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Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature

Genetics in medicine, 2019-01, Vol.21 (1), p.3-16

2019

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Conversations With the Editors: Stewardship in Genomic Medicine—Insights From Health Care Payers at the Forefront of Clinical Innovation and Partnerships

Clinical therapeutics, 2023-08, Vol.45 (8), p.690-694

2023

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Sex Education on TikTok: A Content Analysis of Themes

Health promotion practice, 2022-09, Vol.23 (5), p.739-742

2022

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Pediatric Genomic Medicine: Value, Implementation, and Access

Clinical therapeutics, 2023-08, Vol.45 (8), p.687-689

2023

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Genomic Medicine’s Critical Outcome Measure—Utility

JAMA network open, 2022-08, Vol.5 (8), p.e2225988-e2225988

Smith, Hadley Stevens

2022

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Perceptions of best practices for return of results in an international survey of psychiatric genetics researchers

European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.231-240

2021

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Research Participants' Perspectives on Precision Diagnostics for Alzheimer's Disease

Journal of Alzheimer's disease, 2024-01, Vol.97 (3), p.1261

2024

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Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics

Genetics in medicine, 2021-05, Vol.23 (5), p.950-955

2021

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Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial

JAMA pediatrics, 2021-11, Vol.175 (11), p.1132

2021

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Using the Delphi method to identify clinicians' perceived importance of pediatric exome sequencing results

Genetics in medicine, 2020-01, Vol.22 (1), p.69-76

2020

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Commentary on the development of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE)

Genetics in medicine, 2020-03, Vol.22 (3), p.665-666

2020

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Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions

Genetics in medicine, 2020-08, Vol.22 (8), p.1303-1310

2020

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Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing

Children (Basel), 2023-04, Vol.10 (5), p.774

2023

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The Other Side of the Self-Advocacy Coin: How For-Profit Companies Can Divert the Path to Justice in Rare Disease

American journal of bioethics, 2023-07, Vol.23 (7), p.88-91

2023

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Lessons learned about harmonizing survey measures for the CSER consortium

Journal of clinical and translational science, 2020-04, Vol.4 (6), p.537-546

2020

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Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories

Genetics in medicine, 2023-05, Vol.25 (5), p.100818-100818, Article 100818

2023

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A call for an integrated approach to improve efficiency, equity and sustainability in rare disease research in the United States

Nature genetics, 2022-03, Vol.54 (3), p.219-222

2022

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Measuring health-related quality of life in children with suspected genetic conditions: validation of the PedsQL proxy-report versions

Quality of life research, 2024-06, Vol.33 (6), p.1541-1553

2024

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Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas

Genetics in medicine, 2023-03, Vol.25 (3), p.100350-100350, Article 100350

2023

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Clinically Indicated Genomic Sequencing of Children in Foster Care: Legal and Ethical issues

The Journal of pediatrics, 2023-11, Vol.262, p.113612-113612, Article 113612

2023

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Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias

European journal of human genetics : EJHG, 2022-09, Vol.30 (9), p.1044-1050

2022

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Conceptualization of utility in translational clinical genomics research

American journal of human genetics, 2021-11, Vol.108 (11), p.2027-2036

2021

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Attitudes, knowledge, and risk perceptions of patients who received elective genomic testing as a clinical service

Genetics in medicine, 2024-06, p.101200, Article 101200

2024

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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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Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing

Genetics in medicine, 2024-04, p.101146, Article 101146

2024

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Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature

Conversations With the Editors: Stewardship in Genomic Medicine—Insights From Health Care Payers at the Forefront of Clinical Innovation and Partnerships

Sex Education on TikTok: A Content Analysis of Themes

Pediatric Genomic Medicine: Value, Implementation, and Access

Genomic Medicine’s Critical Outcome Measure—Utility

Perceptions of best practices for return of results in an international survey of psychiatric genetics researchers

Research Participants' Perspectives on Precision Diagnostics for Alzheimer's Disease

Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics

Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial

Using the Delphi method to identify clinicians' perceived importance of pediatric exome sequencing results

Commentary on the development of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE)

Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions

Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing

The Other Side of the Self-Advocacy Coin: How For-Profit Companies Can Divert the Path to Justice in Rare Disease

Lessons learned about harmonizing survey measures for the CSER consortium

Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories

A call for an integrated approach to improve efficiency, equity and sustainability in rare disease research in the United States

Measuring health-related quality of life in children with suspected genetic conditions: validation of the PedsQL proxy-report versions

Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas

Clinically Indicated Genomic Sequencing of Children in Foster Care: Legal and Ethical issues

Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias

Conceptualization of utility in translational clinical genomics research

Attitudes, knowledge, and risk perceptions of patients who received elective genomic testing as a clinical service

Parent-Reported Clinical Utility of Pediatric Genomic Sequencing

Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing

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