Transposons passively and actively contribute to evolution of the two-speed genome of a fungal pathogen

por Faino, Luigi, Seidl, Michael F., Shi-Kunne, Xiaoqian, Pauper, Marc, van den Berg, Grardy C.M., Wittenberg, Alexander H.J., Thomma, Bart P.H.J.
Publicado en Genome Res (2016)

Genome-wide association study reveals novel genetic locus associated with intra-individual variability in response time

por Pinar, Ari, Hawi, Ziarih, Cummins, Tarrant, Johnson, Beth, Pauper, Marc, Tong, Janette, Tiego, Jeggan, Finlay, Amy, Klein, Marieke, Franke, Barbara, Fornito, Alex, Bellgrove, Mark A.
Publicado en Transl Psychiatry (2018)

Genetic screening for macular dystrophies in patients clinically diagnosed with dry age‐related macular degeneration

por Kersten, Eveline, Geerlings, Maartje J., Pauper, Marc, Corominas, Jordi, Bakker, Bjorn, Altay, Lebriz, Fauser, Sascha, de Jong, Eiko K., Hoyng, Carel B., den Hollander, Anneke I.
Publicado en Clin Genet (2018)

Long-read trio sequencing of individuals with unsolved intellectual disability

por Pauper, Marc, Kucuk, Erdi, Wenger, Aaron M., Chakraborty, Shreyasee, Baybayan, Primo, Kwint, Michael, van der Sanden, Bart, Nelen, Marcel R., Derks, Ronny, Brunner, Han G., Hoischen, Alexander, Vissers, Lisenka E. L. M., Gilissen, Christian
Publicado en Eur J Hum Genet (2020)

Correction: Long-read trio sequencing of individuals with unsolved intellectual disability

por Pauper, Marc, Kucuk, Erdi, Wenger, Aaron M., Chakraborty, Shreyasee, Baybayan, Primo, Kwint, Michael, van der Sanden, Bart, Nelen, Marcel R., Derks, Ronny, Brunner, Han G., Hoischen, Alexander, Vissers, Lisenka E. L. M., Gilissen, Christian
Publicado en Eur J Hum Genet (2021)

A case–control genome-wide association study of ADHD discovers a novel association with the tenascin R (TNR) gene

por Hawi, Ziarih, Yates, Hannah, Pinar, Ari, Arnatkeviciute, Aurina, Johnson, Beth, Tong, Janette, Pugsley, Kealan, Dark, Callum, Pauper, Marc, Klein, Marieke, Heussler, Helen S., Hiscock, Harriet, Fornito, Alex, Tiego, Jeggan, Finlay, Amy, Vance, Alasdair, Gill, Michael, Kent, Lindsey, Bellgrove, Mark A.
Publicado en Transl Psychiatry (2018)

Family-based exome sequencing identifies rare coding variants in age-related macular degeneration

por Ratnapriya, Rinki, Acar, İlhan E, Geerlings, Maartje J, Branham, Kari, Kwong, Alan, Saksens, Nicole T M, Pauper, Marc, Corominas, Jordi, Kwicklis, Madeline, Zipprer, David, Starostik, Margaret R, Othman, Mohammad, Yashar, Beverly, Abecasis, Goncalo R, Chew, Emily Y, Ferrington, Deborah A, Hoyng, Carel B, Swaroop, Anand, den Hollander, Anneke I
Publicado en Hum Mol Genet (2020)

Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch’s Membrane

por Corominas, Jordi, Colijn, Johanna M., Geerlings, Maartje J., Pauper, Marc, Bakker, Bjorn, Amin, Najaf, Lores Motta, Laura, Kersten, Eveline, Garanto, Alejandro, Verlouw, Joost A.M., van Rooij, Jeroen G.J., Kraaij, Robert, de Jong, Paulus T.V.M., Hofman, Albert, Vingerling, Johannes R., Schick, Tina, Fauser, Sascha, de Jong, Eiko K., van Duijn, Cornelia M., Hoyng, Carel B., Klaver, Caroline C.W., den Hollander, Anneke I.
Publicado en Ophthalmology (2018)

Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing

por Corominas, Jordi, Klein, Marieke, Zayats, Tetyana, Rivero, Olga, Ziegler, Georg C., Pauper, Marc, Neveling, Kornelia, Poelmans, Geert, Jansch, Charline, Svirin, Evgeniy, Geissler, Julia, Weber, Heike, Reif, Andreas, Arias Vasquez, Alejandro, Galesloot, Tessel E., Kiemeney, Lambertus A. L. M., Buitelaar, Jan K., Ramos-Quiroga, Josep-Antoni, Cormand, Bru, Ribasés, Marta, Hveem, Kristian, Gabrielsen, Maiken Elvestad, Hoffmann, Per, Cichon, Sven, Haavik, Jan, Johansson, Stefan, Jacob, Christian P., Romanos, Marcel, Franke, Barbara, Lesch, Klaus-Peter
Publicado en Mol Psychiatry (2018)

Association of Genetic Variants With Response to Anti–Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration

por Lorés-Motta, Laura, Riaz, Moeen, Grunin, Michelle, Corominas, Jordi, van Asten, Freekje, Pauper, Marc, Leenders, Mathieu, Richardson, Andrea J., Muether, Philipp, Cree, Angela J., Griffiths, Helen L., Pham, Connie, Belanger, Marie-Claude, Meester-Smoor, Magda A., Ali, Manir, Heid, Iris M., Fritsche, Lars G., Chakravarthy, Usha, Gale, Richard, McKibbin, Martin, Inglehearn, Chris F., Schlingemann, Reinier O., Omar, Amer, Chen, John, Koenekoop, Robert K., Fauser, Sascha, Guymer, Robyn H., Hoyng, Carel B., de Jong, Eiko K., Lotery, Andrew J., Mitchell, Paul, den Hollander, Anneke I., Baird, Paul N., Chowers, Itay
Publicado en JAMA Ophthalmol (2018)