The Genetics of Intellectual Disability

por Jansen, Sandra, Vissers, Lisenka E. L. M., de Vries, Bert B. A.
Publicado 2023

A systematic review and standardized clinical validity assessment of male infertility genes

por Oud, Manon S, Volozonoka, Ludmila, Smits, Roos M, Vissers, Lisenka E L M, Ramos, Liliana, Veltman, Joris A
Publicado 2019

Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA

por 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.
Publicado 2021

Exome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability

por 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
Publicado 2014

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

por 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.
Publicado 2014

Long-read trio sequencing of individuals with unsolved intellectual disability

por 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
Publicado 2020

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

por 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.
Publicado 2021

A complex structural variant near SOX3 causes X-linked split-hand/foot malformation

por de Boer, Elke, Marcelis, Carlo, Neveling, Kornelia, van Beusekom, Ellen, Hoischen, Alexander, Klein, Willemijn M., de Leeuw, Nicole, Mantere, Tuomo, Melo, Uirá S., van Reeuwijk, Jeroen, Smeets, Dominique, Spielmann, Malte, Kleefstra, Tjitske, van Bokhoven, Hans, Vissers, Lisenka E.L.M.
Publicado 2023

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals

por 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.
Publicado 2021

Comprehensive de novo mutation discovery with HiFi long-read sequencing

por Kucuk, Erdi, van der Sanden, Bart P. G. H., O’Gorman, Luke, Kwint, Michael, Derks, Ronny, Wenger, Aaron M., Lambert, Christine, Chakraborty, Shreyasee, Baybayan, Primo, Rowell, William J., Brunner, Han G., Vissers, Lisenka E. L. M., Hoischen, Alexander, Gilissen, Christian
Publicado 2023

Long-read technologies identify a hidden inverted duplication in a family with choroideremia

por 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
Publicado 2021

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

por van der Donk, Roos, Jansen, Sandra, Schuurs-Hoeijmakers, Janneke H. M., Koolen, David A., Goltstein, Lia C. M. J., Hoischen, Alexander, Brunner, Han G., Kemmeren, Patrick, Nellåker, Christoffer, Vissers, Lisenka E. L. M., de Vries, Bert B. A., Hehir-Kwa, Jayne Y.
Publicado 2018

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA

por Haer-Wigman, Lonneke, den Ouden, Amber, van Genderen, Maria M., Kroes, Hester Y., Verheij, Joke, Smailhodzic, Dzenita, Hoekstra, Attje S., Vijzelaar, Raymon, Blom, Jan, Derks, Ronny, Tjon-Pon-Fong, Menno, Yntema, Helger G., Nelen, Marcel R., Vissers, Lisenka E.L.M., Lugtenberg, Dorien, Neveling, Kornelia
Publicado 2022

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

por 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.
Publicado 2017

Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information

por Dingemans, Alexander J. M., Stremmelaar, Diante E., Vissers, Lisenka E. L. M., Jansen, Sandra, Nabais Sá, Maria J., van Remortele, Angela, Jonis, Noraly, Truijen, Kim, van de Ven, Sam, Ewals, Jeroen, Verbruggen, Michel, Koolen, David A., Brunner, Han G., Eichler, Evan E., Gecz, Jozef, de Vries, Bert B. A.
Publicado 2021

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

por Matalonga, Leslie, Hernández-Ferrer, Carles, Piscia, Davide, Schüle, Rebecca, Synofzik, Matthis, Töpf, Ana, Vissers, Lisenka E. L. M., de Voer, Richarda, Tonda, Raul, Laurie, Steven, Fernandez-Callejo, Marcos, Picó, Daniel, Garcia-Linares, Carles, Papakonstantinou, Anastasios, Corvó, Alberto, Joshi, Ricky, Diez, Hector, Gut, Ivo, Hoischen, Alexander, Graessner, Holm, Beltran, Sergi
Publicado 2021

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

por Schobers, Gaby, Schieving, Jolanda H., Yntema, Helger G., Pennings, Maartje, Pfundt, Rolph, Derks, Ronny, Hofste, Tom, de Wijs, Ilse, Wieskamp, Nienke, van den Heuvel, Simone, Galbany, Jordi Corominas, Gilissen, Christian, Nelen, Marcel, Brunner, Han G., Kleefstra, Tjitske, Kamsteeg, Erik-Jan, Willemsen, Michèl A. A. P., Vissers, Lisenka E. L. M.
Publicado 2022

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

por 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
Publicado 2011

Identification of rare de novo epigenetic variations in congenital disorders

por Barbosa, Mafalda, Joshi, Ricky S., Garg, Paras, Martin-Trujillo, Alejandro, Patel, Nihir, Jadhav, Bharati, Watson, Corey T., Gibson, William, Chetnik, Kelsey, Tessereau, Chloe, Mei, Hui, De Rubeis, Silvia, Reichert, Jennifer, Lopes, Fatima, Vissers, Lisenka E. L. M., Kleefstra, Tjitske, Grice, Dorothy E., Edelmann, Lisa, Soares, Gabriela, Maciel, Patricia, Brunner, Han G., Buxbaum, Joseph D., Gelb, Bruce D., Sharp, Andrew J.
Publicado 2018

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

por Pfundt, Rolph, del Rosario, Marisol, Vissers, Lisenka E.L.M., Kwint, Michael P., Janssen, Irene M., de Leeuw, Nicole, Yntema, Helger G., Nelen, Marcel R., Lugtenberg, Dorien, Kamsteeg, Erik-Jan, Wieskamp, Nienke, Stegmann, Alexander P.A., Stevens, Servi J.C., Rodenburg, Richard J.T., Simons, Annet, Mensenkamp, Arjen R., Rinne, Tuula, Gilissen, Christian, Scheffer, Hans, Veltman, Joris A., Hehir-Kwa, Jayne Y.
Publicado 2017