Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

I Fokkema; KJ Van der Velde; MK Slofstra; CAL Ruivenkamp; MJ Vogel; R Pfundt; MJC Blok; RHL Deprez; Q Waisfisz; KM Abbott; RJ Sinke; R Rahman; IJ Nijman; B de Koning; G Thijs; N Wieskamp; RJG Moritz; B Charbon; Jasper Saris; JT Dunnen; JFJ Laros; MA Swertz; ME van Gijn

doi:10.1002/humu.23896

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

I Fokkema, KJ Van der Velde, MK Slofstra, CAL Ruivenkamp, MJ Vogel, R Pfundt, MJC Blok, RHL Deprez, Q Waisfisz, KM Abbott, RJ Sinke, R Rahman, IJ Nijman, B de Koning, G Thijs, N Wieskamp, RJG Moritz, B Charbon, Jasper Saris, JT DunnenJFJ Laros, MA Swertz, ME van Gijn

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

34 Citations (Scopus)

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Original language	Undefined/Unknown
Pages (from-to)	2230-2238
Number of pages	9
Journal	Human Mutation
Volume	40
Issue number	12
DOIs	https://doi.org/10.1002/humu.23896
Publication status	Published - 2019

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EMC OR-01

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Repub_122238_O-A.pdfFinal published version, 897 KB

http://hdl.handle.net/1765/122238

Cite this

Fokkema, I., Van der Velde, KJ., Slofstra, MK., Ruivenkamp, CAL., Vogel, MJ., Pfundt, R., Blok, MJC., Deprez, RHL., Waisfisz, Q., Abbott, KM., Sinke, RJ., Rahman, R., Nijman, IJ., de Koning, B., Thijs, G., Wieskamp, N., Moritz, RJG., Charbon, B., Saris, J., ... van Gijn, ME. (2019). Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data. Human Mutation, 40(12), 2230-2238. https://doi.org/10.1002/humu.23896

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Fokkema, I, Van der Velde, KJ, Slofstra, MK, Ruivenkamp, CAL, Vogel, MJ, Pfundt, R, Blok, MJC, Deprez, RHL, Waisfisz, Q, Abbott, KM, Sinke, RJ, Rahman, R, Nijman, IJ, de Koning, B, Thijs, G, Wieskamp, N, Moritz, RJG, Charbon, B, Saris, J, Dunnen, JT, Laros, JFJ, Swertz, MA & van Gijn, ME 2019, 'Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data', Human Mutation, vol. 40, no. 12, pp. 2230-2238. https://doi.org/10.1002/humu.23896

TY - JOUR

T1 - Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

AU - Fokkema, I

AU - Van der Velde, KJ

AU - Slofstra, MK

AU - Ruivenkamp, CAL

AU - Vogel, MJ

AU - Pfundt, R

AU - Blok, MJC

AU - Deprez, RHL

AU - Waisfisz, Q

AU - Abbott, KM

AU - Sinke, RJ

AU - Rahman, R

AU - Nijman, IJ

AU - de Koning, B

AU - Thijs, G

AU - Wieskamp, N

AU - Moritz, RJG

AU - Charbon, B

AU - Saris, Jasper

AU - Dunnen, JT

AU - Laros, JFJ

AU - Swertz, MA

AU - van Gijn, ME

PY - 2019

Y1 - 2019

U2 - 10.1002/humu.23896

DO - 10.1002/humu.23896

M3 - Article

C2 - 31433103

SN - 1059-7794

VL - 40

SP - 2230

EP - 2238

JO - Human Mutation

JF - Human Mutation

IS - 12

ER -