Search Results - Vissers, Lisenka E.L.M.

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

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Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes by 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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Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation by 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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1 in 38 individuals at risk of a dominant medically actionable disease by Haer-Wigman, Lonneke, van der Schoot, Vyne, Feenstra, Ilse, Vulto-van Silfhout, Anneke T., Gilissen, Christian, Brunner, Han G., Vissers, Lisenka E. L. M., Yntema, Helger G.

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Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA by Doornbos, Cenna, van Beek, Ronald, Bongers, Ernie M. H. F., Lugtenberg, Dorien, Klaren, Peter. H. M., Vissers, Lisenka E. L. M., Roepman, Ronald, Oud, Machteld M.

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Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome by Dingemans, Alexander J. M., Stremmelaar, Diante E., van der Donk, Roos, Vissers, Lisenka E. L. M., Koolen, David A., Rump, Patrick, Hehir-Kwa, Jayne Y., de Vries, Bert B. A.

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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

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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.

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Long-read trio sequencing of individuals with unsolved intellectual disability by 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

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

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Characterization of the GABRB2 associated neurodevelopmental disorders by el Achkar, Christelle Moufawad, Harrer, Merle, Smith, Lacey, Kelly, McKenna, Iqbal, Sumaiya, Maljevic, Snezana, Niturad, Cristina Elena, Vissers, Lisenka E.L.M., Poduri, Annapurna, Yang, Edward, Lal, Dennis, Lerche, Holger, Møller, Rikke S., Olson, Heather E.

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Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans by Feenstra, Ilse, Vissers, Lisenka E.L.M., Pennings, Ronald J.E., Nillessen, Willy, Pfundt, Rolph, Kunst, Henricus P., Admiraal, Ronald J., Veltman, Joris A., van Ravenswaaij-Arts, Conny M.A., Brunner, Han G., Cremers, Cor W.R.J.

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Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis by de Boer, Elke, Ockeloen, Charlotte W., Matalonga, Leslie, Horvath, Rita, Rodenburg, Richard J., Coenen, Marieke J. H., Janssen, Mirian, Henssen, Dylan, Gilissen, Christian, Steyaert, Wouter, Paramonov, Ida, Trimouille, Aurélien, Kleefstra, Tjitske, Verloes, Alain, Vissers, Lisenka E. L. M.

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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis by de Boer, Elke, Ockeloen, Charlotte W., Matalonga, Leslie, Horvath, Rita, Rodenburg, Richard J., Coenen, Marieke J. H., Janssen, Mirian, Henssen, Dylan, Gilissen, Christian, Steyaert, Wouter, Paramonov, Ida, Trimouille, Aurélien, Kleefstra, Tjitske, Verloes, Alain, Vissers, Lisenka E. L. M.

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Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders by van der Werf, Ilse M., Jansen, Sandra, de Vries, Petra F., Gerstmans, Amber, van de Vorst, Maartje, Van Dijck, Anke, de Vries, Bert B. A., Gilissen, Christian, Hoischen, Alexander, Vissers, Lisenka E. L. M., Kooy, R. Frank, Vandeweyer, Geert

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Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals by van der Schoot, Vyne, Haer-Wigman, Lonneke, Feenstra, Ilse, Tammer, Femke, Oerlemans, Anke J. M., van Koolwijk, Martine P. A., van Agt, Frans, Arens, Yvonne H. J. M., Brunner, Han G., Vissers, Lisenka E. L. M., Yntema, Helger G.

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A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype by Iqbal, Zafar, Shahzad, Mohsin, Vissers, Lisenka E L M, van Scherpenzeel, Monique, Gilissen, Christian, Razzaq, Attia, Zahoor, Muhammad Yasir, Khan, Shaheen N, Kleefstra, Tjitske, Veltman, Joris A, de Brouwer, Arjan P M, Lefeber, Dirk J, van Bokhoven, Hans, Riazuddin, Sheikh

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Long-read technologies identify a hidden inverted duplication in a family with choroideremia by Fadaie, Zeinab, Neveling, Kornelia, Mantere, Tuomo, Derks, Ronny, Haer-Wigman, Lonneke, den Ouden, Amber, Kwint, Michael, O’Gorman, Luke, Valkenburg, Dyon, Hoyng, Carel B., Gilissen, Christian, Vissers, Lisenka E.L.M., Nelen, Marcel, Cremers, Frans P.M., Hoischen, Alexander, Roosing, Susanne

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Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP by Vissers, Lisenka E.L.M., Lausch, Ekkehart, Unger, Sheila, Campos-Xavier, Ana Belinda, Gilissen, Christian, Rossi, Antonio, Del Rosario, Marisol, Venselaar, Hanka, Knoll, Ute, Nampoothiri, Sheela, Nair, Mohandas, Spranger, Jürgen, Brunner, Han G., Bonafé, Luisa, Veltman, Joris A., Zabel, Bernhard, Superti-Furga, Andrea

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Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing by Itsara, Andy, Vissers, Lisenka E.L.M., Steinberg, Karyn Meltz, Meyer, Kevin J., Zody, Michael C., Koolen, David A., de Ligt, Joep, Cuppen, Edwin, Baker, Carl, Lee, Choli, Graves, Tina A., Wilson, Richard K., Jenkins, Robert B., Veltman, Joris A., Eichler, Evan E.

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