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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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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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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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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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Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases

Journal of medical genetics, 2022-05, Vol.59 (11), p.1087-1094

2022

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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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Cardiogenetics: a primer for the clinical cardiologist

Heart (British Cardiac Society), 2020-06, Vol.106 (12), p.938-947

2020

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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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Expanding the Spectrum of Endocrine Abnormalities Associated with SOX11-related Disorders

The journal of clinical endocrinology and metabolism, 2024-09

2024

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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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Search and Insights into Novel Genetic Alterations Leading to Classical and Atypical Werner Syndrome

Gerontology (Basel), 2014-01, Vol.60 (3), p.239-246

2014

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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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Chromosomal translocation resolves a diagnostic odyssey for familial Ruvalcaba syndrome

American journal of medical genetics. Part A, 2024-08, p.e63847

2024

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Human BDNF/TrkB variants impair hippocampal synaptogenesis and associate with neurobehavioural abnormalities

Scientific reports, 2020-06, Vol.10 (1), p.9028, Article 9028

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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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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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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Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia

Annals of neurology, 2014-04, Vol.75 (4), p.542-549

2014

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POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

Human mutation, 2015-11, Vol.36 (11), p.1070-1079

2015

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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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ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes

Human mutation, 2018-02, Vol.39 (2), p.255-265

2018

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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)

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

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

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

Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases

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

Cardiogenetics: a primer for the clinical cardiologist

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

Expanding the Spectrum of Endocrine Abnormalities Associated with SOX11-related Disorders

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

Search and Insights into Novel Genetic Alterations Leading to Classical and Atypical Werner Syndrome

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

Chromosomal translocation resolves a diagnostic odyssey for familial Ruvalcaba syndrome

Human BDNF/TrkB variants impair hippocampal synaptogenesis and associate with neurobehavioural abnormalities

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

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

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

Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

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

ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes

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