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

per 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
Publicat a Eur J Hum Genet (2017)

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

per 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.
Publicat a Nat Commun (2017)

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

per 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
Publicat a Hum Mol Genet (2018)