De novo mutations in mental retardation

by Veltman, Joris A
Published 2011

De novo diagnostics of patients with intellectual disability

by Veltman, Joris A
Published 2012

From genes to genomes in the clinic

by Veltman, Joris A., Lupski, James R.
Published 2015

Unlocking Mendelian disease using exome sequencing

by Gilissen, Christian, Hoischen, Alexander, Brunner, Han G, Veltman, Joris A
Published 2011

Clinical exome sequencing in daily practice: 1,000 patients and beyond

by van Zelst-Stams, Wendy A, Scheffer, Hans, Veltman, Joris A
Published 2014

New insights into the generation and role of de novo mutations in health and disease

by Acuna-Hidalgo, Rocio, Veltman, Joris A., Hoischen, Alexander
Published 2016

Novel bioinformatic developments for exome sequencing

by Lelieveld, Stefan H., Veltman, Joris A., Gilissen, Christian
Published 2016

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions

by Lelieveld, Stefan H., Spielmann, Malte, Mundlos, Stefan, Veltman, Joris A., Gilissen, Christian
Published 2015

Pyrosequencing of 16S rRNA gene amplicons to study the microbiota in the gastrointestinal tract of carp (Cyprinus carpio L.)

by van Kessel, Maartje AHJ, Dutilh, Bas E, Neveling, Kornelia, Kwint, Michael P, Veltman, Joris A, Flik, Gert, Jetten, Mike SM, Klaren, Peter HM, Op den Camp, Huub JM
Published 2011

An integrated framework of personalized medicine: from individual genomes to participatory health care

by Evers, Andrea W.M., Rovers, Maroeska M., Kremer, Jan A.M., Veltman, Joris A., Schalken, Jack A., Bloem, Bas R., van Gool, Alain J.
Published 2012

Mobster: accurate detection of mobile element insertions in next generation sequencing data

by Thung, Djie Tjwan, de Ligt, Joep, Vissers, Lisenka EM, Steehouwer, Marloes, Kroon, Mark, de Vries, Petra, Slagboom, Eline P, Ye, Kai, Veltman, Joris A, Hehir-Kwa, Jayne Y
Published 2014

STAT1 Hyperphosphorylation and Defective IL12R/IL23R Signaling Underlie Defective Immunity in Autosomal Dominant Chronic Mucocutaneous Candidiasis

by Smeekens, Sanne P., Plantinga, Theo S., van de Veerdonk, Frank L., Heinhuis, Bas, Hoischen, Alexander, Joosten, Leo A. B., Arkwright, Peter D., Gennery, Andrew, Kullberg, Bart Jan, Veltman, Joris A., Lilic, Desa, van der Meer, Jos W. M., Netea, Mihai G.
Published 2011

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

by de Ligt, Joep, Boone, Philip M., Pfundt, Rolph, Vissers, Lisenka E.L.M., de Leeuw, Nicole, Shaw, Christine, Brunner, Han G., Lupski, James R., Veltman, Joris A., Hehir-Kwa, Jayne Y.
Published 2014

Exome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability

by Agha, Zehra, Iqbal, Zafar, Azam, Maleeha, Ayub, Humaira, Vissers, Lisenka E. L. M., Gilissen, Christian, Ali, Syeda Hafiza Benish, Riaz, Moeen, Veltman, Joris A., Pfundt, Rolph, van Bokhoven, Hans, Qamar, Raheel
Published 2014

Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

by Vissers, Lisenka E. L. M., Cox, Timothy C., Maga, A. Murat, Short, Kieran M., Wiradjaja, Fenny, Janssen, Irene M., Jehee, Fernanda, Bertola, Debora, Liu, Jia, Yagnik, Garima, Sekiguchi, Kiyotoshi, Kiyozumi, Daiji, van Bokhoven, Hans, Marcelis, Carlo, Cunningham, Michael L., Anderson, Peter J., Boyadjiev, Simeon A., Passos-Bueno, Maria Rita, Veltman, Joris A., Smyth, Ian, Buckley, Michael F., Roscioli, Tony
Published 2011

Validation Study of Existing Gene Expression Signatures for Anti-TNF Treatment in Patients with Rheumatoid Arthritis

by Toonen, Erik J. M., Gilissen, Christian, Franke, Barbara, Kievit, Wietske, Eijsbouts, Agnes M., den Broeder, Alfons A., van Reijmersdal, Simon V., Veltman, Joris A., Scheffer, Hans, Radstake, Timothy R. D. J., van Riel, Piet L. C. M., Barrera, Pilar, Coenen, Marieke J. H.
Published 2012

Correction: Exome Sequencing in an Admixed Isolated Population IndicatesNFXL1 Variants Confer a Risk for Specific Language Impairment

by Villanueva, Pía, Nudel, Ron, Hoischen, Alexander, Fernández, María Angélica, Simpson, Nuala H., Gilissen, Christian, Reader, Rose H., Jara, Lillian, Magdalena Echeverry, María, Francks, Clyde, Baird, Gillian, Conti-Ramsden, Gina, O’Hare, Anne, Bolton, Patrick F., Hennessy, Elizabeth R., Palomino, Hernán, Carvajal-Carmona, Luis, Veltman, Joris A., Cazier, Jean-Baptiste, Barbieri, Zulema De, Fisher, Simon E., Newbury, Dianne F.
Published 2015

Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment

by Villanueva, Pía, Nudel, Ron, Hoischen, Alexander, Fernández, María Angélica, Simpson, Nuala H., Gilissen, Christian, Reader, Rose H., Jara, Lillian, Echeverry, Maria Magdalena, Francks, Clyde, Baird, Gillian, Conti-Ramsden, Gina, O’Hare, Anne, Bolton, Patrick F., Hennessy, Elizabeth R., Palomino, Hernán, Carvajal-Carmona, Luis, Veltman, Joris A., Cazier, Jean-Baptiste, De Barbieri, Zulema, Fisher, Simon E., Newbury, Dianne F.
Published 2015

Next-generation genetic testing for retinitis pigmentosa

by Neveling, Kornelia, Collin, Rob W.J., Gilissen, Christian, van Huet, Ramon A.C., Visser, Linda, Kwint, Michael P., Gijsen, Sabine J., Zonneveld, Marijke N., Wieskamp, Nienke, de Ligt, Joep, Siemiatkowska, Anna M., Hoefsloot, Lies H., Buckley, Michael F., Kellner, Ulrich, Branham, Kari E., den Hollander, Anneke I., Hoischen, Alexander, Hoyng, Carel, Klevering, B. Jeroen, van den Born, L. Ingeborgh, Veltman, Joris A., Cremers, Frans P.M., Scheffer, Hans
Published 2012

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

by Roscioli, Tony, Kamsteeg, Erik-Jan, Buysse, Karen, Maystadt, Isabelle, van Reeuwijk, Jeroen, van den Elzen, Christa, van Beusekom, Ellen, Riemersma, Moniek, Pfundt, Rolph, Vissers, Lisenka E.L.M., Schraders, Margit, Altunoglu, Umut, Buckley, Michael F., Brunner, Han G., Grisart, Bernard, Zhou, Huiqing, Veltman, Joris A., Gilissen, Christian, Mancini, Grazia M.S., Delrée, Paul, Willemsen, Michèl A., Ramadža, Danijela Petković, Chitayat, David, Bennett, Christopher, Sheridan, Eamonn, Peeters, Els A.J., Tan-Sindhunata, Gita M.B., de Die-Smulders, Christine E., Devriendt, Koenraad, Kayserili, Hülya, El-Hashash, Osama Abd El-Fattah, Stemple, Derek L., Lefeber, Dirk J., Lin, Yung-Yao, van Bokhoven, Hans
Published 2012