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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Genome medicine, 2019-12, Vol.12 (1), p.3-3, Article 3

2019

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ATR-Chk1 activation mitigates replication stress caused by mismatch repair-dependent processing of DNA damage

Proceedings of the National Academy of Sciences - PNAS, 2018-02, Vol.115 (7), p.1523-1528

2018

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Genotype to phenotype: Analyzing the effects of inherited mutations in colorectal cancer families

Mutation research, 2010-11, Vol.693 (1), p.32-45

Heinen, Christopher D.

2010

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Translating mismatch repair mechanism into cancer care

Current drug targets, 2014-01, Vol.15 (1), p.53

Heinen, Christopher D

2014

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The mismatch repair-dependent DNA damage response: Mechanisms and implications

DNA repair, 2019-06, Vol.78, p.60-69

2019

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Enhanced gene targeting to evaluate Lynch syndrome alterations

Proceedings of the National Academy of Sciences - PNAS, 2016-04, Vol.113 (15), p.3918-3920

2016

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Translational profiling of retinal ganglion cell optic nerve regeneration in Xenopus laevis

Developmental biology, 2017-06, Vol.426 (2), p.360-373

2017

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Mismatch repair defects and Lynch syndrome: The role of the basic scientist in the battle against cancer

DNA repair, 2016-02, Vol.38, p.127-134

Heinen, Christopher D.

2016

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Milestones of Lynch syndrome: 1895-2015

Nature reviews. Cancer, 2015-03, Vol.15 (3), p.181

2015

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Mutations in BRAF and KRAS differentially distinguish serrated versus non-serrated hyperplastic aberrant crypt foci in humans

Cancer research (Chicago, Ill.), 2007-04, Vol.67 (8), p.3551-3554

2007

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DNA Mismatch Repair Proteins Are Required for Efficient Herpes Simplex Virus 1 Replication

Journal of Virology, 2011-12, Vol.85 (23), p.12241-12253

2011

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Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo

Human mutation, 2010-10, Vol.31 (10), p.E1699-E1708

2010

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Human Pluripotent Stem Cells Have a Novel Mismatch Repair-dependent Damage Response

The Journal of biological chemistry, 2014-08, Vol.289 (35), p.24314-24324

2014

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Hereditary Cancer-associated Missense Mutations in hMSH6 Uncouple ATP Hydrolysis from DNA Mismatch Binding

The Journal of biological chemistry, 2008-11, Vol.283 (46), p.31641-31648

2008

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Aberrant crypt foci as predictors of colorectal neoplasia on repeat colonoscopy

Cancer causes & control, 2012-02, Vol.23 (2), p.355-361

2012

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Increased Frequency of Serrated Aberrant Crypt Foci Among Smokers

The American journal of gastroenterology, 2010-07, Vol.105 (7), p.1648-1654

2010

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DNA Repair and Tumorigenesis: Lessons from Hereditary Cancer Syndromes

Cancer biology & therapy, 2002-09, Vol.1 (5), p.477-485

2002

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Loss of DNA mismatch repair imparts a selective advantage in planarian adult stem cells

PloS one, 2011-07, Vol.6 (7), p.e21808

2011

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Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays

Hereditary cancer in clinical practice, 2012-07, Vol.10 (1), p.9-9, Article 9

2012

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Functional interrogation of Lynch syndrome‐associated MSH2 missense variants via CRISPR‐Cas9 gene editing in human embryonic stem cells

Human mutation, 2019-11, Vol.40 (11), p.2044-2056

2019

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Functional and phenotypic consequences of an unusual inversion in MSH2

Familial cancer, 2024-03, Vol.23 (1), p.1-7

2024

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Exercise as medicine for depressive symptoms? A systematic review and meta-analysis with meta-regression

British journal of sports medicine, 2023-08, Vol.57 (16), p.1049-1057

2023

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HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions

Cancer cell, 2002-06, Vol.1 (5), p.469-478

2002

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A calibrated cell‐based functional assay to aid classification of MLH1 DNA mismatch repair gene variants

Human mutation, 2022-12, Vol.43 (12), p.2295-2307

2022

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Loss of mismatch repair promotes a direct selective advantage in human stem cells

Stem cell reports, 2022-12, Vol.17 (12), p.2661-2673

2022

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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

ATR-Chk1 activation mitigates replication stress caused by mismatch repair-dependent processing of DNA damage

Genotype to phenotype: Analyzing the effects of inherited mutations in colorectal cancer families

Translating mismatch repair mechanism into cancer care

The mismatch repair-dependent DNA damage response: Mechanisms and implications

Enhanced gene targeting to evaluate Lynch syndrome alterations

Translational profiling of retinal ganglion cell optic nerve regeneration in Xenopus laevis

Mismatch repair defects and Lynch syndrome: The role of the basic scientist in the battle against cancer

Milestones of Lynch syndrome: 1895-2015

Mutations in BRAF and KRAS differentially distinguish serrated versus non-serrated hyperplastic aberrant crypt foci in humans

DNA Mismatch Repair Proteins Are Required for Efficient Herpes Simplex Virus 1 Replication

Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo

Human Pluripotent Stem Cells Have a Novel Mismatch Repair-dependent Damage Response

Hereditary Cancer-associated Missense Mutations in hMSH6 Uncouple ATP Hydrolysis from DNA Mismatch Binding

Aberrant crypt foci as predictors of colorectal neoplasia on repeat colonoscopy

Increased Frequency of Serrated Aberrant Crypt Foci Among Smokers

DNA Repair and Tumorigenesis: Lessons from Hereditary Cancer Syndromes

Loss of DNA mismatch repair imparts a selective advantage in planarian adult stem cells

Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays

Functional interrogation of Lynch syndrome‐associated MSH2 missense variants via CRISPR‐Cas9 gene editing in human embryonic stem cells

Functional and phenotypic consequences of an unusual inversion in MSH2

Exercise as medicine for depressive symptoms? A systematic review and meta-analysis with meta-regression

HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions

A calibrated cell‐based functional assay to aid classification of MLH1 DNA mismatch repair gene variants

Loss of mismatch repair promotes a direct selective advantage in human stem cells

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