Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia

per Hoogendoorn, Mechteld L.C., Vorstman, Jacob A.S., Jalali, Gholam R., Selten, Jean-Paul, Sinke, Richard J., Emanuel, Beverly S., Kahn, René S.
Publicat 2007

Association of the PIK4CA Schizophrenia-Susceptibility Gene in Adults With the 22q11.2 Deletion Syndrome

per Vorstman, Jacob A.S., Chow, Eva W., Ophoff, Roel A., van Engeland, Herman, Beemer, Frits A., Kahn, René S., Sinke, Richard J., Bassett, Anne S.
Publicat 2009

Clinical utility gene card for: Dilated Cardiomyopathy (CMD)

per Posafalvi, Anna, Herkert, Johanna C, Sinke, Richard J, van den Berg, Maarten P, Mogensen, Jens, Jongbloed, Jan D H, van Tintelen, J Peter
Publicat 2013

Using the shared genetics of dystonia and ataxia to unravel their pathogenesis

per Nibbeling, Esther A.R., Delnooz, Cathérine C.S., de Koning, Tom J., Sinke, Richard J., Jinnah, Hyder A., Tijssen, Marina A.J., Verbeek, Dineke S.
Publicat a Neurosci Biobehav Rev (2017)

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

per 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
Publicat a Sci Rep (2021)

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

per 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
Publicat a Eur J Hum Genet (2016)

RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling

per Widowati, Titis, Melhem, Shamiram, Patria, Suryono Y, de Graaf, Bianca M, Sinke, Richard J, Viel, Martijn, Dijkhuis, Jos, Sadewa, Ahmad H, Purwohardjono, Rochadi, Soenarto, Yati, Hofstra, Robert MW, Sribudiani, Yunia
Publicat a Eur J Hum Genet (2016)

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

per 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.
Publicat a Mol Ther Nucleic Acids (2019)

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

per 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.
Publicat a Cell Mol Life Sci (2015)

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

per 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.
Publicat a PLoS One (2015)

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

per 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
Publicat a Genome Med (2015)

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

per 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.
Publicat a Sci Rep (2016)

GAVIN: Gene-Aware Variant INterpretation for medical sequencing

per 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.
Publicat a Genome Biol (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...

per 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
Publicat a Arterioscler Thromb Vasc Biol (2018)

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

per 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.
Publicat a Mol Brain (2021)

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

per Hanemaaijer, Nicolien M, Sikkema-Raddatz, Birgit, van der Vries, Gerben, Dijkhuizen, Trijnie, Hordijk, Roel, van Essen, Anthonie J, Veenstra-Knol, Hermine E, Kerstjens-Frederikse, Wilhelmina S, Herkert, Johanna C, Gerkes, Erica H, Leegte, Lamberta K, Kok, Klaas, Sinke, Richard J, van Ravenswaaij-Arts, Conny M A
Publicat 2012

Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23

per Bakalkin, Georgy, Watanabe, Hiroyuki, Jezierska, Justyna, Depoorter, Cloë, Verschuuren-Bemelmans, Corien, Bazov, Igor, Artemenko, Konstantin A., Yakovleva, Tatjana, Dooijes, Dennis, Van de Warrenburg, Bart P.C., Zubarev, Roman A., Kremer, Berry, Knapp, Pamela E., Hauser, Kurt F., Wijmenga, Cisca, Nyberg, Fred, Sinke, Richard J., Verbeek, Dineke S.
Publicat 2010

Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23

per Bakalkin, Georgy, Watanabe, Hiroyuki, Jezierska, Justyna, Depoorter, Cloë, Verschuuren-Bemelmans, Corien, Bazov, Igor, Artemenko, Konstantin A., Yakovleva, Tatjana, Dooijes, Dennis, Van de Warrenburg, Bart P.C., Zubarev, Roman A., Kremer, Berry, Knapp, Pamela E., Hauser, Kurt F., Wijmenga, Cisca, Nyberg, Fred, Sinke, Richard J., Verbeek, Dineke S.
Publicat 2010

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

per 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.
Publicat a Genome Med (2020)

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

per 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
Publicat a BMC Med Genomics (2016)