New insights into the generation and role of de novo mutations in health and disease von Acuna-Hidalgo, Rocio, Veltman, Joris A, Hoischen, Alexander

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MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains von Wiel, Laurens, Baakman, Coos, Gilissen, Daan, Veltman, Joris A., Vriend, Gerrit, Gilissen, Christian

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De novo mutations in human genetic disease von Veltman, Joris A., Brunner, Han G.

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Why geneticists should care about male infertility von Veltman, Joris A., Tüttelmann, Frank

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Unlocking Mendelian disease using exome sequencing von Gilissen, Christian, Hoischen, Alexander, Brunner, Han G, Veltman, Joris A

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Genetic studies in intellectual disability and related disorders von Vissers, Lisenka E. L. M., Gilissen, Christian, Veltman, Joris A.

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The role of de novo mutations in adult-onset neurodegenerative disorders von Nicolas, Gaël, Veltman, Joris A.

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Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation von Acuna-Hidalgo, Rocio, Bo, Tan, Kwint, Michael P., van de Vorst, Maartje, Pinelli, Michele, Veltman, Joris A., Hoischen, Alexander, Vissers, Lisenka E.L.M., Gilissen, Christian

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Disease gene identification strategies for exome sequencing von GILISSEN, Christian, HOISCHEN, Alexander, BRUNNER, Han G, VELTMAN, Joris A

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Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility von Liu, Chunyu, Tu, Chaofeng, Wang, Lingbo, Wu, Huan, Houston, Brendan J., Mastrorosa, Francesco K., Zhang, Wen, Shen, Ying, Wang, Jiaxiong, Tian, Shixiong, Meng, Lanlan, Cong, Jiangshan, Yang, Shenmin, Jiang, Yiwen, Tang, Shuyan, Zeng, Yuyan, Lv, Mingrong, Lin, Ge, Li, Jinsong, Saiyin, Hexige, He, Xiaojin, Jin, Li, Touré, Aminata, Ray, Pierre F., Veltman, Joris A., Shi, Qinghua, O’Bryan, Moira K., Cao, Yunxia, Tan, Yue-Qiu, Zhang, Feng

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Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions von Lelieveld, Stefan H., Spielmann, Malte, Mundlos, Stefan, Veltman, Joris A., Gilissen, Christian

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A systematic review and standardized clinical validity assessment of male infertility genes von Oud, Manon S, Volozonoka, Ludmila, Smits, Roos M, Vissers, Lisenka E L M, Ramos, Liliana, Veltman, Joris A

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Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta von Becker, Jutta, Semler, Oliver, Gilissen, Christian, Li, Yun, Bolz, Hanno Jörn, Giunta, Cecilia, Bergmann, Carsten, Rohrbach, Marianne, Koerber, Friederike, Zimmermann, Katharina, de Vries, Petra, Wirth, Brunhilde, Schoenau, Eckhard, Wollnik, Bernd, Veltman, Joris A., Hoischen, Alexander, Netzer, Christian

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Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life von Acuna-Hidalgo, Rocio, Sengul, Hilal, Steehouwer, Marloes, van de Vorst, Maartje, Vermeulen, Sita H., Kiemeney, Lambertus A.L.M., Veltman, Joris A., Gilissen, Christian, Hoischen, Alexander

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Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability von Lelieveld, Stefan H, Reijnders, Margot R F, Pfundt, Rolph, Yntema, Helger G, Kamsteeg, Erik-Jan, de Vries, Petra, de Vries, Bert B A, Willemsen, Marjolein H, Kleefstra, Tjitske, Löhner, Katharina, Vreeburg, Maaike, Stevens, Servi J C, van der Burgt, Ineke, Bongers, Ernie M H F, Stegmann, Alexander P A, Rump, Patrick, Rinne, Tuula, Nelen, Marcel R, Veltman, Joris A, Vissers, Lisenka E L M, Brunner, Han G, Gilissen, Christian

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Parent-of-origin-specific signatures of de novo mutations von Goldmann, Jakob M, Wong, Wendy S W, Pinelli, Michele, Farrah, Terry, Bodian, Dale, Stittrich, Anna B, Glusman, Gustavo, Vissers, Lisenka E L M, Hoischen, Alexander, Roach, Jared C, Vockley, Joseph G, Veltman, Joris A, Solomon, Benjamin D, Gilissen, Christian, Niederhuber, John E

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A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene–disease relationships von Houston, Brendan J, Riera-Escamilla, Antoni, Wyrwoll, Margot J, Salas-Huetos, Albert, Xavier, Miguel J, Nagirnaja, Liina, Friedrich, Corinna, Conrad, Don F, Aston, Kenneth I, Krausz, Csilla, Tüttelmann, Frank, O’Bryan, Moira K, Veltman, Joris A, Oud, Manon S

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A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology von Vissers, Lisenka E.L.M., van Nimwegen, Kirsten J.M., Schieving, Jolanda H., Kamsteeg, Erik-Jan, Kleefstra, Tjitske, Yntema, Helger G., Pfundt, Rolph, van der Wilt, Gert Jan, Krabbenborg, Lotte, Brunner, Han G., van der Burg, Simone, Grutters, Janneke, Veltman, Joris A., Willemsen, Michèl A.A.P.

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Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes von Lelieveld, Stefan H., Wiel, Laurens, Venselaar, Hanka, Pfundt, Rolph, Vriend, Gerrit, Veltman, Joris A., Brunner, Han G., Vissers, Lisenka E.L.M., Gilissen, Christian

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COX-2 inhibition improves immunotherapy and is associated with decreased numbers of myeloid-derived suppressor cells in mesothelioma. Celecoxib influences MDSC function von Veltman, Joris D, Lambers, Margaretha E H, van Nimwegen, Menno, Hendriks, Rudi W, Hoogsteden, Henk C, Aerts, Joachim G J V, Hegmans, Joost P J J

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