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HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Human mutation, 2016-06, Vol.37 (6), p.564-569

2016

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Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

Genetics in medicine, 2018-09, Vol.20 (9), p.1054-1060

2018

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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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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

American journal of human genetics, 2022-12, Vol.109 (12), p.2163-2177

2022

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Improving transparency of computational tools for variant effect prediction

Nature genetics, 2024-07, Vol.56 (7), p.1324-1326

2024

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Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

Human mutation, 2008-11, Vol.29 (11), p.1282-1291

2008

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Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions

PloS one, 2020-08, Vol.15 (8), p.e0233673-e0233673

2020

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In silico analysis of missense substitutions using sequence-alignment based methods

Human mutation, 2008-11, Vol.29 (11), p.1327-1336

2008

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Sequence Variants of Uncertain Significance: What to Do When Genetic Test Results Are Not Definitive

Surgical oncology clinics of North America, 2015-10, Vol.24 (4), p.833-846

Greenblatt, Marc S

2015

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Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

Human mutation, 2008-11, Vol.29 (11), p.1265-1272

2008

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A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome

Genetics in medicine, 2019-07, Vol.21 (7), p.1486-1496

2019

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Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

Genetics in medicine, 2024-07, p.101213, Article 101213

2024

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Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group

Human mutation, 2008-11, Vol.29 (11), p.1261-1264

2008

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Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

Genetics in medicine, 2019-07, Vol.21 (7), p.1507-1516

2019

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Universal Versus Targeted Screening for Lynch Syndrome: Comparing Ascertainment and Costs Based on Clinical Experience

Digestive diseases and sciences, 2016-10, Vol.61 (10), p.2887-2895

2016

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

Genetics in medicine, 2020-05, Vol.22 (5), p.847-856

2020

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Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

Human mutation, 2013-01, Vol.34 (1), p.255-265

2013

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Methods and tools for assessing the impact of genetic variations: The 2017 Annual Scientific Meeting of the Human Genome Variation Society

Human mutation, 2018-03, Vol.39 (3), p.454-458

2018

Volltextzugriff (PDF)

Sequence Variants of Uncertain Significance

Surgical oncology clinics of North America, 2015-10, Vol.24 (4), p.833-846

Greenblatt, Marc S., MD

2015

Volltextzugriff (PDF)

Assessment of functional effects of unclassified genetic variants

Human mutation, 2008-11, Vol.29 (11), p.1314-1326

2008

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Multi-gene panel testing for hereditary cancer susceptibility in a rural Familial Cancer Program

Familial cancer, 2017, Vol.16 (1), p.159-166

2017

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Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians

Familial cancer, 2013-06, Vol.12 (2), p.181-187

2013

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Understanding the Detailed Structural Effects of Missense Mutations

Human mutation, 2010-09, Vol.31 (9), p.V-V

Greenblatt, Marc S.

2010

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P364: Exploring the effects of a point mutation in the 5’ UTR of APC found in a family with colon cancer

Genetics in Medicine Open, 2023, Vol.1 (1), p.100392, Article 100392

2023

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Clinically Relevant Variants - Identifying, Collecting, Interpreting, and Disseminating: The 2013 Annual Scientific Meeting of the Human Genome Variation Society

Human Mutation, 2014-04, Vol.35 (4), p.505-510

2014

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HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

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

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Improving transparency of computational tools for variant effect prediction

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions

In silico analysis of missense substitutions using sequence-alignment based methods

Sequence Variants of Uncertain Significance: What to Do When Genetic Test Results Are Not Definitive

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

Universal Versus Targeted Screening for Lynch Syndrome: Comparing Ascertainment and Costs Based on Clinical Experience

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

Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

Methods and tools for assessing the impact of genetic variations: The 2017 Annual Scientific Meeting of the Human Genome Variation Society

Sequence Variants of Uncertain Significance

Assessment of functional effects of unclassified genetic variants

Multi-gene panel testing for hereditary cancer susceptibility in a rural Familial Cancer Program

Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians

Understanding the Detailed Structural Effects of Missense Mutations

P364: Exploring the effects of a point mutation in the 5’ UTR of APC found in a family with colon cancer

Clinically Relevant Variants - Identifying, Collecting, Interpreting, and Disseminating: The 2013 Annual Scientific Meeting of the Human Genome Variation Society

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