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Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations.
Published in:
2016
By:
- Turcan, Iana;
- Pasmooij, Anna M. G.;
- Van den Akker, Peter C.;
- Lemmink, Henny;
- Sinke, Richard J.;
- Jonkman, Marcel F.
Publication type:
journal article
Heterozygosity for a Novel Missense Mutation in the ITGB4 Gene Associated With Autosomal Dominant Epidermolysis Bullosa.
Published in:
2016
By:
- Turcan, Iana;
- Pasmooij, Anna M. G.;
- van den Akker, Peter C.;
- Lemmink, Henny;
- Halmos, Gyorgy B.;
- Sinke, Richard J.;
- Jonkman, Marcel F.
Publication type:
journal article
Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study.
Published in:
2001
By:
- Giltay, Jacques C.;
- Ausems, Margreet G. E. M.;
- van Seumeren, Ineke;
- Zewald, Richard A.;
- Sinke, Richard J.;
- Faas, Brigit;
- de Vroede, Monique;
- Giltay, J C;
- Ausems, M G;
- van Seumeren, I;
- Zewald, R A;
- Sinke, R J;
- Faas, B;
- de Vroede, M
Publication type:
journal article
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
Published in:
2017
By:
- Nibbeling, Esther A. R.;
- Duarri, Anna;
- Verschuuren-Bemelmans, Corien C.;
- Fokkens, Michiel R.;
- Karjalainen, Juha M.;
- Smeets, Cleo J. L. M.;
- de Boer-Bergsma, Jelkje J.;
- van der Vries, Gerben;
- Dooijes, Dennis;
- Bampi, Giovana B.;
- Diemen, Cleo van;
- Brunt, Ewout;
- Ippel, Elly;
- Kremer, Berry;
- Vlak, Monique;
- Adir, Noam;
- Wijmenga, Cisca;
- van de Warrenburg, Bart P. C.;
- Franke, Lude;
- Sinke, Richard J.
Publication type:
journal article
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.
Published in:
European Journal of Pediatrics, 2023, v. 182, n. 6, p. 2683, doi. 10.1007/s00431-023-04909-1
By:
- 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
Publication type:
Article
NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results.
Published in:
Scientific Reports, 2016, p. 38359, doi. 10.1038/srep38359
By:
- 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.
Publication type:
Article
Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases.
Published in:
PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0116599
By:
- 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.
Publication type:
Article
The MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts.
Published in:
Human Genetics, 2008, v. 124, n. 5, p. 525, doi. 10.1007/s00439-008-0569-6
By:
- van den Boogaard, Marie-José;
- de Costa, Dominique;
- Krapels, Ingrid P. C.;
- Fan Liu;
- van Duijn, Cock;
- Sinke, Richard J.;
- Lindhout, Dick;
- Steegers-Theunissen, Régine P. M.
Publication type:
Article
Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.
Published in:
Human Genetics, 2005, v. 117, n. 1, p. 88, doi. 10.1007/s00439-005-1278-z
By:
- Verbeek, Dineke S.;
- van de Warrenburg, Bart P.C.;
- Hennekam, F.A.M.;
- Dooijes, Dennis;
- Ippel, P. F.;
- Verschuuren-Bemelmans, Corien C.;
- Kremer, H. P. H.;
- Sinke, Richard J.
Publication type:
Article
Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.
Published in:
Human Genetics, 2002, v. 111, n. 4/5, p. 388, doi. 10.1007/s00439-002-0782-7
By:
- Verbeek, Dineke S.;
- Schelhaas, Jurgen H.;
- Ippel, Elly F.;
- Beemer, Frits A.;
- Pearson, Peter L.;
- Sinke, Richard J.
Publication type:
Article
Clinical utility gene card for: Dilated Cardiomyopathy (CMD).
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1, doi. 10.1038/ejhg.2012.276
By:
- Posafalvi, Anna;
- Herkert, Johanna C;
- Sinke, Richard J;
- van den Berg, Maarten P;
- Mogensen, Jens;
- Jongbloed, Jan D H;
- van Tintelen, J Peter
Publication type:
Article
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 161, doi. 10.1038/ejhg.2011.174
By:
- 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
Publication type:
Article
Accurate determination of microsatellite allele frequencies in pooled DNA samples.
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 11, p. 925, doi. 10.1038/sj.ejhg.5201234
By:
- Schnack, Hugo G;
- Bakker, Steven C;
- van't Slot, Ruben;
- Groot, Bart M;
- Sinke, Richard J;
- Kahn, Rene S;
- Pearson, Peter L
Publication type:
Article
Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations.
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 6, p. 441, doi. 10.1038/sj.ejhg.5201167
By:
- Verbeek, Dineke S.;
- Piersma, Systse J.;
- Hennekam, Eric FAM;
- Ippel, Elly F.;
- Pearson, Peter L.;
- Sinke, Richard J.
Publication type:
Article
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
Published in:
BMC Medical Genomics, 2016, p. 1, doi. 10.1186/s12920-016-0167-8
By:
- 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
Publication type:
Article
SCA19 and SCA22: evidence for one locus with a worldwide distribution.
Published in:
Brain: A Journal of Neurology, 2004, v. 127, n. 1, p. 6
By:
- Helenius J. Schelhaas;
- Dineke S. Verbeek;
- Bart P. C. Van de Warrenburg;
- Richard J. Sinke
Publication type:
Article
Successful Noninvasive Trisomy 18 Detection Using Single Molecule Sequencing.
Published in:
Clinical Chemistry, 2013, v. 59, n. 4, p. 705, doi. 10.1373/clinchem.2012.196212
By:
- den Oever, Jessica M. E. van;
- Balkassmi, Sahila;
- Johansson, Lennart F.;
- van Scheltema, Phebe N. Adama;
- Suijkerbuijk, Ron F.;
- Hoffer, Mariëtte J. V.;
- Sinke, Richard J.;
- Bakker, Egbert;
- Sikkema-Raddatz, Birgit;
- Boon, Elles M. J.
Publication type:
Article
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Published in:
Annals of Neurology, 2012, v. 72, n. 6, p. 870, doi. 10.1002/ana.23700
By:
- Duarri, Anna;
- Jezierska, Justyna;
- Fokkens, Michiel;
- Meijer, Michel;
- Schelhaas, Helenius J.;
- den Dunnen, Wilfred F. A.;
- van Dijk, Freerk;
- Verschuuren-Bemelmans, Corien;
- Hageman, Gerard;
- van de Vlies, Pieter;
- Küsters, Benno;
- van de Warrenburg, Bart P.;
- Kremer, Berry;
- Wijmenga, Cisca;
- Sinke, Richard J.;
- Swertz, Morris A.;
- Kampinga, Harm H.;
- Boddeke, Erik;
- Verbeek, Dineke S.
Publication type:
Article
Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch–French cohort.
Published in:
Annals of Neurology, 2005, v. 57, n. 4, p. 505
By:
- Bart P. C. van de Warrenburg;
- Harrie Hendriks;
- Alexandra Dürr;
- Martin C. A. van Zuijlen;
- Giovanni Stevanin;
- Agnès Camuzat;
- Richard J. Sinke;
- Alexis Brice;
- Berry P. H. Kremer
Publication type:
Article
Feasibility of predicting allele specific expression from DNA sequencing using machine learning.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-89904-y
By:
- 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
Publication type:
Article
Altered secondary structure of Dynorphin A associates with loss of opioid signalling and NMDA-mediated excitotoxicity in SCA23.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 13, p. 2728, doi. 10.1093/hmg/ddw130
By:
- Smeets, Cleo J. L. M.;
- Zmorzyńska, Justyna;
- Melo, Manuel N.;
- Stargardt, Anita;
- Dooley, Colette;
- Bakalkin, Georgy;
- McLaughlin, Jay;
- Sinke, Richard J.;
- Marrink, Siewert-Jan;
- Reits, Eric;
- Verbeek, Dineke S.
Publication type:
Article
Definition of a new entity of malignant extragonadal germ cell tumors.
Published in:
Genes, Chromosomes & Cancer, 1995, v. 12, n. 1, p. 8, doi. 10.1002/gcc.2870120103
By:
- van Echten, Jannie;
- de Jong, Bauke;
- Sinke, Richard J.;
- Weghuis, Daniël Olde;
- Sleijfer, Dirk Th.;
- Wolter Oosterhuis, J.
Publication type:
Article
Uniparental origin of i(12p) in human germ cell tumors.
Published in:
Genes, Chromosomes & Cancer, 1993, v. 6, n. 3, p. 161, doi. 10.1002/gcc.2870060306
By:
- Sinke, Richard J.;
- Suijkerbuijk, Ron F.;
- Jong, Bauke De;
- Oosterhuis, J. Wolter;
- Van Kessel, Ad Geurts
Publication type:
Article
Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.
Published in:
International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 17, doi. 10.3390/ijns8010017
By:
- 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.
Publication type:
Article
GAVIN: Gene-Aware Variant INterpretation for medical sequencing.
Published in:
Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-016-1141-7
By:
- van der Velde, K. Joeri;
- de Boer, Eddy N.;
- van Diemen, Cleo C.;
- Sikkema-Raddatz, Birgit;
- Knopperts, Alain;
- Franke, Lude;
- Sijmons, Rolf H.;
- de Koning, Tom J.;
- Wijmenga, Cisca;
- Sinke, Richard J.;
- Swertz, Morris A.
Publication type:
Article
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Published in:
Human Mutation, 2019, v. 40, n. 12, p. 2230, doi. 10.1002/humu.23896
By:
- Fokkema, Ivo F. A. C.;
- 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.;
- Koning, Bart;
- Thijs, Gert;
- Wieskamp, Nienke;
- Moritz, Ruben J. G.;
- Charbon, Bart;
- Saris, Jasper J.;
- den Dunnen, Johan T.
Publication type:
Article
CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.
Published in:
Human Mutation, 2016, v. 37, n. 5, p. 457, doi. 10.1002/humu.22969
By:
- Johansson, Lennart F.;
- Dijk, Freerk;
- Boer, Eddy N.;
- Dijk‐Bos, Krista K.;
- Jongbloed, Jan D.H.;
- der Hout, Annemieke H.;
- Westers, Helga;
- Sinke, Richard J.;
- Swertz, Morris A.;
- Sijmons, Rolf H.;
- Sikkema‐Raddatz, Birgit
Publication type:
Article
Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics.
Published in:
Human Mutation, 2013, v. 34, n. 7, p. 1035, doi. 10.1002/humu.22332
By:
- Sikkema‐Raddatz, Birgit;
- Johansson, Lennart F.;
- Boer, Eddy N.;
- Almomani, Rowida;
- Boven, Ludolf G.;
- Berg, Maarten P.;
- Spaendonck‐Zwarts, Karin Y.;
- Tintelen, J. Peter;
- Sijmons, Rolf H.;
- Jongbloed, Jan D. H.;
- Sinke, Richard J.
Publication type:
Article
High sibling correlation on methylphenidate response but no association with DAT1-10R homozygosity in Dutch sibpairs with ADHD.
Published in:
Journal of Child Psychology, 2005, v. 46, n. 10, p. 1074, doi. 10.1111/j.1469-7610.2005.01521.x
By:
- Meulen, Emma M.;
- Bakker, Steven C.;
- Pauls, David L.;
- Oteman, Nicole;
- Kruitwagen, Cas L.J.J.;
- Pearson, Peter L.;
- Sinke, Richard J.;
- Buitelaar, Jan K.
Publication type:
Article
Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels.
Published in:
Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0152-4
By:
- 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.;
- Jingyuan Fu;
- Wijmenga, Cisca;
- Sinke, Richard J.;
- Swertz, Morris A.;
- Franke, Lude
Publication type:
Article
No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.
Published in:
PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0203078
By:
- 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.
Publication type:
Article
Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.
Published in:
European Heart Journal, 2014, v. 35, n. 32, p. 2165, doi. 10.1093/eurheartj/ehu050
By:
- van Spaendonck-Zwarts, Karin Y.;
- Posafalvi, Anna;
- van den Berg, Maarten P.;
- Hilfiker-Kleiner, Denise;
- Bollen, Ilse A.E.;
- Sliwa, Karen;
- Alders, Mariëlle;
- Almomani, Rowida;
- van Langen, Irene M.;
- van der Meer, Peter;
- Sinke, Richard J.;
- van der Velden, Jolanda;
- Van Veldhuisen, Dirk J.;
- van Tintelen, J. Peter;
- Jongbloed, Jan D.H.
Publication type:
Article
Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype.
Published in:
2001
By:
- Van Alfen, Nens;
- Sinke, Richard J.;
- Zwarts, Michael J.;
- Gabreëls-Festen, Anneke;
- Praamstra, Peter;
- Kremer, Berry P.H.;
- Horstink, Martin W.I.M.;
- van Alfen, N;
- Sinke, R J;
- Zwarts, M J;
- Gabreëls-Festen, A;
- Praamstra, P;
- Kremer, B P;
- Horstink, M W
Publication type:
journal article
A post hoc study on gene panel analysis for the diagnosis of dystonia.
Published in:
2017
By:
- van Egmond, Martje E.;
- Lugtenberg, Coen H.A.;
- Brouwer, Oebele F.;
- Contarino, Maria Fiorella;
- Fung, Victor S.C.;
- Heiner ‐ Fokkema, M. Rebecca;
- van Hilten, Jacobus J.;
- van der Hout, Annemarie H.;
- Peall, Kathryn J.;
- Sinke, Richard J.;
- Roze, Emmanuel;
- Verschuuren ‐ Bemelmans, Corien C.;
- Willemsen, Michel A.;
- Wolf, Nicole I.;
- Tijssen, Marina A.;
- de Koning, Tom J.;
- Heiner-Fokkema, M Rebecca;
- Verschuuren-Bemelmans, Corien C
Publication type:
journal article
Ramsay hunt syndrome: Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.
Published in:
Movement Disorders, 2014, v. 29, n. 1, p. 139, doi. 10.1002/mds.25704
By:
- Egmond, Martje E.;
- Verschuuren‐Bemelmans, Corien C.;
- Nibbeling, Esther A.;
- Elting, Jan Willem J.;
- Sival, Deborah A.;
- Brouwer, Oebele F.;
- Vries, Jeroen J.;
- Kremer, Hubertus P.;
- Sinke, Richard J.;
- Tijssen, Marina A.;
- Koning, Tom J.
Publication type:
Article
Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype.
Published in:
Movement Disorders, 2006, v. 21, n. 7, p. 1025, doi. 10.1002/mds.20851
By:
- Vlak, Monique H.M.;
- Sinke, Richard J.;
- Rabelink, Gwenda M.;
- Kremer, Berry P.H.;
- van de Warrenburg, Bart P.C.
Publication type:
Article
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.
Published in:
Genome Medicine, 2020, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13073-020-00775-w
By:
- 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.
Publication type:
Article
Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?
Published in:
Molecular Brain, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13041-021-00736-3
By:
- 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.
Publication type:
Article

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