Genetic
Service
Publications by the researcher in collaboration with Inés Quintela García (11)
2024
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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Long runs of homozygosity are associated with Alzheimer’s disease
Translational Psychiatry, Vol. 11, Núm. 1
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
2016
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Comprehensive molecular testing in patients with high functioning autism spectrum disorder
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, Vol. 784-785, pp. 46-52
2015
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Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion
American Journal of Medical Genetics, Part A, Vol. 167, Núm. 12, pp. 3121-3129
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Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder
American Journal of Medical Genetics, Part A, Vol. 167, Núm. 12, pp. 3113-3120
2010
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A new approach to long QT syndrome mutation detection by Sequenom MassARRAY® system
Electrophoresis, Vol. 31, Núm. 10, pp. 1648-1655
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New technologies in the genetic approach to sudden cardiac death in the young
Forensic Science International, Vol. 203, Núm. 1-3, pp. 15-24
2009
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Sequenom MassArray™ application in the long QT syndrome mutation detection
Forensic Science International: Genetics Supplement Series, Vol. 2, Núm. 1, pp. 497-498