Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time

Jeroen van Rooij; Pascal Arp; Linda Broer; Joost Verlouw; FJA van Rooij; Robert Kraaij; André Uitterlinden; Annemieke Verkerk

doi:10.1038/s41436-020-0900-8

Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time

Jeroen van Rooij, Pascal Arp, Linda Broer, Joost Verlouw, FJA van Rooij, Robert Kraaij, André Uitterlinden, Annemieke Verkerk

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

26 Citations (Scopus)

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Original language	English
Pages (from-to)	1812-1820
Number of pages	9
Journal	Genetics in Medicine
Volume	22
Issue number	11
DOIs	https://doi.org/10.1038/s41436-020-0900-8
Publication status	Published - 2020

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EMC OR-01

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10.1038/s41436-020-0900-8

Repub_128926_O-A.pdfFinal published version, 1.1 MB

http://hdl.handle.net/1765/128926

Cite this

@article{8d412024cc20415bb3ff03bf6de597dc,

title = "Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time",

author = "{van Rooij}, Jeroen and Pascal Arp and Linda Broer and Joost Verlouw and {van Rooij}, FJA and Robert Kraaij and Andr{\'e} Uitterlinden and Annemieke Verkerk",

year = "2020",

doi = "10.1038/s41436-020-0900-8",

language = "English",

volume = "22",

pages = "1812--1820",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Elsevier",

number = "11",

}

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T1 - Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time

AU - van Rooij, Jeroen

AU - Arp, Pascal

AU - Broer, Linda

AU - Verlouw, Joost

AU - van Rooij, FJA

AU - Kraaij, Robert

AU - Uitterlinden, André

AU - Verkerk, Annemieke

PY - 2020

Y1 - 2020

U2 - 10.1038/s41436-020-0900-8

DO - 10.1038/s41436-020-0900-8

M3 - Article

C2 - 32665702

SN - 1098-3600

VL - 22

SP - 1812

EP - 1820

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 11

ER -