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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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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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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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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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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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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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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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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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Mutation (variation) databases and registries: a rationale for coordination of efforts

Nature reviews. Genetics, 2011-12, Vol.12 (12), p.881; discussion 881

2011

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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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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

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Sequence Variants of Uncertain Significance

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

Greenblatt, Marc S., MD

2015

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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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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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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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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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Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR)

Human mutation, 2007-07, Vol.28 (7), p.683-693

2007

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The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype

European journal of human genetics : EJHG, 2014-05, Vol.22 (5), p.617-624

2014

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

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

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

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

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

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

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

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

Mutation (variation) databases and registries: a rationale for coordination of efforts

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

Germ Line Mutations of Mismatch Repair Genes in Hereditary Nonpolyposis Colorectal Cancer Patients with Small Bowel Cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study

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

Understanding the Detailed Structural Effects of Missense Mutations

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

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

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR)

The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype

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