Feasibility of predicting allele specific expression from DNA sequencing using machine learning

por Zhang, Zhenhua, van Dijk, Freerk, de Klein, Niek, van Gijn, Mariëlle E, Franke, Lude H, Sinke, Richard J, Swertz, Morris A, van der Velde, K Joeri
Publicado 2021

Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases

por Plantinga, Mirjam, Birnie, Erwin, Abbott, Kristin M, Sinke, Richard J, Lucassen, Anneke M, Schuurmans, Juliette, Kaplan, Seyma, Verkerk, Marian A, Ranchor, Adelita V, van Langen, Irene M
Publicado 2016

Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa

por Bremer, Jeroen, van der Heijden, Elisabeth H., Eichhorn, Daryll S., Meijer, Rowdy, Lemmink, Henny H., Scheffer, Hans, Sinke, Richard J., Jonkman, Marcel F., Pasmooij, Anna M.G., Van den Akker, Peter C.
Publicado 2019

Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner

por Duarri, Anna, Lin, Meng-Chin A., Fokkens, Michiel R., Meijer, Michel, Smeets, Cleo J. L. M., Nibbeling, Esther A. R., Boddeke, Erik, Sinke, Richard J., Kampinga, Harm H., Papazian, Diane M., Verbeek, Dineke S.
Publicado 2015

Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases

por Duarri, Anna, Nibbeling, Esther A. R., Fokkens, Michiel R., Meijer, Michel, Boerrigter, Melissa, Verschuuren-Bemelmans, Corien C., Kremer, Berry P. H., van de Warrenburg, Bart P., Dooijes, Dennis, Boddeke, Erik, Sinke, Richard J., Verbeek, Dineke S.
Publicado 2015

Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead

por Veldman, Abigail, Kiewiet, Mensiena B. G., Heiner-Fokkema, Margaretha Rebecca, Nelen, Marcel R., Sinke, Richard J., Sikkema-Raddatz, Birgit, Voorhoeve, Els, Westra, Dineke, Dollé, Martijn E. T., Schielen, Peter C. J. I., van Spronsen, Francjan J.
Publicado 2022

Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels

por Deelen, Patrick, Zhernakova, Daria V, de Haan, Mark, van der Sijde, Marijke, Bonder, Marc Jan, Karjalainen, Juha, van der Velde, K Joeri, Abbott, Kristin M, Fu, Jingyuan, Wijmenga, Cisca, Sinke, Richard J, Swertz, Morris A, Franke, Lude
Publicado 2015

NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results

por Sikkema-Raddatz, Birgit, Johansson, Lennart F., de Boer, Eddy N., Boon, Elles M. J., Suijkerbuijk, Ron F., Bouman, Katelijne, Bilardo, Catia M., Swertz, Morris A., Dijkstra, Martijn, van Langen, Irene M., Sinke, Richard J., te Meerman, Gerard J.
Publicado 2016

GAVIN: Gene-Aware Variant INterpretation for medical sequencing

por van der Velde, K. Joeri, de Boer, Eddy N., van Diemen, Cleo C., Sikkema-Raddatz, Birgit, Abbott, Kristin M., Knopperts, Alain, Franke, Lude, Sijmons, Rolf H., de Koning, Tom J., Wijmenga, Cisca, Sinke, Richard J., Swertz, Morris A.
Publicado 2017

Naturally Occurring Variants in LRP1 (Low-Density Lipoprotein Receptor–Related Protein 1) Affect HDL (High-Density Lipoprotein) Metabolism Through ABCA1 (ATP-Binding Cassette A1) a...

por Oldoni, Federico, van Capelleveen, Julian C., Dalila, Nawar, Wolters, Justina C., Heeren, Joerg, Sinke, Richard J., Hui, David Y., Dallinga-Thie, Geesje M., Frikke-Schmidt, Ruth, Hovingh, Kees G., van de Sluis, Bart, Tybjærg-Hansen, Anne, Kuivenhoven, Jan Albert
Publicado 2018

Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp?

por Huang, Miaozhen, Nibbeling, Esther A. R., Lagrand, Tjerk J., Souza, Ivana A., Groen, Justus L., Gandini, Maria A., Zhang, Fang-Xiong, Koelman, Johannes H. T. M., Adir, Noam, Sinke, Richard J., Zamponi, Gerald W., Tijssen, Marina A. J., Verbeek, Dineke S.
Publicado 2021

CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

por Li, Shuang, van der Velde, K. Joeri, de Ridder, Dick, van Dijk, Aalt D. J., Soudis, Dimitrios, Zwerwer, Leslie R., Deelen, Patrick, Hendriksen, Dennis, Charbon, Bart, van Gijn, Marielle E., Abbott, Kristin, Sikkema-Raddatz, Birgit, van Diemen, Cleo C., Kerstjens-Frederikse, Wilhelmina S., Sinke, Richard J., Swertz, Morris A.
Publicado 2020

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

por Rump, Patrick, Jazayeri, Omid, van Dijk-Bos, Krista K., Johansson, Lennart F., van Essen, Anthonie J., Verheij, Johanna B. G. M., Veenstra-Knol, Hermine E., Redeker, Egbert J. W., Mannens, Marcel M. A. M., Swertz, Morris A., Alizadeh, Behrooz Z., van Ravenswaaij-Arts, Conny M. A., Sinke, Richard J., Sikkema-Raddatz, Birgit
Publicado 2016

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

por Miyake, Noriko, Wolf, Nicole I., Cayami, Ferdy K., Crawford, Joanna, Bley, Annette, Bulas, Dorothy, Conant, Alex, Bent, Stephen J., Gripp, Karen W., Hahn, Andreas, Humphray, Sean, Kimura-Ohba, Shihoko, Kingsbury, Zoya, Lajoie, Bryan R., Lal, Dennis, Micha, Dimitra, Pizzino, Amy, Sinke, Richard J., Sival, Deborah, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Ulrick, Nicole, Taft, Ryan J., Ogata, Tsutomu, Ozono, Keiichi, Matsumoto, Naomichi, Neubauer, Bernd A., Simons, Cas, Vanderver, Adeline
Publicado 2017

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

por Hoorntje, Edgar T., Posafalvi, Anna, Syrris, Petros, van der Velde, K. Joeri, Bolling, Marieke C., Protonotarios, Alexandros, Boven, Ludolf G., Amat-Codina, Nuria, Groeneweg, Judith A., Wilde, Arthur A., Sobreira, Nara, Calkins, Hugh, Hauer, Richard N. W., Jonkman, Marcel F., McKenna, William J., Elliott, Perry M., Sinke, Richard J., van den Berg, Maarten P., Chelko, Stephen P., James, Cynthia A., van Tintelen, J. Peter, Judge, Daniel P., Jongbloed, Jan D. H.
Publicado 2018

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

por Olde Keizer, Richelle A. C. M., Marouane, Abderrahim, Kerstjens-Frederikse, Wilhelmina S., Deden, A. Chantal, Lichtenbelt, Klaske D., Jonckers, Tinneke, Vervoorn, Marieke, Vreeburg, Maaike, Henneman, Lidewij, de Vries, Linda S., Sinke, Richard J., Pfundt, Rolph, Stevens, Servi J. C., Andriessen, Peter, van Lingen, Richard A., Nelen, Marcel, Scheffer, Hans, Stemkens, Daphne, Oosterwijk, Cor, van Amstel, Hans Kristian Ploos, de Boode, Willem P., van Zelst-Stams, Wendy A. G., Frederix, Geert W. J., Vissers, Lisenka E. L. M.
Publicado 2023

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

por Fokkema, Ivo F. A. C., van der Velde, Kasper J., Slofstra, Mariska K., Ruivenkamp, Claudia A. L., Vogel, Maartje J., Pfundt, Rolph, Blok, Marinus J., Lekanne Deprez, Ronald H., Waisfisz, Quinten, Abbott, Kristin M., Sinke, Richard J., Rahman, Rubayte, Nijman, Isaäc J., de Koning, Bart, Thijs, Gert, Wieskamp, Nienke, Moritz, Ruben J. G., Charbon, Bart, Saris, Jasper J., den Dunnen, Johan T., Laros, Jeroen F. J., Swertz, Morris A., van Gijn, Marielle E.
Publicado 2019