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Author/Creator Westers, Helga

1. A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound. (20th July 2020)

Authors:
Corsten‐Janssen, Nicole; Bouman, Katelijne; Diphoorn, Janouk C. D.; Scheper, Arjen J.; Kinds, Rianne; el Mecky, Julia; Breet, Hanna; Verheij, Joke B. G. M.; Suijkerbuijk, Ron; Duin, Leonie K.; Manten, Gwendolyn T. R.; van Langen, Irene M.; Sijmons, Rolf H.; Sikkema‐Raddatz, Birgit; Westers, Helga...
Journal:
Prenatal diagnosis
Issue:
Volume 40:Number 10(2020)
Page Start:
1300
Record Type:
Journal Article
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2. CoNVaDING: Single Exon Variation Detection in Targeted NGS Data. Issue 5 (24th February 2016)

Authors:
Johansson, Lennart F.; van Dijk, Freerk; de Boer, Eddy N.; van Dijk‐Bos, Krista K.; Jongbloed, Jan D.H.; van der Hout, Annemieke H.; Westers, Helga; Sinke, Richard J.; Swertz, Morris A.; Sijmons, Rolf H.; Sikkema‐Raddatz, Birgit
Journal:
Human mutation
Issue:
Volume 37:Issue 5(2016)
Page Start:
457
Record Type:
Journal Article
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3. Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia. (2nd February 2023)

Authors:
Ghorbani, Fatemeh; de Boer, Eddy N.; Benjamins-Stok, Marloes; Verschuuren-Bemelmans, Corien C.; Knapper, Jurjen; de Boer-Bergsma, Jelkje; de Vries, Jeroen J.; Sikkema-Raddatz, Birgit; Verbeek, Dineke S.; Westers, Helga; van Diemen, Cleo C.
Journal:
Neurology
Issue:
Volume 9:Number 1(2023)
Page Start:
Record Type:
Journal Article
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4. Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients. (1st June 2021)

Authors:
Alimohamed, Mohamed Z.; Johansson, Lennart F.; Posafalvi, Anna; Boven, Ludolf G.; van Dijk, Krista K.; Walters, Lisa; Vos, Yvonne J.; Westers, Helga; Hoedemaekers, Yvonne M.; Sinke, Richard J.; Sijmons, Rolf H.; Sikkema-Raddatz, Birgit; Jongbloed, Jan D.H.; van der Zwaag, Paul A.
Journal:
International journal of cardiology
Issue:
Volume 332(2021)
Page Start:
99
Record Type:
Journal Article
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5. Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose‐dependent disease severity. Issue 6 (1st April 2022)

Authors:
Vermeer, Mathilde C. S. C.; Andrei, Daniela; Kramer, Duco; Nijenhuis, Albertine M.; Hoedemaekers, Yvonne M.; Westers, Helga; Jongbloed, Jan D. H.; Pas, Hendri H.; van den Berg, Maarten P.; Silljé, Herman H. W.; van der Meer, Peter; Bolling, Maria C.
Journal:
Experimental dermatology
Issue:
Volume 31:Issue 6(2022)
Page Start:
970
Record Type:
Journal Article
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6. High Frequency of RPL22 Mutations in Microsatellite‐Unstable Colorectal and Endometrial Tumors. Issue 12 (December 2014)

Authors:
Ferreira, Ana M.; Tuominen, Iina; van Dijk‐Bos, Krista; Sanjabi, Bahram; van der Sluis, Tineke; van der Zee, Ate G.; Hollema, Harry; Zazula, Monika; Sijmons, Rolf H.; Aaltonen, Lauri A.; Westers, Helga; Hofstra, Robert M.W.
Journal:
Human mutation
Issue:
Volume 35:Issue 12(2014:Dec.)
Page Start:
1442
Record Type:
Journal Article
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7. New Target Genes in Endometrial Tumors Show a Role for the Estrogen‐Receptor Pathway in Microsatellite‐Unstable Cancers. Issue 12 (December 2014)

Authors:
Ferreira, Ana M.; Tuominen, Iina; Sousa, Sónia; Gerbens, Frans; van Dijk‐Bos, Krista; Osinga, Jan; Kooi, Krista A.; Sanjabi, Bahram; Esendam, Chris; Oliveira, Carla; Terpstra, Peter; Hardonk, Menno; van der Sluis, Tineke; Zazula, Monika; Stachura, Jerzy; van der Zee, Ate G.; Hollema, Harry; Sijmo...
Journal:
Human mutation
Issue:
Volume 35:Issue 12(2014:Dec.)
Page Start:
1514
Record Type:
Journal Article
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