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Increasing the diagnostic yield of exome sequencing by copy number variant analysis

PloS one, 2018-12, Vol.13 (12), p.e0209185-e0209185

2018

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Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time

Genetics in medicine, 2011-06, Vol.13 (6), p.499-504

2011

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Uromodulin and CKD: insight into variant pathogenicity

Kidney international, 2023-02, Vol.103 (2), p.248-250

2023

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Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

American journal of human genetics, 2015-07, Vol.97 (1), p.6-21

2015

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Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

American journal of human genetics, 2017-06, Vol.100 (6), p.895-906

2017

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ACMG clinical laboratory standards for next-generation sequencing

Genetics in medicine, 2013-09, Vol.15 (9), p.733-747

2013

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Genetics in medicine, 2013-07, Vol.15 (7), p.565-574

2013

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Melanin: a unifying theory of disease as exemplified by Parkinson’s, Alzheimer’s, and Lewy body dementia

Frontiers in immunology, 2023-09, Vol.14, p.1228530-1228530

2023

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Genome-scale sequencing in clinical care: establishing molecular diagnoses and measuring value

JAMA : the journal of the American Medical Association, 2014-11, Vol.312 (18), p.1865

Berg, Jonathan S

2014

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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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Analytical evidence to show letters impregnated with novel psychoactive substances are a means of getting drugs to inmates within the UK prison service

Annals of clinical biochemistry, 2018-11, Vol.55 (6), p.673-678

2018

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ClinGen — The Clinical Genome Resource

The New England journal of medicine, 2015-06, Vol.372 (23), p.2235-2242

2015

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Exploring the importance of case-level clinical information for variant interpretation

Genetics in medicine, 2017-01, Vol.19 (1), p.3-5

Berg, Jonathan S.

2017

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Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing

Annual review of genomics and human genetics, 2016-08, Vol.17 (1), p.303-332

2016

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Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks

Human mutation, 2018-11, Vol.39 (11), p.1531-1541

2018

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Genetics and Heart Failure: A Concise Guide for the Clinician

Current cardiology reviews, 2015-02, Vol.11 (1), p.10-17

2015

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Parent-Reported Clinical Utility of Pediatric Genomic Sequencing

Pediatrics (Evanston), 2023-08, Vol.152 (2), p.1

2023

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Finding the Rare Pathogenic Variants in a Human Genome

JAMA : the journal of the American Medical Association, 2017-05, Vol.317 (18), p.1904

2017

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Dnmt3a is essential for hematopoietic stem cell differentiation

Nature genetics, 2012-01, Vol.44 (1), p.23-31

2012

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Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes

Journal of medical genetics, 2015-02, Vol.52 (2), p.128-134

2015

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Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

Genetics in medicine, 2017-11, Vol.19 (11), p.1207-1216

2017

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ClinGen and ClinVar – Enabling Genomics in Precision Medicine

Human mutation, 2018-11, Vol.39 (11), p.1473-1475

2018

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A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders

Genetics in medicine, 2022-04, Vol.24 (4), p.969-969

2022

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Increasing the diagnostic yield of exome sequencing by copy number variant analysis

Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time

Uromodulin and CKD: insight into variant pathogenicity

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

ACMG clinical laboratory standards for next-generation sequencing

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Melanin: a unifying theory of disease as exemplified by Parkinson’s, Alzheimer’s, and Lewy body dementia

Genome-scale sequencing in clinical care: establishing molecular diagnoses and measuring value

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

Analytical evidence to show letters impregnated with novel psychoactive substances are a means of getting drugs to inmates within the UK prison service

ClinGen — The Clinical Genome Resource

Exploring the importance of case-level clinical information for variant interpretation

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing

Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks

Genetics and Heart Failure: A Concise Guide for the Clinician

Parent-Reported Clinical Utility of Pediatric Genomic Sequencing

Finding the Rare Pathogenic Variants in a Human Genome

Dnmt3a is essential for hematopoietic stem cell differentiation

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

ClinGen and ClinVar – Enabling Genomics in Precision Medicine

A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders

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