A next-generation sequencing method for gene doping detection that distinguishes low levels of plasmid DNA against a background of genomic DNA

por de Boer, Eddy N., van der Wouden, Petra E., Johansson, Lennart F., van Diemen, Cleo C., Haisma, Hidde J.
Publicado 2019

NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing

por Johansson, Lennart F., de Weerd, Hendrik A., de Boer, Eddy N., van Dijk, Freerk, te Meerman, Gerard J., Sijmons, Rolf H., Sikkema-Raddatz, Birgit, Swertz, Morris A.
Publicado 2018

Ten quick tips for building FAIR workflows

por de Visser, Casper, Johansson, Lennart F., Kulkarni, Purva, Mei, Hailiang, Neerincx, Pieter, Joeri van der Velde, K., Horvatovich, Péter, van Gool, Alain J., Swertz, Morris A., Hoen, Peter A. C. ‘t, Niehues, Anna
Publicado 2023

A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature

por van der Velde, K. Joeri, van den Hoek, Sander, van Dijk, Freerk, Hendriksen, Dennis, van Diemen, Cleo C., Johansson, Lennart F., Abbott, Kristin M., Deelen, Patrick, Sikkema‐Raddatz, Birgit, Swertz, Morris A.
Publicado 2020

NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results

por Sikkema-Raddatz, Birgit, Johansson, Lennart F., de Boer, Eddy N., Boon, Elles M. J., Suijkerbuijk, Ron F., Bouman, Katelijne, Bilardo, Catia M., Swertz, Morris A., Dijkstra, Martijn, van Langen, Irene M., Sinke, Richard J., te Meerman, Gerard J.
Publicado 2016

Clinical Value of EGFR Copy Number Gain Determined by Amplicon-Based Targeted Next Generation Sequencing in Patients with EGFR-Mutated NSCLC

por Wei, Jiacong, Meng, Pei, Terpstra, Miente Martijn, van Rijk, Anke, Tamminga, Menno, Scherpen, Frank, ter Elst, Arja, Alimohamed, Mohamed Z., Johansson, Lennart F., Stigt, Jos, Gijtenbeek, Rolof P. G., van Putten, John, Hiltermann, T. Jeroen N., Groen, Harry J. M., Kok, Klaas, van der Wekken, Anthonie J., van den Berg, Anke
Publicado 2021

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

por Rump, Patrick, Jazayeri, Omid, van Dijk-Bos, Krista K., Johansson, Lennart F., van Essen, Anthonie J., Verheij, Johanna B. G. M., Veenstra-Knol, Hermine E., Redeker, Egbert J. W., Mannens, Marcel M. A. M., Swertz, Morris A., Alizadeh, Behrooz Z., van Ravenswaaij-Arts, Conny M. A., Sinke, Richard J., Sikkema-Raddatz, Birgit
Publicado 2016

The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research

por Salgado, David, Armean, Irina M., Baudis, Michael, Beltran, Sergi, Capella-Gutierrez, Salvador, Carvalho-Silva, Denise, Dominguez Del Angel, Victoria, Dopazo, Joaquin, Furlong, Laura I., Gao, Bo, Garcia, Leyla, Gerloff, Dietlind, Gut, Ivo, Gyenesei, Attila, Habermann, Nina, Hancock, John M., Hanauer, Marc, Hovig, Eivind, Johansson, Lennart F., Keane, Thomas, Korbel, Jan, Lauer, Katharina B., Laurie, Steve, Leskošek, Brane, Lloyd, David, Marques-Bonet, Tomas, Mei, Hailiang, Monostory, Katalin, Piñero, Janet, Poterlowicz, Krzysztof, Rath, Ana, Samarakoon, Pubudu, Sanz, Ferran, Saunders, Gary, Sie, Daoud, Swertz, Morris A., Tsukanov, Kirill, Valencia, Alfonso, Vidak, Marko, Yenyxe González, Cristina, Ylstra, Bauke, Béroud, Christophe
Publicado 2020

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

por Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, de Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J, Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, van Eyndhoven, Winfried, Halley, Dicky JJ, van den Hout, Mirjam CGN, van Hove, Steven, Johansson, Lennart F, Jongbloed, Jan DH, Kamps, Rick, Kockx, Christel EM, de Koning, Bart, Kriek, Marjolein, Deprez, Ronald Lekanne dit, Lunstroo, Hans, Mannens, Marcel, Mook, Olaf R, Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J, Sinke, Richard, Sistermans, Erik, van Slegtenhorst, Marjon, Sleutels, Frank, van der Stoep, Nienke, van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Weiss, Janneke Marjan, van den Wijngaard, Arthur, van Workum, Wilbert, Ijntema, Helger, van der Zwaag, Bert, van IJcken, Wilfred FJ, den Dunnen, Johan T, Veltman, Joris A, Hennekam, Raoul, Cuppen, Edwin
Publicado 2015

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

por Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, de Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J, Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, van Eyndhoven, Winfried, Halley, Dicky J J, van den Hout, Mirjam C G N, van Hove, Steven, Johansson, Lennart F, Jongbloed, Jan D H, Kamps, Rick, Kockx, Christel E M, de Koning, Bart, Kriek, Marjolein, Lekanne dit Deprez, Ronald, Lunstroo, Hans, Mannens, Marcel, Mook, Olaf R, Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J, Sinke, Richard, Sistermans, Erik, van Slegtenhorst, Marjon, Sleutels, Frank, van der Stoep, Nienke, van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Marjan Weiss, Janneke, van den Wijngaard, Arthur, van Workum, Wilbert, Ijntema, Helger, van der Zwaag, Bert, van IJcken, Wilfred FJ, den Dunnen, Johan, Veltman, Joris A, Hennekam, Raoul, Cuppen, Edwin
Publicado 2015