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Sleep Apnea in Children With Down Syndrome

Pediatrics (Evanston), 2023-03, Vol.151 (3), p.1

2023

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Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing

Genes, 2024-04, Vol.15 (4), p.505

2024

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Congenital heart defects caused by FOXJ1

Human molecular genetics, 2023-07, Vol.32 (14), p.2335-2346

2023

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Genetic Evaluation of Inpatient Neonatal and Infantile Congenital Heart Defects: New Findings and Review of the Literature

Genes, 2021-08, Vol.12 (8), p.1244

2021

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Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects

The Journal of pediatrics, 2023-09, Vol.260, p.113495-113495, Article 113495

2023

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Exploring the Genetic Counselor’s Role in Facilitating Meaning-Making: Rare Disease Diagnoses

Journal of genetic counseling, 2015-04, Vol.24 (2), p.205-212

Helm, Benjamin M.

2015

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Effects of hypermobile Ehlers‐Danlos syndrome patients on the workflow and professional satisfaction of genetic counselors

Journal of genetic counseling, 2023-11

2023

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Characterization of genetic counselor practices in inpatient care settings

Journal of genetic counseling, 2021-08, Vol.30 (4), p.1181-1190

2021

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Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association

Circulation. Genomic and precision medicine, 2021-10, Vol.14 (5), p.e000086-e000086

2021

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Disruption of FBN1 by an Alu element insertion: A novel genetic cause of Marfan syndrome

European journal of medical genetics, 2023-07, Vol.66 (7), p.104775-104775, Article 104775

2023

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Novel NKX2.5 variant associated with congenital heart disease and increased risk of malignant arrhythmia and sudden cardiac death

Cardiology in the young, 2024-03, Vol.34 (3), p.654-658

2024

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Bicuspid Aortic Valve: a Review with Recommendations for Genetic Counseling

Journal of Genetic Counseling, 2016-12, Vol.25 (6), p.1171-1178

2016

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Learning to Crawl: Determining the Role of Genetic Abnormalities on Postoperative Outcomes in Congenital Heart Disease

Journal of the American Heart Association, 2022-10, Vol.11 (19), p.e026369-e026369

2022

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Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

Human genomics, 2017-07, Vol.11 (1), p.16-16, Article 16

2017

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Clinical genetic counseling and translation considerations for polygenic scores in personalized risk assessments: A Practice Resource from the National Society of Genetic Counselors

Journal of genetic counseling, 2023-06, Vol.32 (3), p.558-575

2023

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A descriptive investigation of clinical practice models used by cardiovascular genetic counselors in North America

Journal of genetic counseling, 2023-04, Vol.32 (2), p.362-375

2023

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Genetic counselors and congenital heart disease: Clinical roles, genetic testing practices, and perceived genetic testing utility

Journal of genetic counseling, 2023-10

2023

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How Can Stoic Philosophy Inspire Psychosocial Genetic Counseling Practice? An Introduction and Exploration

Journal of rational-emotive and cognitive-behavior therapy, 2020-06, Vol.38 (2), p.155-172

2020

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Management of amended variant classification laboratory reports by genetic counselors in the United States and Canada: An exploratory study

Journal of genetic counseling, 2022-04, Vol.31 (2), p.479-488

2022

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Genetic counseling for congenital heart disease – Practice resource of the National Society of Genetic Counselors

Journal of genetic counseling, 2022-02, Vol.31 (1), p.9-33

2022

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All Along the Watchtower: a Case of Long QT Syndrome Misdiagnosis Secondary to Genetic Testing Misinterpretation

Journal of genetic counseling, 2018-12, Vol.27 (6), p.1515-1522

2018

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Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program

Cold Spring Harbor molecular case studies, 2022-02, Vol.8 (2), p.1

2022

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Early ascertainment of genetic diagnoses clarifies impact on medium-term survival following neonatal congenital heart surgery

The Journal of clinical investigation, 2024-07

2024

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An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease

European journal of medical genetics, 2020-04, Vol.63 (4), p.103797, Article 103797

2020

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Assessing genetic counselors’ graduate school education and training in congenital heart defects

Journal of genetic counseling, 2022-06, Vol.31 (3), p.735-745

2022

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Sleep Apnea in Children With Down Syndrome

Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing

Congenital heart defects caused by FOXJ1

Genetic Evaluation of Inpatient Neonatal and Infantile Congenital Heart Defects: New Findings and Review of the Literature

Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects

Exploring the Genetic Counselor’s Role in Facilitating Meaning-Making: Rare Disease Diagnoses

Effects of hypermobile Ehlers‐Danlos syndrome patients on the workflow and professional satisfaction of genetic counselors

Characterization of genetic counselor practices in inpatient care settings

Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association

Disruption of FBN1 by an Alu element insertion: A novel genetic cause of Marfan syndrome

Novel NKX2.5 variant associated with congenital heart disease and increased risk of malignant arrhythmia and sudden cardiac death

Bicuspid Aortic Valve: a Review with Recommendations for Genetic Counseling

Learning to Crawl: Determining the Role of Genetic Abnormalities on Postoperative Outcomes in Congenital Heart Disease

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

Clinical genetic counseling and translation considerations for polygenic scores in personalized risk assessments: A Practice Resource from the National Society of Genetic Counselors

A descriptive investigation of clinical practice models used by cardiovascular genetic counselors in North America

Genetic counselors and congenital heart disease: Clinical roles, genetic testing practices, and perceived genetic testing utility

How Can Stoic Philosophy Inspire Psychosocial Genetic Counseling Practice? An Introduction and Exploration

Management of amended variant classification laboratory reports by genetic counselors in the United States and Canada: An exploratory study

Genetic counseling for congenital heart disease – Practice resource of the National Society of Genetic Counselors

All Along the Watchtower: a Case of Long QT Syndrome Misdiagnosis Secondary to Genetic Testing Misinterpretation

Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program

Early ascertainment of genetic diagnoses clarifies impact on medium-term survival following neonatal congenital heart surgery

An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease

Assessing genetic counselors’ graduate school education and training in congenital heart defects

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