BacTag - a pipeline for fast and accurate gene and allele typing in bacterial sequencing data based on database preprocessing

Por Khachatryan, Lusine, Kraakman, Margriet E. M., Bernards, Alexandra T., Laros, Jeroen F. J.
Publicado no BMC Genomics (2019)

A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form

Por Laros, Jeroen F J, Blavier, André, den Dunnen, Johan T, Taschner, Peter E M
Publicado em 2011

SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing

Por Pulyakhina, Irina, Gazzoli, Isabella, ’t Hoen, Peter A.C., Verwey, Nisha, den Dunnen, Johan, Aartsma-Rus, Annemieke, Laros, Jeroen F.J.
Publicado no Nucleic Acids Res (2015)

SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing

Por Pulyakhina, Irina, Gazzoli, Isabella, Hoen, Peter A.C.'t, Verwey, Nisha, den Dunnen, Johan T., Aartsma-Rus, Annemieke, Laros, Jeroen F.J.
Publicado no Nucleic Acids Res (2015)

Non-sequential and multi-step splicing of the dystrophin transcript

Por Gazzoli, Isabella, Pulyakhina, Irina, Verwey, Nisha E., Ariyurek, Yavuz, Laros, Jeroen F. J., 't Hoen, Peter A. C., Aartsma-Rus, Annemieke
Publicado no RNA Biol (2015)

Exome Sequencing of Germline DNA from Non-BRCA1/2 Familial Breast Cancer Cases Selected on the Basis of aCGH Tumor Profiling

Por Hilbers, Florentine S., Meijers, Caro M., Laros, Jeroen F. J., van Galen, Michiel, Hoogerbrugge, Nicoline, Vasen, Hans F. A., Nederlof, Petra M., Wijnen, Juul T., van Asperen, Christi J., Devilee, Peter
Publicado em 2013

Annotating Transcriptional Effects of Genetic Variants in Disease‐Relevant Tissue: Transcriptome‐Wide Allelic Imbalance in Osteoarthritic Cartilage

Por den Hollander, Wouter, Pulyakhina, Irina, Boer, Cindy, Bomer, Nils, van der Breggen, Ruud, Arindrarto, Wibowo, Couthino de Almeida, Rodrigo, Lakenberg, Nico, Sentner, Thom, Laros, Jeroen F. J., ‘t Hoen, Peter A. C., Slagboom, Eline P. E., Nelissen, Rob G. H. H., van Meurs, Joyce, Ramos, Yolande F. M., Meulenbelt, Ingrid
Publicado no Arthritis Rheumatol (2019)

Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck

Por Li, Mingkun, Rothwell, Rebecca, Vermaat, Martijn, Wachsmuth, Manja, Schröder, Roland, Laros, Jeroen F.J., van Oven, Mannis, de Bakker, Paul I.W., Bovenberg, Jasper A., van Duijn, Cornelia M., van Ommen, Gert-Jan B., Slagboom, P. Eline, Swertz, Morris A., Wijmenga, Cisca, Kayser, Manfred, Boomsma, Dorret I., Zöllner, Sebastian, de Knijff, Peter, Stoneking, Mark
Publicado no Genome Res (2016)

Brain Transcriptomic Analysis of Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type

Por Grand Moursel, Laure, van Roon-Mom, Willeke M. C., Kiełbasa, Szymon M., Mei, Hailiang, Buermans, Henk P. J., van der Graaf, Linda M., Hettne, Kristina M., de Meijer, Emile J., van Duinen, Sjoerd G., Laros, Jeroen F. J., van Buchem, Mark A., ‘t Hoen, Peter A. C., van der Maarel, Silvère M., van der Weerd, Louise
Publicado no Front Aging Neurosci (2018)

Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients

Por Jansen, Anne M. L., Geilenkirchen, Marije A., van Wezel, Tom, Jagmohan-Changur, Shantie C., Ruano, Dina, van der Klift, Heleen M., van den Akker, Brendy E. W. M., Laros, Jeroen F. J., van Galen, Michiel, Wagner, Anja, Letteboer, Tom G. W., Gómez-García, Encarna B., Tops, Carli M. J., Vasen, Hans F., Devilee, Peter, Hes, Frederik J., Morreau, Hans, Wijnen, Juul T.
Publicado no PLoS One (2016)

The Implicitome: A Resource for Rationalizing Gene-Disease Associations

Por Hettne, Kristina M., Thompson, Mark, van Haagen, Herman H. H. B. M., van der Horst, Eelke, Kaliyaperumal, Rajaram, Mina, Eleni, Tatum, Zuotian, Laros, Jeroen F. J., van Mulligen, Erik M., Schuemie, Martijn, Aten, Emmelien, Li, Tong Shu, Bruskiewich, Richard, Good, Benjamin M., Su, Andrew I., Kors, Jan A., den Dunnen, Johan, van Ommen, Gert-Jan B., Roos, Marco, ‘t Hoen, Peter A.C., Mons, Barend, Schultes, Erik A.
Publicado no PLoS One (2016)

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

Por Fokkema, Ivo F. A. C., van der Velde, Kasper J., Slofstra, Mariska K., Ruivenkamp, Claudia A. L., Vogel, Maartje J., Pfundt, Rolph, Blok, Marinus J., Lekanne Deprez, Ronald H., Waisfisz, Quinten, Abbott, Kristin M., Sinke, Richard J., Rahman, Rubayte, Nijman, Isaäc J., de Koning, Bart, Thijs, Gert, Wieskamp, Nienke, Moritz, Ruben J. G., Charbon, Bart, Saris, Jasper J., den Dunnen, Johan T., Laros, Jeroen F. J., Swertz, Morris A., van Gijn, Marielle E.
Publicado no Hum Mutat (2019)

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Por Sun, Yu, Bak, Beata, Schoenmakers, Nadia, van Trotsenburg, A.S. Paul, Oostdijk, Wilma, Voshol, Peter, Cambridge, Emma, White, Jacqueline K., le Tissier, Paul, Gharavy, S. Neda Mousavy, Martinez-Barbera, Juan P., Stokvis-Brantsma, Wilhelmina H., Vulsma, Thomas, Kempers, Marlies J., Persani, Luca, Campi, Irene, Bonomi, Marco, Beck-Peccoz, Paolo, Zhu, Hongdong, Davis, Timothy M.E., Hokken-Koelega, Anita C.S., Del Blanco, Daria Gorbenko, Rangasami, Jayanti J., Ruivenkamp, Claudia A.L., Laros, Jeroen F.J., Kriek, Marjolein, Kant, Sarina G., Bosch, Cathy A.J., Biermasz, Nienke R., Appelman-Dijkstra, Natasha M., Corssmit, Eleonora P., Hovens, Guido C.J., Pereira, Alberto M., den Dunnen, Johan T., Wade, Michael G., Breuning, Martijn H., Hennekam, Raoul C., Chatterjee, Krishna, Dattani, Mehul T., Wit, Jan M., Bernard, Daniel J.
Publicado em 2012

The Genome of the Netherlands: design, and project goals

Por Boomsma, Dorret I, Wijmenga, Cisca, Slagboom, Eline P, Swertz, Morris A, Karssen, Lennart C, Abdellaoui, Abdel, Ye, Kai, Guryev, Victor, Vermaat, Martijn, van Dijk, Freerk, Francioli, Laurent C, Hottenga, Jouke Jan, Laros, Jeroen F J, Li, Qibin, Li, Yingrui, Cao, Hongzhi, Chen, Ruoyan, Du, Yuanping, Li, Ning, Cao, Sujie, van Setten, Jessica, Menelaou, Androniki, Pulit, Sara L, Hehir-Kwa, Jayne Y, Beekman, Marian, Elbers, Clara C, Byelas, Heorhiy, de Craen, Anton J M, Deelen, Patrick, Dijkstra, Martijn, den Dunnen, Johan T, de Knijff, Peter, Houwing-Duistermaat, Jeanine, Koval, Vyacheslav, Estrada, Karol, Hofman, Albert, Kanterakis, Alexandros, Enckevort, David van, Mai, Hailiang, Kattenberg, Mathijs, van Leeuwen, Elisabeth M, Neerincx, Pieter B T, Oostra, Ben, Rivadeneira, Fernanodo, Suchiman, Eka H D, Uitterlinden, Andre G, Willemsen, Gonneke, Wolffenbuttel, Bruce H, Wang, Jun, de Bakker, Paul I W, van Ommen, Gert-Jan, van Duijn, Cornelia M
Publicado em 2014

Differential roles of epigenetic changes and Foxp3 expression in regulatory T cell-specific transcriptional regulation

Por Morikawa, Hiromasa, Ohkura, Naganari, Vandenbon, Alexis, Itoh, Masayoshi, Nagao-Sato, Sayaka, Kawaji, Hideya, Lassmann, Timo, Carninci, Piero, Hayashizaki, Yoshihide, Forrest, Alistair R. R., Standley, Daron M., Date, Hiroshi, Sakaguchi, Shimon, Forrest, Alistair R.R., Kawaji, Hideya, Rehli, Michael, Baillie, J. Kenneth, de Hoon, Michiel J.L., Haberle, Vanja, Lassmann, Timo, Kulakovskiy, Ivan V., Lizio, Marina, Itoh, Masayoshi, Andersson, Robin, Mungall, Christopher J., Meehan, Terrence F., Schmeier, Sebastian, Bertin, Nicolas, Jørgensen, Mette, Dimont, Emmanuel, Arner, Erik, Schmidl, Christian, Schaefer, Ulf, Medvedeva, Yulia A., Plessy, Charles, Vitezic, Morana, Severin, Jessica, Semple, Colin A., Ishizu, Yuri, Francescatto, Margherita, Alam, Intikhab, Albanese, Davide, Altschuler, Gabriel M., Archer, John A.C., Arner, Peter, Babina, Magda, Baker, Sarah, Balwierz, Piotr J., Beckhouse, Anthony G., Pradhan-Bhatt, Swati, Blake, Judith A., Blumenthal, Antje, Bodega, Beatrice, Bonetti, Alessandro, Briggs, James, Brombacher, Frank, Burroughs, A. Maxwell, Califano, Andrea, Cannistraci, Carlo V., Carbajo, Daniel, Chen, Yun, Chierici, Marco, Ciani, Yari, Clevers, Hans C., Dalla, Emiliano, Davis, Carrie A., Deplancke, Bart, Detmar, Michael, Diehl, Alexander D., Dohi, Taeko, Drabløs, Finn, Edge, Albert S.B., Edinger, Matthias, Ekwall, Karl, Endoh, Mitsuhiro, Enomoto, Hideki, Fagiolini, Michela, Fairbairn, Lynsey, Fang, Hai, Farach-Carson, Mary C., Faulkner, Geoffrey J., Favorov, Alexander V., Fisher, Malcolm E., Frith, Martin C., Fujita, Rie, Fukuda, Shiro, Furlanello, Cesare, Furuno, Masaaki, Furusawa, Jun-ichi, Geijtenbeek, Teunis B., Gibson, Andrew, Gingeras, Thomas, Goldowitz, Daniel, Gough, Julian, Guhl, Sven, Guler, Reto, Gustincich, Stefano, Ha, Thomas J., Hamaguchi, Masahide, Hara, Mitsuko, Harbers, Matthias, Harshbarger, Jayson, Hasegawa, Akira, Hasegawa, Yuki, Hashimoto, Takehiro, Herlyn, Meenhard, Hitchens, Kelly J., Sui, Shannan J. Ho, Hofmann, Oliver M., Hoof, Ilka, Hori, Fumi, Huminiecki, Lukasz, Iida, Kei, Ikawa, Tomokatsu, Jankovic, Boris R., Jia, Hui, Joshi, Anagha, Jurman, Giuseppe, Kaczkowski, Bogumil, Kai, Chieko, Kaida, Kaoru, Kaiho, Ai, Kajiyama, Kazuhiro, Kanamori-Katayama, Mutsumi, Kasianov, Artem S., Kasukawa, Takeya, Katayama, Shintaro, Kato, Sachi, Kawaguchi, Shuji, Kawamoto, Hiroshi, Kawamura, Yuki I., Kawashima, Tsugumi, Kempfle, Judith S., Kenna, Tony J., Kere, Juha, Khachigian, Levon M., Kitamura, Toshio, Klinken, S. Peter, Knox, Alan J., Kojima, Miki, Kojima, Soichi, Kondo, Naoto, Koseki, Haruhiko, Koyasu, Shigeo, Krampitz, Sarah, Kubosaki, Atsutaka, Kwon, Andrew T., Laros, Jeroen F.J., Lee, Weonju, Lennartsson, Andreas, Li, Kang, Lilje, Berit, Lipovich, Leonard, Mackay-sim, Alan, Manabe, Ri-ichiroh, Mar, Jessica C., Marchand, Benoit, Mathelier, Anthony, Mejhert, Niklas, Meynert, Alison, Mizuno, Yosuke, Morais, David A. de Lima, Morikawa, Hiromasa, Morimoto, Mitsuru, Moro, Kazuyo, Motakis, Efthymios, Motohashi, Hozumi, Mummery, Christine L., Murata, Mitsuyoshi, Nagao-Sato, Sayaka, Nakachi, Yutaka, Nakahara, Fumio, Nakamura, Toshiyuki, Nakamura, Yukio, Nakazato, Kenichi, van Nimwegen, Erik, Ninomiya, Noriko, Nishiyori, Hiromi, Noma, Shohei, Nozaki, Tadasuke, Ogishima, Soichi, Ohkura, Naganari, Ohmiya, Hiroko, Ohno, Hiroshi, Ohshima, Mitsuhiro, Okada-Hatakeyama, Mariko, Okazaki, Yasushi, Orlando, Valerio, Ovchinnikov, Dmitry A., Pain, Arnab, Passier, Robert, Patrikakis, Margaret, Persson, Helena, Piazza, Silvano, Prendergast, James G.D., Rackham, Owen J.L., Ramilowski, Jordan A., Rashid, Mamoon, Ravasi, Timothy, Rizzu, Patrizia, Roncador, Marco, Roy, Sugata, Rye, Morten B., Saijyo, Eri, Sajantila, Antti, Saka, Akiko, Sakaguchi, Shimon, Sakai, Mizuho, Sato, Hiroki, Satoh, Hironori, Savvi, Suzana, Saxena, Alka, Schneider, Claudio, Schultes, Erik A., Schulze-Tanzil, Gundula G., Schwegmann, Anita, Sengstag, Thierry, Sheng, Guojun, Shimoji, Hisashi, Shimoni, Yishai, Shin, Jay W., Simon, Christophe, Sugiyama, Daisuke, Sugiyama, Takaaki, Suzuki, Masanori, Swoboda, Rolf K., 't Hoen, Peter A.C., Tagami, Michihira, Takahashi, Naoko, Takai, Jun, Tanaka, Hiroshi, Tatsukawa, Hideki, Tatum, Zuotian, Thompson, Mark, Toyoda, Hiroo, Toyoda, Tetsuro, Valen, Eivind, van de Wetering, Marc, van den Berg, Linda M., Verardo, Roberto, Vijayan, Dipti, Vorontsov, Ilya E., Wasserman, Wyeth W., Watanabe, Shoko, Wells, Christine A., Winteringham, Louise N., Wolvetang, Ernst, Wood, Emily J., Yamaguchi, Yoko, Yamamoto, Masayuki, Yoneda, Misako, Yonekura, Yohei, Yoshida, Shigehiro, Zabierowski, Suzan E., Zhang, Peter G., Zhao, Xiaobei, Zucchelli, Silvia, Summers, Kim M., Suzuki, Harukazu, Daub, Carsten O., Kawai, Jun, Heutink, Peter, Hide, Winston, Freeman, Tom C., Lenhard, Boris, Bajic, Vladimir B., Taylor, Martin S., Makeev, Vsevolod J., Sandelin, Albin, Hume, David A., Carninci, Piero, Hayashizaki, Yoshihide
Publicado em 2014