G534E Variant in HABP2 and Nonmedullary Thyroid Cancer

av Ruiz-Ferrer, Macarena, Fernández, Raquel M., Navarro, Elena, Antiñolo, Guillermo, Borrego, Salud
I publikationen Thyroid (2016)

Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR

av Ruiz-Ferrer, Macarena, Torroglosa, Ana, Núñez-Torres, Rocío, de Agustín, Juan Carlos, Antiñolo, Guillermo, Borrego, Salud
Publicerad 2011

Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease

av Villalba-Benito, Leticia, Torroglosa, Ana, Fernández, Raquel María, Ruíz-Ferrer, Macarena, Moya-Jiménez, María José, Antiñolo, Guillermo, Borrego, Salud
I publikationen Sci Rep (2017)

Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas

av Luzón-Toro, Berta, Bleda, Marta, Navarro, Elena, García-Alonso, Luz, Ruiz-Ferrer, Macarena, Medina, Ignacio, Martín-Sánchez, Marta, Gonzalez, Cristina Y., Fernández, Raquel M., Torroglosa, Ana, Antiñolo, Guillermo, Dopazo, Joaquin, Borrego, Salud
I publikationen BMC Med Genomics (2015)

A map of human microRNA variation uncovers unexpectedly high levels of variability

av Carbonell, José, Alloza, Eva, Arce, Pablo, Borrego, Salud, Santoyo, Javier, Ruiz-Ferrer, Macarena, Medina, Ignacio, Jiménez-Almazán, Jorge, Méndez-Vidal, Cristina, González-del Pozo, María, Vela, Alicia, Bhattacharya, Shomi S, Antiñolo, Guillermo, Dopazo, Joaquín
Publicerad 2012

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease

av Luzón-Toro, Berta, Gui, Hongsheng, Ruiz-Ferrer, Macarena, Sze-Man Tang, Clara, Fernández, Raquel M., Sham, Pak-Chung, Torroglosa, Ana, Kwong-Hang Tam, Paul, Espino-Paisán, Laura, Cherny, Stacey S., Bleda, Marta, Enguix-Riego, María del Valle, Dopazo, Joaquín, Antiñolo, Guillermo, García-Barceló, María-Mercé, Borrego, Salud
I publikationen Sci Rep (2015)

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation

av Dopazo, Joaquín, Amadoz, Alicia, Bleda, Marta, Garcia-Alonso, Luz, Alemán, Alejandro, García-García, Francisco, Rodriguez, Juan A., Daub, Josephine T., Muntané, Gerard, Rueda, Antonio, Vela-Boza, Alicia, López-Domingo, Francisco J., Florido, Javier P., Arce, Pablo, Ruiz-Ferrer, Macarena, Méndez-Vidal, Cristina, Arnold, Todd E., Spleiss, Olivia, Alvarez-Tejado, Miguel, Navarro, Arcadi, Bhattacharya, Shomi S., Borrego, Salud, Santoyo-López, Javier, Antiñolo, Guillermo
I publikationen Mol Biol Evol (2016)

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

av Gui, Hongsheng, Schriemer, Duco, Cheng, William W., Chauhan, Rajendra K., Antiňolo, Guillermo, Berrios, Courtney, Bleda, Marta, Brooks, Alice S., Brouwer, Rutger W. W., Burns, Alan J., Cherny, Stacey S., Dopazo, Joaquin, Eggen, Bart J. L., Griseri, Paola, Jalloh, Binta, Le, Thuy-Linh, Lui, Vincent C. H., Luzón-Toro, Berta, Matera, Ivana, Ngan, Elly S. W., Pelet, Anna, Ruiz-Ferrer, Macarena, Sham, Pak C., Shepherd, Iain T., So, Man-Ting, Sribudiani, Yunia, Tang, Clara S. M., van den Hout, Mirjam C. G. N., van der Linde, Herma C., van Ham, Tjakko J., van IJcken, Wilfred F. J., Verheij, Joke B. G. M., Amiel, Jeanne, Borrego, Salud, Ceccherini, Isabella, Chakravarti, Aravinda, Lyonnet, Stanislas, Tam, Paul K. H., Garcia-Barceló, Maria-Mercè, Hofstra, Robert M. W.
I publikationen Genome Biol (2017)