Grupo de Investigación

• Pairo-Castineira E., Rawlik K., Bretherick A.D., Qi T., Wu Y., Nassiri I. et al. Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 (Nature, (2023), 617, 7962, (764-768), 10.1038/s41586-023-06034-3). Nature. 2023;619(7971):E61.
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• Wilcox N., Dumont M., Gonzalez-Neira A., Carvalho S., Joly Beauparlant C., Crotti M. et al. Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk. Nature Genetics. 2023;.
  PUBMED DOI
• Wilcox N., Dumont M., Gonzalez-Neira A., Carvalho S., Joly Beauparlant C., Crotti M. et al. Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk (Nature Genetics, (2023), 55, 9, (1435-1439), 10.1038/s41588-023-01466-z). Nature Genetics. 2023;55(11):2009.
  PUBMED DOI
• Toribio-Fernandez R., Tristao-Pereira C., Carlos Silla-Castro J., Callejas S., Oliva B., Fernandez-Nueda I. et al. Apolipoprotein E-ϵ2 and Resistance to Atherosclerosis in Midlife: The PESA Observational Study. Circulation Research. 2024;134(4):411-424.
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• Uberoi D., Dalpe G., Cheung K., Kondrup E., Palmour N., Arawi T. et al. The Key Features of a Genetic Nondiscrimination Policy: A Delphi Consensus Statement. JAMA network open. 2024;7(9):e2435355.
  PUBMED DOI
• Duenas Rey A., del Pozo Valero M., Bouckaert M., Wood K.A., Van den Broeck F., Varela M.D. et al. Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease. Genome Medicine. 2024;16(1).
  PUBMED DOI
• Quinodoz M., Kaminska K., Cancellieri F., Han J.H., Peter V.G., Celik E. et al. Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads. American Journal of Human Genetics. 2024;111(4):701-713.
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• Karayol R., Borroto M.C., Haghshenas S., Namasivayam A., Reilly J., Levy M.A. et al. MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. American Journal of Human Genetics. 2024;.
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• Malka S., Biswas P., Berry A.-M., Sangermano R., Ullah M., Lin S. et al. Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression. American journal of human genetics. 2024;111(9):2012-2030.
  PUBMED DOI
• Castro-Santos P., Rojas-Martinez A., Riancho J.A., Lapunzina P., Flores C., Carracedo A. et al. HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19. HLA. 2023;.
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Contribuye a la traslación a la práctica clínica en ER (Oftalmología, Oncología, Neurociencias, Cardiovascular, Malformaciones, Discapacidad Intelectual, Salud Reproductiva/Fetal) desarrollando y validando algoritmos y técnicas diagnósticas, así como terapias y estrategias de prevención, para el cuidado integral de los pacientes.