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Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

American journal of human genetics, 2012-07, Vol.91 (1), p.97-108

2012

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Applications of artificial intelligence in clinical laboratory genomics

American journal of medical genetics. Part C, Seminars in medical genetics, 2023-09, Vol.193 (3), p.e32057

2023

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Motivators for participation in a whole-genome sequencing study: implications for translational genomics research

European journal of human genetics : EJHG, 2011-12, Vol.19 (12), p.1213-1217

2011

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Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study

European journal of human genetics : EJHG, 2013-03, Vol.21 (3), p.261-265

2013

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A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings

Genetics in medicine, 2021-12, Vol.23 (12), p.2260-2269

2021

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The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

Genome Research, 2009-09, Vol.19 (9), p.1665-1674

2009

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Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors

Journal of genetic counseling, 2013-06, Vol.22 (3), p.291-295

2013

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Research participants' attitudes towards the confidentiality of genomic sequence information

European journal of human genetics : EJHG, 2014-08, Vol.22 (8), p.964-968

2014

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Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Nature genetics, 2023-07, Vol.55 (7), p.1149-1163

2023

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Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies

Muscle & nerve, 2021-04, Vol.63 (4), p.516-524

2021

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Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

JAMA network open, 2023-10, Vol.6 (10), p.e2339571-e2339571

2023

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P073: Novel high-throughput functional models for MLH1, MSH2, and PMS2 have high accuracy for clinical variant classification

Genetics in Medicine Open, 2024, Vol.2, p.100955, Article 100955

2024

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O31: The landscape of variant reclassification: Learnings from over 2 million classified variants in over 3.6 million individuals

Genetics in Medicine Open, 2024, Vol.2, p.101472, Article 101472

2024

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Validation of My Family Health Portrait for six common heritable conditions

Genetics in medicine, 2010-06, Vol.12 (6), p.370-375

2010

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P277: Modeling cellular evidence: Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant interpretation

Genetics in Medicine Open, 2023, Vol.1 (1), p.100305, Article 100305

2023

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A Genetic Counselor’s Guide to Using Next-Generation Sequencing in Clinical Practice

Journal of genetic counseling, 2014-08, Vol.23 (4), p.455-462

2014

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P164: Scalable Bayesian variant interpretation of Lynch syndrome genes using genotype and phenotype data for over 1.5M patients referred for testing

Genetics in Medicine Open, 2024, Vol.2, p.101061, Article 101061

2024

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Using the diffusion of innovations model to guide participant engagement in the genomics era

Journal of genetic counseling, 2019-04, Vol.28 (2), p.419-427

2019

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Genomic Inheritances: Disclosing Individual Research Results From Whole-Exome Sequencing to Deceased Participants' Relatives

American journal of bioethics, 2012-10, Vol.12 (10), p.1-8

2012

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P244: Developing Bayesian graphical models to provide continuous, probabilistic variant interpretation

Genetics in Medicine Open, 2023, Vol.1 (1), p.100272, Article 100272

2023

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P490: The impact of machine learning algorithms in reducing VUS for individuals from underrepresented populations compared to well studied populations

Genetics in Medicine Open, 2023, Vol.1 (1), p.100537, Article 100537

2023

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Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research

BMC medical genomics, 2012-10, Vol.5 (1), p.45-45, Article 45

2012

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Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait

Genetics in medicine, 2015-09, Vol.17 (9), p.753-756

2015

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THE IMPACT OF MACHINE LEARNING MODELS IN REDUCING VARIANTS OF UNCERTAIN SIGNIFICANCE (VUS) FOR INDIVIDUALS FROM UNDERREPRESENTED POPULATIONS WHO ARE UNDERGOING TESTING FOR INHERITED METABOLIC DISORDERS

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107433, Article 107433

2023

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Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

Applications of artificial intelligence in clinical laboratory genomics

Motivators for participation in a whole-genome sequencing study: implications for translational genomics research

Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study

A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors

Research participants' attitudes towards the confidentiality of genomic sequence information

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

P073: Novel high-throughput functional models for MLH1, MSH2, and PMS2 have high accuracy for clinical variant classification

O31: The landscape of variant reclassification: Learnings from over 2 million classified variants in over 3.6 million individuals

Validation of My Family Health Portrait for six common heritable conditions

P277: Modeling cellular evidence: Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant interpretation

A Genetic Counselor’s Guide to Using Next-Generation Sequencing in Clinical Practice

P164: Scalable Bayesian variant interpretation of Lynch syndrome genes using genotype and phenotype data for over 1.5M patients referred for testing

Using the diffusion of innovations model to guide participant engagement in the genomics era

Genomic Inheritances: Disclosing Individual Research Results From Whole-Exome Sequencing to Deceased Participants' Relatives

P244: Developing Bayesian graphical models to provide continuous, probabilistic variant interpretation

P490: The impact of machine learning algorithms in reducing VUS for individuals from underrepresented populations compared to well studied populations

Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research

Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait

THE IMPACT OF MACHINE LEARNING MODELS IN REDUCING VARIANTS OF UNCERTAIN SIGNIFICANCE (VUS) FOR INDIVIDUALS FROM UNDERREPRESENTED POPULATIONS WHO ARE UNDERGOING TESTING FOR INHERITED METABOLIC DISORDERS

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