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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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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 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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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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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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Navigating the nuances of clinical sequence variant interpretation in Mendelian disease

Genetics in medicine, 2018-09, Vol.20 (9), p.918-926

2018

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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

Volltextzugriff (PDF)

Parent-Reported Clinical Utility of Pediatric Genomic Sequencing

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

2023

Volltextzugriff (PDF)

ClinGen and ClinVar – Enabling Genomics in Precision Medicine

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

2018

Volltextzugriff (PDF)

Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings

Clinical cancer research, 2016-08, Vol.22 (16), p.4087-4094

2016

Volltextzugriff (PDF)

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

Genome medicine, 2019-11, Vol.11 (1), p.77-77, Article 77

2019

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Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation

International journal of neonatal screening, 2023-06, Vol.9 (3), p.36

2023

Volltextzugriff (PDF)

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

American journal of human genetics, 2013-01, Vol.92 (1), p.99-106

2013

Volltextzugriff (PDF)

We screen newborns, don't we?: realizing the promise of public health genomics

Genetics in medicine, 2013-05, Vol.15 (5), p.332-334

2013

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Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making

Genome medicine, 2021-03, Vol.13 (1), p.50-50, Article 50

2021

Volltextzugriff (PDF)

The progression of the ClinGen gene clinical validity classification over time

Human mutation, 2018-11, Vol.39 (11), p.1494-1504

2018

Volltextzugriff (PDF)

Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

BMC bioinformatics, 2021-07, Vol.22 (1), p.1-374, Article 374

2021

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Treatment-resistant psychotic symptoms and early-onset dementia: A case report of the 3q29 deletion syndrome

Schizophrenia research, 2020-10, Vol.224, p.195-197

2020

Volltextzugriff (PDF)

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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Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy

Human molecular genetics, 2019-07, Vol.28 (14), p.2365-2377

2019

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A millennial myosin census

Molecular biology of the cell, 2001-04, Vol.12 (4), p.780-794

2001

Volltextzugriff (PDF)

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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Imprinted genes that regulate early mammalian growth are coexpressed in somatic stem cells

PloS one, 2011-10, Vol.6 (10), p.e26410-e26410

2011

Volltextzugriff (PDF)

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

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

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

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

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

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease

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

Parent-Reported Clinical Utility of Pediatric Genomic Sequencing

ClinGen and ClinVar – Enabling Genomics in Precision Medicine

Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

We screen newborns, don't we?: realizing the promise of public health genomics

Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making

The progression of the ClinGen gene clinical validity classification over time

Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

Treatment-resistant psychotic symptoms and early-onset dementia: A case report of the 3q29 deletion syndrome

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

Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy

A millennial myosin census

Genetics and Heart Failure: A Concise Guide for the Clinician

Imprinted genes that regulate early mammalian growth are coexpressed in somatic stem cells

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