Departamento de Ciencias Forenses, Anatomía Patológica, Ginecología y Obstetricia y Pediatría
Departamento
University of California, San Francisco
San Francisco, Estados UnidosPublicaciones en colaboración con investigadores/as de University of California, San Francisco (21)
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Adeno-associated virus 2 infection in children with non-A–E hepatitis
Nature, Vol. 617, Núm. 7961, pp. 555-563
2022
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Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842
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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Nature Genetics, Vol. 54, Núm. 9, pp. 1320-1331
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Real-Life Use of Ceftolozane/Tazobactam for the Treatment of Bloodstream Infection Due to Pseudomonas aeruginosa in Neutropenic Hematologic Patients: a Matched Control Study (ZENITH Study)
Microbiology Spectrum, Vol. 10, Núm. 3
2020
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Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study
The Lancet Neurology, Vol. 19, Núm. 10, pp. 840-848
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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
Cell, Vol. 180, Núm. 3, pp. 568-584.e23
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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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Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder (Nature Neuroscience, (2017), 20, 9, (1217-1224), 10.1038/nn.4598)
Nature Neuroscience
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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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
2017
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Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia
Nature Communications, Vol. 8
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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
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Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Nature Neuroscience, Vol. 20, Núm. 9, pp. 1217-1224
2016
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Pacifiplex: An ancestry-informative SNP panel centred on Australia and the Pacific region
Forensic Science International: Genetics, Vol. 20, pp. 71-80
2015
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Fine mapping of the myosin light chain kinase (MYLK) gene replicates the association with asthma in populations of Spanish descent
Journal of Allergy and Clinical Immunology, Vol. 136, Núm. 4, pp. 1116-1118.e9
2014
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HLA-DRB1∗15:01 allele protects from asthma susceptibility
Journal of Allergy and Clinical Immunology, Vol. 134, Núm. 5, pp. 1201-1203
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Synaptic, transcriptional and chromatin genes disrupted in autism
Nature, Vol. 515, Núm. 7526, pp. 209-215
2013
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Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia
Nature Genetics, Vol. 45, Núm. 8, pp. 868-876