
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Ancient human genomes suggest three ancestral populations for present-day Europeans
Nature, Vol. 513, Núm. 7518, pp. 409-413
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Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
Nature Genetics, Vol. 46, Núm. 8, pp. 826-836
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Synaptic, transcriptional and chromatin genes disrupted in autism
Nature, Vol. 515, Núm. 7526, pp. 209-215
2012
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Toward a mtDNA locus-specific mutation database using the LOVD platform
Human Mutation, Vol. 33, Núm. 9, pp. 1352-1358
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