Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome

Mark Drost; Y Tiersma; D Glubb; S Kathe; Stijn Hees; F Calléja; JBM Zonneveld; KM Boucher; RPE Ramlal; BA Thompson; LJ Rasmussen; MS Greenblatt; A van der Lee; AB Spurdle; SV Tavtigian; N de Wind

doi:10.1038/s41436-019-0736-2

Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome

Mark Drost
, Y Tiersma
, D Glubb
, S Kathe
, Stijn Hees
, F Calléja
, JBM Zonneveld
, KM Boucher
, RPE Ramlal
, BA Thompson
, LJ Rasmussen
, MS Greenblatt
, A van der Lee
, AB Spurdle
, SV Tavtigian
, N de Wind

Clinical Genetics

External organisation

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

23 Citations (Scopus)

69 Downloads (Pure)

Original language	English
Pages (from-to)	847-856
Number of pages	10
Journal	Genetics in Medicine
Volume	22
Issue number	5
DOIs	https://doi.org/10.1038/s41436-019-0736-2
Publication status	Published - 2020

Research programs

EMC OR-01

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10.1038/s41436-019-0736-2

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Cite this

Drost, M., Tiersma, Y., Glubb, D., Kathe, S., Hees, S., Calléja, F., Zonneveld, JBM., Boucher, KM., Ramlal, RPE., Thompson, BA., Rasmussen, LJ., Greenblatt, MS., van der Lee, A., Spurdle, AB., Tavtigian, SV., & de Wind, N. (2020). Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome. Genetics in Medicine, 22(5), 847-856. https://doi.org/10.1038/s41436-019-0736-2

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title = "Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome",

author = "Mark Drost and Y Tiersma and D Glubb and S Kathe and Stijn Hees and F Call{\'e}ja and JBM Zonneveld and KM Boucher and RPE Ramlal and BA Thompson and LJ Rasmussen and MS Greenblatt and \{van der Lee\}, A and AB Spurdle and SV Tavtigian and \{de Wind\}, N",

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doi = "10.1038/s41436-019-0736-2",

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Drost, M, Tiersma, Y, Glubb, D, Kathe, S, Hees, S, Calléja, F, Zonneveld, JBM, Boucher, KM, Ramlal, RPE, Thompson, BA, Rasmussen, LJ, Greenblatt, MS, van der Lee, A, Spurdle, AB, Tavtigian, SV & de Wind, N 2020, 'Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome', Genetics in Medicine, vol. 22, no. 5, pp. 847-856. https://doi.org/10.1038/s41436-019-0736-2

TY - JOUR

T1 - Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome

AU - Drost, Mark

AU - Tiersma, Y

AU - Glubb, D

AU - Kathe, S

AU - Hees, Stijn

AU - Calléja, F

AU - Zonneveld, JBM

AU - Boucher, KM

AU - Ramlal, RPE

AU - Thompson, BA

AU - Rasmussen, LJ

AU - Greenblatt, MS

AU - van der Lee, A

AU - Spurdle, AB

AU - Tavtigian, SV

AU - de Wind, N

PY - 2020

Y1 - 2020

U2 - 10.1038/s41436-019-0736-2

DO - 10.1038/s41436-019-0736-2

M3 - Article

C2 - 31965077

SN - 1098-3600

VL - 22

SP - 847

EP - 856

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 5

ER -