Medicina Xenómica
GMX - USC
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Hospital Universitario La Fe
Valencia, EspañaPublicacións en colaboración con investigadores/as de Hospital Universitario La Fe (20)
2023
2022
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CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
Clinical genetics, Vol. 101, Núm. 5-6, pp. 481-493
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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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Long runs of homozygosity are associated with Alzheimer’s disease
Translational Psychiatry, Vol. 11, Núm. 1
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Spread of a SARS-CoV-2 variant through Europe in the summer of 2020
Nature, Vol. 595, Núm. 7869, pp. 707-712
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The first wave of the COVID-19 epidemic in Spain was associated with early introductions and fast spread of a dominating genetic variant
Nature Genetics, Vol. 53, Núm. 10, pp. 1405-1414
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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Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection
International Journal of Legal Medicine, Vol. 131, Núm. 5, pp. 1211-1219
2013
2012
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COGENT (COlorectal cancer GENeTics) revisited
Mutagenesis, Vol. 27, Núm. 2, pp. 143-151
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Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer
Breast Cancer Research and Treatment, Vol. 132, Núm. 1, pp. 307-315
2011
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A two-phase case-control study for colorectal cancer genetic susceptibility: Candidate genes from chromosomal regions 9q22 and 3q22
British Journal of Cancer, Vol. 105, Núm. 6, pp. 870-875
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Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome
BMC Medical Genetics, Vol. 12
2010
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Colorectal cancer susceptibility quantitative trait loci in mice as a novel approach to detect low-penetrance variants in humans: A two-stage case-control study
Cancer Epidemiology Biomarkers and Prevention, Vol. 19, Núm. 2, pp. 619-623
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Single nucleotide polymorphisms in the wnt and bmp pathways and colorectal cancer risk in a spanish cohort
PLoS ONE, Vol. 5, Núm. 9, pp. 1-9
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Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype
Gastroenterology, Vol. 139, Núm. 3
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The genomics serving pediatrics in the investigation of the multifactorial disease
Acta Pediatrica Espanola, Vol. 68, Núm. 2, pp. 55-60
2009
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Association of MUTYH and MSH6 germline mutations in colorectal cancer patients
Familial Cancer, Vol. 8, Núm. 4, pp. 525-531