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ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2021-08, Vol.23 (8), p.1381-1390

2021

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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

Genetics in medicine, 2017-02, Vol.19 (2), p.249-255

2017

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Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

Genetics in medicine, 2019-05, Vol.21 (5), p.1100-1110

2019

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ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2023-08, Vol.25 (8), p.100866-100866, Article 100866

2023

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ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

Genetics in medicine, 2008-04, Vol.10 (4), p.294-300

2008

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Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

American journal of human genetics, 2018-06, Vol.102 (6), p.1078-1089

2018

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Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

Contemporary clinical trials, 2017-02, Vol.53, p.100-105

2017

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Novel recruitment approaches and operational results for a statewide population Cohort for cancer research: The Healthy Oregon Project

Journal of clinical and translational science, 2024, Vol.8 (1), p.e32-e32

2024

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Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

Genetics in medicine, 2019-05, Vol.21 (5), p.1261-1262

2019

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Artificial intelligence (AI)-assisted exome reanalysis greatly aids in the identification of new positive cases and reduces analysis time in a clinical diagnostic laboratory

Genetics in medicine, 2022-01, Vol.24 (1), p.192-200

2022

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Prevalence and Distribution of the c.1436C→T Sequence Variant of Carnitine Palmitoyltransferase 1A among Alaska Native Infants

The Journal of pediatrics, 2011, Vol.158 (1), p.46-51

2011

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Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

Genetics in medicine, 2019-05, Vol.21 (5), p.1100-1110

2019

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Missense variant in RBM10 associated with mild and non‐lethal form of TARP syndrome

Clinical genetics, 2023-08, Vol.104 (2), p.269-271

2023

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Venous thromboembolism laboratory testing (factor V Leiden andfactor II c.97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2018-12, Vol.20 (12), p.1489-1498

2018

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A Homozygous Mutation in MSH6 Causes Turcot Syndrome

Clinical cancer research, 2005-07, Vol.11 (13), p.4689-4693

2005

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Identification of the CFTR p.Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient

Clinical genetics, 2013-06, Vol.83 (6), p.598-599

2013

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An Educational Assessment of Evidence Used for Variant Classification: A Report of the Association for Molecular Pathology

The Journal of molecular diagnostics : JMD, 2022-06, Vol.24 (6), p.555-565

2022

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Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1

Genetics in medicine, 2016-12, Vol.18 (12), p.1290-1294

2016

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Response to Biesecker and Harrison

Genetics in medicine, 2018-12, Vol.20 (12), p.1689-1690

2018

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Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study

The Journal of molecular diagnostics : JMD, 2008, Vol.10 (1), p.2-12

2008

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A Comparative Study of Five Technologically Diverse CFTR Testing Platforms

The Journal of molecular diagnostics : JMD, 2007-07, Vol.9 (3), p.401-407

2007

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ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

Novel recruitment approaches and operational results for a statewide population Cohort for cancer research: The Healthy Oregon Project

Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

Artificial intelligence (AI)-assisted exome reanalysis greatly aids in the identification of new positive cases and reduces analysis time in a clinical diagnostic laboratory

Prevalence and Distribution of the c.1436C→T Sequence Variant of Carnitine Palmitoyltransferase 1A among Alaska Native Infants

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

Missense variant in RBM10 associated with mild and non‐lethal form of TARP syndrome

Venous thromboembolism laboratory testing (factor V Leiden andfactor II c.97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

A Homozygous Mutation in MSH6 Causes Turcot Syndrome

Identification of the CFTR p.Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient

An Educational Assessment of Evidence Used for Variant Classification: A Report of the Association for Molecular Pathology

Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1

Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Response to Biesecker and Harrison

Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study

A Comparative Study of Five Technologically Diverse CFTR Testing Platforms

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