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Author/Creator Kloosterman, Wigard

1. Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities. Issue 1 (20th November 2013)

Authors:
van der Crabben, Saskia N.; Harakalova, Magdalena; Brilstra, Eva H.; van Berkestijn, Frédérique M.C.; Hofstede, Floris C.; van Vught, Adrianus J.; Cuppen, Edwin; Kloosterman, Wigard; Ploos van Amstel, Hans Kristian; van Haaften, Gijs; van Haelst, Mieke M.
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 1(2014.)
Page Start:
29
Record Type:
Journal Article
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2. Mapping and phasing of structural variation in patient genomes using nanopore sequencing. Issue 1 (December 2017)

Authors:
Cretu Stancu, Mircea; Roosmalen, Markus; Renkens, Ivo; Nieboer, Marleen; Middelkamp, Sjors; Ligt, Joep; Pregno, Giulia; Giachino, Daniela; Mandrile, Giorgia; Espejo Valle-Inclan, Jose; Korzelius, Jerome; Bruijn, Ewart; Cuppen, Edwin; Talkowski, Michael; Marschall, Tobias; Ridder, Jeroen; Klooster...
Journal:
Nature communications
Issue:
Volume 8:Issue 1(2017)
Page Start:
1
Record Type:
Journal Article
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3. Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells. Issue 1 (December 2017)

Authors:
Middelkamp, Sjors; van Heesch, Sebastiaan; Braat, A.; de Ligt, Joep; van Iterson, Maarten; Simonis, Marieke; van Roosmalen, Markus; Kelder, Martijn; Kruisselbrink, Evelien; Hochstenbach, Ron; Verbeek, Nienke; Ippel, Elly; Adolfs, Youri; Pasterkamp, R.; Kloosterman, Wigard; Kuijk, Ewart; Cuppen, E...
Journal:
Genome medicine
Issue:
Volume 9:Issue 1(2017)
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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Available online (eLD content is only available in our Reading Rooms) ↗