Fundación Pública Galega de Medicina Xenómica
Centro de investigación
Universidad Autónoma de Madrid
Madrid, EspañaPublicacións en colaboración con investigadores/as de Universidad Autónoma de Madrid (31)
2024
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Comparison of the ABC and ACMG systems for variant classification
European Journal of Human Genetics
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Identification of copy-number variants in patients with overgrowth disorders
Clinical Genetics
2023
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A crowdsourcing database for the copy-number variation of the Spanish population
Human Genomics, Vol. 17, Núm. 1
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A second update on mapping the human genetic architecture of COVID-19
Nature
2022
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
2021
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Genomic characterization of host factors related to SARS-CoV-2 infection in people with dementia and control populations: The GR@ACE/DEGESCO study
Journal of Personalized Medicine, Vol. 11, Núm. 12
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Long runs of homozygosity are associated with Alzheimer’s disease
Translational Psychiatry, Vol. 11, Núm. 1
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Tweak signaling pathway blockade slows cyst growth and disease progression in autosomal dominant polycystic kidney disease
Journal of the American Society of Nephrology, Vol. 32, Núm. 8, pp. 1913-1932
2019
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Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project
Alzheimer's and Dementia, Vol. 15, Núm. 10, pp. 1333-1347
2017
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Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
Scientific Reports, Vol. 7, Núm. 1
2015
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Analysis of IGF(CA)19 and IGFBP3-202A/C gene polymorphisms in patients with acromegaly: Association with clinical presentation and response to treatments
European Journal of Endocrinology, Vol. 172, Núm. 2, pp. 115-122
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Autism spectrum symptoms in Smith-Magenis syndrome and Williams syndrome: Comparisons and contrasts
International Journal of Developmental Disabilities, Vol. 61, Núm. 1, pp. 49-55
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Translational value of animal models of kidney failure
European Journal of Pharmacology, Vol. 759, pp. 205-220
2014
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FAS system deregulation in T-cell lymphoblastic lymphoma
Cell Death and Disease, Vol. 5, Núm. 3
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Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case-control sample from Spain
Schizophrenia Research, Vol. 159, Núm. 1, pp. 107-113
2013
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Association of thromboxane A1 synthase (TBXAS1) gene polymorphism with acute urticaria induced by nonsteroidal anti-inflammatory drugs
Journal of Allergy and Clinical Immunology, Vol. 132, Núm. 4, pp. 989-991
2012
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Cognitive functioning in children and adults with Smith-Magenis syndrome
European Journal of Medical Genetics, Vol. 55, Núm. 6-7, pp. 394-399
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Genetic epistasis in female suicide attempters
Progress in Neuro-Psychopharmacology and Biological Psychiatry, Vol. 38, Núm. 2, pp. 294-301
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How executive functions are related to intelligence in Williams syndrome
Research in Developmental Disabilities, Vol. 33, Núm. 4, pp. 1169-1175
2011
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Electrochemical DNA base pairs quantification and endonuclease cleavage detection
Biosensors and Bioelectronics, Vol. 27, Núm. 1, pp. 40-45