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Genetic Testing in Neurodevelopmental Disorders

Frontiers in pediatrics, 2021-02, Vol.9, p.526779

2021

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The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants

Human mutation, 2018-11, Vol.39 (11), p.1660-1667

2018

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Expansion of the Genotypic and Phenotypic Spectrum of ASH1L -Related Syndromic Neurodevelopmental Disorder

Genes, 2024-03, Vol.15 (4), p.423

2024

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Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort

BMC medicine, 2022-06, Vol.20 (1), p.205-205, Article 205

2022

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Application of a framework to guide genetic testing communication across clinical indications

Genome medicine, 2021-04, Vol.13 (1), p.71-71, Article 71

2021

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A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System

Frontiers in genetics, 2022-05, Vol.13, p.883073

2022

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The Brain Gene Registry: a data snapshot

Journal of neurodevelopmental disorders, 2024-04, Vol.16 (1), p.17-14, Article 17

2024

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Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents

BMC pediatrics, 2020-05, Vol.20 (1), p.222-222, Article 222

2020

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Clinical validation of genomic functional screen data: Analysis of observed BRCA1 variants in an unselected population cohort

HGG advances, 2022-04, Vol.3 (2), p.100086-100086, Article 100086

2022

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Birt‐Hogg‐Dubé symptoms in Smith‐Magenis syndrome include pediatric‐onset pneumothorax

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1922-1924

2021

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Response to van Riel et al

Genetics in medicine, 2023-01, Vol.25 (1), p.161-163

2023

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Low adenoma burden in unselected patients with a pathogenic APC variant

Genetics in medicine, 2023-12, Vol.25 (12), p.100949, Article 100949

2023

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Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry

Genetics in medicine, 2021-09, Vol.23 (9), p.1738-1745

2021

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Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population

Genetics in medicine, 2022-09, Vol.24 (9), p.1857-1866

2022

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Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

Genetics in medicine, 2022-09, Vol.24 (9), p.1899-1908

2022

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Thyroidectomy Outcomes in Patients Identified With RET Pathogenic Variants Through a Population Genomic Screening Program

JAMA otolaryngology-- head & neck surgery, 2023-03, Vol.149 (3), p.195

2023

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Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties

Genetics in medicine, 2020-04, Vol.22 (4), p.785-792

2020

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Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

JAMA network open, 2018-09, Vol.1 (5), p.e182140-e182140

2018

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ClinGen's GenomeConnect registry enables patient‐centered data sharing

Human mutation, 2018-11, Vol.39 (11), p.1668-1676

2018

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TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

American journal of human genetics, 2019-12, Vol.105 (6), p.1126-1147

2019

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Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic

Genetics in medicine, 2020-08, Vol.22 (8), p.1348-1354

2020

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Clinical variants paired with phenotype: A rich resource for brain gene curation

Genetics in medicine, 2024-03, Vol.26 (3), p.101035-101035, Article 101035

2024

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Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities

Journal of genetic counseling, 2018-04, Vol.27 (2), p.470-480

2018

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Testing and Management of Iron Overload After Genetic Screening–Identified Hemochromatosis

JAMA network open, 2023-10, Vol.6 (10), p.e2338995-e2338995

2023

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Genetic Testing in Neurodevelopmental Disorders

The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants

Expansion of the Genotypic and Phenotypic Spectrum of ASH1L -Related Syndromic Neurodevelopmental Disorder

Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort

Application of a framework to guide genetic testing communication across clinical indications

A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System

The Brain Gene Registry: a data snapshot

Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents

Clinical validation of genomic functional screen data: Analysis of observed BRCA1 variants in an unselected population cohort

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

Birt‐Hogg‐Dubé symptoms in Smith‐Magenis syndrome include pediatric‐onset pneumothorax

Response to van Riel et al

Low adenoma burden in unselected patients with a pathogenic APC variant

Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry

Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

Thyroidectomy Outcomes in Patients Identified With RET Pathogenic Variants Through a Population Genomic Screening Program

Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties

Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

ClinGen's GenomeConnect registry enables patient‐centered data sharing

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic

Clinical variants paired with phenotype: A rich resource for brain gene curation

Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities

Testing and Management of Iron Overload After Genetic Screening–Identified Hemochromatosis

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