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Author/Creator Sinke, Richard

1. Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy. (November 2018)

Authors:
Herkert, Johanna; Abbott, Kristin; Birnie, Erwin; Meems-Veldhuis, Martine; Boven, Ludolf; Benjamins, Marloes; du Marchie Sarvaas, Gideon; Barge-Schaapveld, Daniela; van Tintelen, J; van der Zwaag, Paul; Vos, Yvonne; Sinke, Richard; van den Berg, Maarten; van Langen, Irene; Jongbloed, Jan
Journal:
Genetics in medicine
Issue:
Volume 20:Number 11(2018)
Page Start:
1374
Record Type:
Journal Article
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2. Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations. Issue 8 (1st August 2001)

Authors:
Ausems, Margreet G E M; ten Berg, Klara; Sandkuijl, Lodewijk A; Kroos, Marian A; Bardoel, Alfons F J; Roumelioti, Katerina N; Reuser, Arnold J J; Sinke, Richard; Wijmenga, Cisca
Journal:
Journal of medical genetics
Issue:
Volume 38:Issue 8(2001)
Page Start:
527
Record Type:
Journal Article
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3. Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. Issue 1 (December 2015)

Authors:
Rump, Patrick; Jazayeri, Omid; van Dijk-Bos, Krista; Johansson, Lennart; van Essen, Anthonie; Verheij, Johanna; Veenstra-Knol, Hermine; Redeker, Egbert; Mannens, Marcel; Swertz, Morris; Alizadeh, Behrooz; van Ravenswaaij-Arts, Conny; Sinke, Richard; Sikkema-Raddatz, Birgit
Journal:
BMC medical genomics
Issue:
Volume 9:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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4. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. Issue 8 (12th August 2012)

Authors:
Harakalova, Magdalena; van den Boogaard, Marie-Jose; Sinke, Richard; van Lieshout, Stef; van Tuil, Marc C; Duran, Karen; Renkens, Ivo; Terhal, Paulien A; de Kovel, Carolien; Nijman, Ies J; van Haelst, Mieke; Knoers, Nine V A M; van Haaften, Gijs; Kloosterman, Wigard; Hennekam, Raoul C M; Cuppen, ...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 8(2012)
Page Start:
539
Record Type:
Journal Article
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6. Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. Issue 7 (20th May 2015)

Authors:
van der Velde, K. Joeri; Kuiper, Joël; Thompson, Bryony A.; Plazzer, John‐Paul; van Valkenhoef, Gert; de Haan, Mark; Jongbloed, Jan D.H.; Wijmenga, Cisca; de Koning, Tom J.; Abbott, Kristin M.; Sinke, Richard; Spurdle, Amanda B.; Macrae, Finlay; Genuardi, Maurizio; Sijmons, Rolf H.; Swertz, Morri...
Journal:
Human mutation
Issue:
Volume 36:Issue 7(2015:Jul.)
Page Start:
712
Record Type:
Journal Article
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