A framework for the detection of de novo mutations in family-based sequencing data

Por Francioli, Laurent C, Cretu-Stancu, Mircea, Garimella, Kiran V, Fromer, Menachem, Kloosterman, Wigard P, Samocha, Kaitlin E, Neale, Benjamin M, Daly, Mark J, Banks, Eric, DePristo, Mark A, de Bakker, Paul IW
Publicado no Eur J Hum Genet (2017)

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

Por Cretu Stancu, Mircea, van Roosmalen, Markus J., Renkens, Ivo, Nieboer, Marleen M., Middelkamp, Sjors, de Ligt, Joep, Pregno, Giulia, Giachino, Daniela, Mandrile, Giorgia, Espejo Valle-Inclan, Jose, Korzelius, Jerome, de Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E., Marschall, Tobias, de Ridder, Jeroen, Kloosterman, Wigard P.
Publicado no Nat Commun (2017)

Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis

Por Kuiper, Jonas J W, van Setten, Jessica, Devall, Matthew, Cretu-Stancu, Mircea, Hiddingh, Sanne, Ophoff, Roel A, Missotten, Tom O A R, van Velthoven, Mirjam, Den Hollander, Anneke I, Hoyng, Carel B, James, Edward, Reeves, Emma, Cordero-Coma, Miguel, Fonollosa, Alejandro, Adán, Alfredo, Martín, Javier, Koeleman, Bobby P C, de Boer, Joke H, Pulit, Sara L, Márquez, Ana, Radstake, Timothy R D J
Publicado no Hum Mol Genet (2018)