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Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis

Journal of clinical oncology, 2015-06, Vol.33 (18), p.2084-2091

2015

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Dysfunction of the MDM2/p53 axis is linked to premature aging

The Journal of clinical investigation, 2017-10, Vol.127 (10), p.3598-3608

2017

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Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

Genome medicine, 2019-12, Vol.11 (1), p.85-85, Article 85

2019

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Review of How Genetic Research on Segmental Progeroid Syndromes Has Documented Genomic Instability as a Hallmark of Aging But Let Us Now Pursue Antigeroid Syndromes

The journals of gerontology. Series A, Biological sciences and medical sciences, 2021-02, Vol.76 (2), p.253-259

2021

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Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases

Npj genomic medicine, 2023-08, Vol.8 (1), p.20-20, Article 20

2023

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Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

Genetics in medicine, 2013-11, Vol.15 (11), p.860-867

2013

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How Research on Human Progeroid and Antigeroid Syndromes Can Contribute to the Longevity Dividend Initiative

Cold Spring Harbor perspectives in medicine, 2016-04, Vol.6 (4), p.a025882-a025882

2016

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Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2021-11, Vol.23 (11), p.2029-2037

2021

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Deletion of FUNDC2 and CMC4 on Chromosome Xq28 Is Sufficient to Cause Hypergonadotropic Hypogonadism in Men

Frontiers in genetics, 2020-09, Vol.11, p.557341-557341

2020

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Nav1.7 Mutant A863P in Erythromelalgia: Effects of Altered Activation and Steady-State Inactivation on Excitability of Nociceptive Dorsal Root Ganglion Neurons

The Journal of neuroscience, 2006-11, Vol.26 (48), p.12566-12575

2006

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Clinical utility gene card for: Werner Syndrome--Update 2014

European journal of human genetics : EJHG, 2015-06, Vol.23 (6), p.889-889

2015

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High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli–Seip syndrome

American journal of medical genetics. Part A, 2017-02, Vol.173 (2), p.471-478

2017

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Adults with lysosomal storage diseases in the undiagnosed diseases network

Molecular genetics & genomic medicine, 2022-09, Vol.10 (9), p.e2013-n/a

2022

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Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A

American journal of medical genetics. Part A, 2011-12, Vol.155A (12), p.3002-3006

2011

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First, do no harm: direct-to-consumer genetic testing

Genetics in medicine, 2019-02, Vol.21 (2), p.510-511

2019

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Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

American journal of human genetics, 2013-10, Vol.93 (4), p.631-640

2013

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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2

American journal of medical genetics. Part A, 2008-07, Vol.146A (13), p.1637-1654

2008

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Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Neuron (Cambridge, Mass.), 2013-01, Vol.77 (2), p.259-273

2013

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Diversity, inclusion and equity in medical genetics: The time is now

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2817-2819

2020

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The Current State of Genetic Testing Platforms for Inherited Retinal Diseases

Ophthalmology retina, 2022-08, Vol.6 (8), p.702-710

2022

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CNTNAP1 mutations in an adult with Charcot Marie Tooth disease

Muscle & nerve, 2019-11, Vol.60 (5), p.E28-E30

2019

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Electronic health records contain dispersed risk factor information that could be used to prevent breast and ovarian cancer

Journal of the American Medical Informatics Association : JAMIA, 2020-09, Vol.27 (9), p.1443-1449

2020

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Improving performance of multigene panels for genomic analysis of cancer predisposition

Genetics in medicine, 2016-10, Vol.18 (10), p.974-981

2016

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Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis

Dysfunction of the MDM2/p53 axis is linked to premature aging

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

Review of How Genetic Research on Segmental Progeroid Syndromes Has Documented Genomic Instability as a Hallmark of Aging But Let Us Now Pursue Antigeroid Syndromes

Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

How Research on Human Progeroid and Antigeroid Syndromes Can Contribute to the Longevity Dividend Initiative

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Deletion of FUNDC2 and CMC4 on Chromosome Xq28 Is Sufficient to Cause Hypergonadotropic Hypogonadism in Men

Nav1.7 Mutant A863P in Erythromelalgia: Effects of Altered Activation and Steady-State Inactivation on Excitability of Nociceptive Dorsal Root Ganglion Neurons

Clinical utility gene card for: Werner Syndrome--Update 2014

High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli–Seip syndrome

Adults with lysosomal storage diseases in the undiagnosed diseases network

Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A

First, do no harm: direct-to-consumer genetic testing

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Diversity, inclusion and equity in medical genetics: The time is now

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

The Current State of Genetic Testing Platforms for Inherited Retinal Diseases

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations

CNTNAP1 mutations in an adult with Charcot Marie Tooth disease

Electronic health records contain dispersed risk factor information that could be used to prevent breast and ovarian cancer

Improving performance of multigene panels for genomic analysis of cancer predisposition

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