Search Results - "Vissers, L E L M"

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis by Vissers, Lisenka E L M, de Vries, Bert B A, Veltman, Joris A

“…Structural chromosomal rearrangements can lead to a wide variety of serious clinical manifestations, including mental retardation (MR) and congenital…”
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The Genetics of Intellectual Disability by Jansen, Sandra, Vissers, Lisenka E L M, de Vries, Bert B A

“…Intellectual disability (ID) has a prevalence of ~2-3% in the general population, having a large societal impact. The underlying cause of ID is largely of…”
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Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine by Wevers, R. A., Christensen, M., Engelke, U. F. H., Geuer, S., Coene, K. L. M., Kwast, J. T., Lund, A. M., Vissers, L. E. L. M.

“…Genetic defects in the pyrimidine nucleoside transporters of the CNT transporter family have not yet been reported. Metabolic investigations in a patient with…”
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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

“…Skeletal ciliopathies are a group of disorders caused by dysfunction of the cilium, a small signaling organelle present on nearly every vertebrate cell. This…”
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Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications by 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

“…Abstract Background Approximately two third of patients with a rare genetic disease remain undiagnosed after exome sequencing (ES). As part of our post-test…”
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Comprehensive de novo mutation discovery with HiFi long-read sequencing by 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

“…Long-read sequencing (LRS) techniques have been very successful in identifying structural variants (SVs). However, the high error rate of LRS made the…”
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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism by de Vries, Bert B A, Koolen, David A, Vissers, Lisenka E L M, Pfundt, Rolph, de Leeuw, Nicole, Knight, Samantha JL, Regan, Regina, Kooy, R Frank, Reyniers, Edwin, Romano, Corrado, Fichera, Marco, Schinzel, Albert, Baumer, Alessandra, Anderlid, Britt-Marie, Schoumans, Jacqueline, Knoers, Nine V, van Kessel, Ad Geurts, Sistermans, Erik A, Veltman, Joris A, Brunner, Han G

“…Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three…”
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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

“…Intellectual disability (ID) is a major health problem mostly with an unknown etiology. Recently exome sequencing of individuals with ID identified novel genes…”
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Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects by Haer-Wigman, Lonneke, den Ouden, Amber, Derks, Ronny, van Genderen, Maria M., Lugtenberg, Dorien, Verheij, Joke, Vijzelaar, Raymon, Yntema, Helger G., Vissers, Lisenka E. L. M., Neveling, Kornelia

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Parent-of-origin-specific signatures of de novo mutations by 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

“…Christian Gilissen, John Niederhuber and colleagues examine de novo mutations with parent-of-origin information from whole-genome sequencing datasets from 816…”
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Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing by van Nimwegen, Kirsten J M, van Soest, Ronald A, Veltman, Joris A, Nelen, Marcel R, van der Wilt, Gert Jan, Vissers, Lisenka E L M, Grutters, Janneke P C

“…The substantial technological advancements in next-generation sequencing (NGS), combined with dropping costs, have allowed for a swift diffusion of NGS…”
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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

“…Clinical genomic sequencing can identify pathogenic variants unrelated to the initial clinical question, but of medical relevance to the patients and their…”
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Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders by Iqbal, Z., Vandeweyer, G., van der Voet, M., Waryah, A. M., Zahoor, M. Y., Besseling, J. A., Roca, L. T., Vulto-van Silfhout, A. T., Nijhof, B., Kramer, J. M., Van der Aa, N., Ansar, M., Peeters, H., Helsmoortel, C., Gilissen, C., Vissers, L. E. L. M., Veltman, J. A., de Brouwer, A. P. M., Frank Kooy, R., Riazuddin, S., Schenck, A., van Bokhoven, H., Rooms, L.

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Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies by VISSERS, L. E. L. M, STANKIEWICZ, P, BI, W, GEURTS VAN KESSEL, A, LUPSKI, J. R, VELTMAN, J. A, YATSENKO, S. A, CRAWFORD, E, CRESWICK, H, PROUD, V. K, DE VRIES, B. B. A, PFUNDT, R, MARCELIS, C. L. M, ZACKOWSKI, J

“…Recent molecular cytogenetic data have shown that the constitution of complex chromosome rearrangements (CCRs) may be more complicated than previously thought…”
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability by de Ligt, Joep, Willemsen, Marjolein H, van Bon, Bregje W.M, Kleefstra, Tjitske, Yntema, Helger G, Kroes, Thessa, Vulto-van Silfhout, Anneke T, Koolen, David A, de Vries, Petra, Gilissen, Christian, del Rosario, Marisol, Hoischen, Alexander, Scheffer, Hans, de Vries, Bert B.A, Brunner, Han G, Veltman, Joris A, Vissers, Lisenka E.L.M

“…In this study, exome sequencing yielded a genetic diagnosis in 16% of patients who had previously been evaluated to rule out known causes of intellectual…”
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Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging by Deden, Chantal, Neveling, Kornelia, Zafeiropopoulou, Dimitra, Gilissen, Christian, Pfundt, Rolph, Rinne, Tuula, Leeuw, Nicole, Faas, Brigitte, Gardeitchik, Thatjana, Sallevelt, Suzanne C. E. H., Paulussen, Aimee, Stevens, Servi J. C., Sikkel, Esther, Elting, Mariet W., Maarle, Merel C., Diderich, Karin E. M., Corsten‐Janssen, Nicole, Lichtenbelt, Klaske D., Lachmeijer, Guus, Vissers, Lisenka E. L. M., Yntema, Helger G., Nelen, Marcel, Feenstra, Ilse, Zelst‐Stams, Wendy A. G.

“…Objective The purpose of this study was to explore the diagnostic yield and clinical utility of trio‐based rapid whole exome sequencing (rWES) in pregnancies…”
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Identification of rare de novo epigenetic variations in congenital disorders by 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.

“…Certain human traits such as neurodevelopmental disorders (NDs) and congenital anomalies (CAs) are believed to be primarily genetic in origin. However, even…”
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Characterization of the GABRB2‐Associated Neurodevelopmental Disorders by Achkar, Christelle M., Harrer, Merle, Smith, Lacey, Kelly, McKenna, Iqbal, Sumaiya, Maljevic, Snezana, Niturad, Cristina E., Vissers, Lisenka E. L. M., Poduri, Annapurna, Yang, Edward, Lal, Dennis, Lerche, Holger, Møller, Rikke S., Olson, Heather E.

“…Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in the gene GABRB2, coding for the…”
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Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function by Willemsen, Marjolein H, Ba, Wei, Wissink-Lindhout, Willemijn M, de Brouwer, Arjan P M, Haas, Stefan A, Bienek, Melanie, Hu, Hao, Vissers, Lisenka E L M, van Bokhoven, Hans, Kalscheuer, Vera, Nadif Kasri, Nael, Kleefstra, Tjitske

“…Kinesin superfamily (KIF) genes encode motor proteins that have fundamental roles in brain functioning, development, survival and plasticity by regulating the…”
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How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques by Wortmann, Saskia B., Oud, Machteld M., Alders, Mariëlle, Coene, Karlien L. M., Crabben, Saskia N., Feichtinger, René G., Garanto, Alejandro, Hoischen, Alex, Langeveld, Mirjam, Lefeber, Dirk, Mayr, Johannes A., Ockeloen, Charlotte W., Prokisch, Holger, Rodenburg, Richard, Waterham, Hans R., Wevers, Ron A., Warrenburg, Bart P. C., Willemsen, Michel A. A. P., Wolf, Nicole I., Vissers, Lisenka E. L. M., Karnebeek, Clara D. M.

“…Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has created tremendous improvement in achieving an accurate and timely…”
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