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Clinical exome sequencing—Mistakes and caveats
Corominas, Jordi, Smeekens, Sanne P., Nelen, Marcel R., Yntema, Helger G., Kamsteeg, Erik‐Jan, Pfundt, Rolph, Gilissen, Christian
Published in Human mutation (01.08.2022)
Published in Human mutation (01.08.2022)
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Journal Article
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects
Seong, Eunju, Insolera, Ryan, Dulovic, Marija, Kamsteeg, Erik‐Jan, Trinh, Joanne, Brüggemann, Norbert, Sandford, Erin, Li, Sheng, Ozel, Ayse Bilge, Li, Jun Z., Jewett, Tamison, Kievit, Anneke J. A., Münchau, Alexander, Shakkottai, Vikram, Klein, Christine, Collins, Catherine A., Lohmann, Katja, Warrenburg, Bart P., Burmeister, Margit
Published in Annals of neurology (01.06.2018)
Published in Annals of neurology (01.06.2018)
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Journal Article
Detection of the ACAGG Repeat Motif in RFC1 in Two Dutch Ataxia Families
Pol, Milo, O'Gorman, Luke, Corominas‐Galbany, Jordi, Cliteur, Maaike, Derks, Ronny, Verbeek, Nienke E., Warrenburg, Bart, Kamsteeg, Erik‐Jan
Published in Movement disorders (01.08.2023)
Published in Movement disorders (01.08.2023)
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Journal Article
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
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
Published in Nature neuroscience (01.09.2016)
Published in Nature neuroscience (01.09.2016)
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Journal Article
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability
Snoeijen‐Schouwenaars, Francesca M., van Ool, Jans S., Verhoeven, Judith S., Mierlo, Petra, Braakman, Hilde M. H., Smeets, Eric E., Nicolai, Joost, Schoots, Jeroen, Teunissen, Mariel W. A., Rouhl, Rob P. W., Tan, In Y., Yntema, Helger G., Brunner, Han G., Pfundt, Rolph, Stegmann, Alexander P., Kamsteeg, Erik‐Jan, Schelhaas, Helenius J., Willemsen, Marjolein H.
Published in Epilepsia (Copenhagen) (01.01.2019)
Published in Epilepsia (Copenhagen) (01.01.2019)
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Journal Article
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology
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.
Published in Genetics in medicine (01.09.2017)
Published in Genetics in medicine (01.09.2017)
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Journal Article
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
Steel, Dora, Zech, Michael, Zhao, Chen, Barwick, Katy E. S., Burke, Derek, Demailly, Diane, Kumar, Kishore R., Zorzi, Giovanna, Nardocci, Nardo, Kaiyrzhanov, Rauan, Wagner, Matias, Iuso, Arcangela, Berutti, Riccardo, Škorvánek, Matej, Necpál, Ján, Davis, Ryan, Wiethoff, Sarah, Mankad, Kshitij, Sudhakar, Sniya, Ferrini, Arianna, Sharma, Suvasini, Kamsteeg, Erik‐Jan, Tijssen, Marina A., Verschuuren, Corien, Egmond, Martje E., Flowers, Joanna M., McEntagart, Meriel, Tucci, Arianna, Coubes, Philippe, Bustos, Bernabe I., Gonzalez‐Latapi, Paulina, Tisch, Stephen, Darveniza, Paul, Gorman, Kathleen M., Peall, Kathryn J., Bötzel, Kai, Koch, Jan C., Kmieć, Tomasz, Plecko, Barbara, Boesch, Sylvia, Haslinger, Bernhard, Jech, Robert, Garavaglia, Barbara, Wood, Nick, Houlden, Henry, Gissen, Paul, Lubbe, Steven J., Sue, Carolyn M., Cif, Laura, Mencacci, Niccolò E., Anderson, Glenn, Kurian, Manju A., Winkelmann, Juliane
Published in Annals of neurology (01.11.2020)
Published in Annals of neurology (01.11.2020)
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Journal Article
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
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.
Published in Genetics in medicine (01.06.2017)
Published in Genetics in medicine (01.06.2017)
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Journal Article
Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration
Shashi, Vandana, Magiera, Maria M, Klein, Dennis, Zaki, Maha, Schoch, Kelly, Rudnik‐Schöneborn, Sabine, Norman, Andrew, Lopes Abath Neto, Osorio, Dusl, Marina, Yuan, Xidi, Bartesaghi, Luca, De Marco, Patrizia, Alfares, Ahmed A, Marom, Ronit, Arold, Stefan T, Guzmán‐Vega, Francisco J, Pena, Loren DM, Smith, Edward C, Steinlin, Maja, Babiker, Mohamed OE, Mohassel, Payam, Foley, A Reghan, Donkervoort, Sandra, Kaur, Rupleen, Ghosh, Partha S, Stanley, Valentina, Musaev, Damir, Nava, Caroline, Mignot, Cyril, Keren, Boris, Scala, Marcello, Tassano, Elisa, Picco, Paolo, Doneda, Paola, Fiorillo, Chiara, Issa, Mahmoud Y, Alassiri, Ali, Alahmad, Ahmed, Gerard, Amanda, Liu, Pengfei, Yang, Yaping, Ertl‐Wagner, Birgit, Kranz, Peter G, Wentzensen, Ingrid M, Stucka, Rolf, Stong, Nicholas, Allen, Andrew S, Goldstein, David B, Schoser, Benedikt, Rösler, Kai M, Alfadhel, Majid, Capra, Valeria, Chrast, Roman, Strom, Tim M, Kamsteeg, Erik‐Jan, Bönnemann, Carsten G, Gleeson, Joseph G, Martini, Rudolf, Janke, Carsten, Senderek, Jan
Published in The EMBO journal (03.12.2018)
Published in The EMBO journal (03.12.2018)
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Journal Article
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation
Steyaert, Wouter, Haer-Wigman, Lonneke, Pfundt, Rolph, Hellebrekers, Debby, Steehouwer, Marloes, Hampstead, Juliet, de Boer, Elke, Stegmann, Alexander, Yntema, Helger, Kamsteeg, Erik-Jan, Brunner, Han, Hoischen, Alexander, Gilissen, Christian
Published in Nature communications (27.10.2023)
Published in Nature communications (27.10.2023)
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Journal Article
A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
Neveling, Kornelia, Feenstra, Ilse, Gilissen, Christian, Hoefsloot, Lies H., Kamsteeg, Erik-Jan, Mensenkamp, Arjen R., Rodenburg, Richard J. T., Yntema, Helger G., Spruijt, Liesbeth, Vermeer, Sascha, Rinne, Tuula, van Gassen, Koen L., Bodmer, Danielle, Lugtenberg, Dorien, de Reuver, Rick, Buijsman, Wendy, Derks, Ronny C., Wieskamp, Nienke, van den Heuvel, Bert, Ligtenberg, Marjolijn J.L., Kremer, Hannie, Koolen, David A., van de Warrenburg, Bart P.C., Cremers, Frans P.M., Marcelis, Carlo L.M., Smeitink, Jan A.M., Wortmann, Saskia B., van Zelst-Stams, Wendy A.G., Veltman, Joris A., Brunner, Han G., Scheffer, Hans, Nelen, Marcel R.
Published in Human mutation (01.12.2013)
Published in Human mutation (01.12.2013)
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Journal Article
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield
van der Sanden, Bart P.G.H., Corominas, Jordi, de Groot, Michelle, Pennings, Maartje, Meijer, Rowdy P.P., Verbeek, Nienke, van de Warrenburg, Bart, Schouten, Meyke, Yntema, Helger G., Vissers, Lisenka E. L.M., Kamsteeg, Erik-Jan, Gilissen, Christian
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
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Journal Article
A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype
Robaszkiewicz, Katarzyna, Siatkowska, Małgorzata, Wadman, Renske I., Kamsteeg, Erik-Jan, Chen, Zhiyong, Merve, Ashirwad, Parton, Matthew, Bugiardini, Enrico, de Bie, Charlotte, Moraczewska, Joanna
Published in International journal of molecular sciences (09.11.2023)
Published in International journal of molecular sciences (09.11.2023)
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Journal Article
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia
Reid, Kimberley M., Spaull, Robert, Salian, Smrithi, Barwick, Katy, Meyer, Esther, Zhen, Juan, Hirata, Hiromi, Sheipouri, Diba, Benkerroum, Hind, Gorman, Kathleen M., Papandreou, Apostolos, Simpson, Michael A., Hirano, Yoshinobu, Farabella, Irene, Topf, Maya, Grozeva, Detelina, Carss, Keren, Smith, Martin, Pall, Hardev, Lunt, Peter, De Gressi, Susanna, Kamsteeg, Erik‐Jan, Haack, Tobias B., Carr, Lucinda, Guerreiro, Rita, Bras, Jose, Maher, Eamonn R., Scott, Richard H., Vandenberg, Robert J., Raymond, F. Lucy, Chong, Wui K., Sudhakar, Sniya, Mankad, Kshitij, Reith, Maarten E., Campeau, Philippe M., Harvey, Robert J., Kurian, Manju A.
Published in Movement disorders (01.10.2022)
Published in Movement disorders (01.10.2022)
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Journal Article
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders
van de Warrenburg, Bart P, Schouten, Meyke I, de Bot, Susanne T, Vermeer, Sascha, Meijer, Rowdy, Pennings, Maartje, Gilissen, Christian, Willemsen, Michèl AAP, Scheffer, Hans, Kamsteeg, Erik-Jan
Published in European journal of human genetics : EJHG (01.10.2016)
Published in European journal of human genetics : EJHG (01.10.2016)
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Journal Article
A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder
Prooije, Teije H., Pennings, Maartje, Dorresteijn, Lucille, Gardeitchik, Thatjana, Odekerken, Vincent J.J., Oosterloo, Mayke, Pedersen, Annie, Verschuuren‐Bemelmans, Corien C., Vrancken, Alexander, Kamsteeg, Erik‐Jan, Warrenburg, Bart P.C.
Published in Movement disorders (01.09.2024)
Published in Movement disorders (01.09.2024)
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Journal Article
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant
Chatron, Nicolas, Møller, Rikke S., Champaigne, Neena L., Schneider, Amy L., Kuechler, Alma, Labalme, Audrey, Simonet, Thomas, Baggett, Lauren, Bardel, Claire, Kamsteeg, Erik‐Jan, Pfundt, Rolph, Romano, Corrado, Aronsson, Johan, Alberti, Antonino, Vinci, Mirella, Miranda, Maria J., Lacroix, Amy, Marjanovic, Dragan, des Portes, Vincent, Edery, Patrick, Wieczorek, Dagmar, Gardella, Elena, Scheffer, Ingrid E., Mefford, Heather, Sanlaville, Damien, Carvill, Gemma L., Lesca, Gaetan
Published in Annals of neurology (01.05.2018)
Published in Annals of neurology (01.05.2018)
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Journal Article