Publicacións en colaboración con investigadores/as de Universidad de Buenos Aires (10)

2022

  1. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

  2. 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

  1. 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

  2. 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

  1. Breast cancer genes: Beyond BRCA1 and BRCA2

    Frontiers in Bioscience, Vol. 18, Núm. 4, pp. 1358-1372

2012

  1. Reconstructing Native American population history

    Nature, Vol. 488, Núm. 7411, pp. 370-374

2009

  1. 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

  1. Mutation rates at Y chromosome specific microsatellites

    Human Mutation, Vol. 26, Núm. 6, pp. 520-528

2004

  1. 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

  1. Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes

    Forensic Science International