Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Universidad de Buenos Aires
Buenos Aires, ArgentinaPublicacións en colaboración con investigadores/as de Universidad de Buenos Aires (10)
2022
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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
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Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
Genetics in Medicine, Vol. 24, Núm. 1, pp. 119-129
2018
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Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and breast/ovarian) cancer susceptibility genes: An international survey by the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) clinical working group
JCO Precision Oncology, Vol. 2
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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
Human Mutation, Vol. 39, Núm. 5, pp. 593-620
2013
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Breast cancer genes: Beyond BRCA1 and BRCA2
Frontiers in Bioscience, Vol. 18, Núm. 4, pp. 1358-1372
2012
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Reconstructing Native American population history
Nature, Vol. 488, Núm. 7411, pp. 370-374
2009
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A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: Data on 15 Iberian and Latin American populations
International Journal of Legal Medicine, Vol. 123, Núm. 3, pp. 227-234
2005
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Mutation rates at Y chromosome specific microsatellites
Human Mutation, Vol. 26, Núm. 6, pp. 520-528
2004
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The EDNAP mitochondrial DNA population database (EMPOP) collaborative exercises: Organisation, results and perspectives
Forensic Science International, Vol. 139, Núm. 2-3, pp. 215-226
2001
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Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes
Forensic Science International