24 Publications
2024
Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing. Genes
. | Journal Article
2023
Effects of hypermobile Ehlers‐Danlos syndrome patients on the workflow and professional satisfaction of genetic counselors. Journal of Genetic Counseling
. | Journal Article
 
Genetic counselors and congenital heart disease: Clinical roles, genetic testing practices, and perceived genetic testing utility. Journal of Genetic Counseling
. | Journal Article
 
Novel NKX2.5 variant associated with congenital heart disease and increased risk of malignant arrhythmia and sudden cardiac death. Cardiology in the Young
. | Journal Article
2022
A descriptive investigation of clinical practice models used by cardiovascular genetic counselors in North America. Journal of Genetic Counseling
 
Comparison of willingness and preference for genetic counseling via telemedicine: before vs. during the COVID-19 pandemic. Journal of Community Genetics
2021
Assessing genetic counselors’ graduate school education and training in congenital heart defects
Journal of Genetic Counseling. | Journal Article
 
Characterization of genetic counselor practices in inpatient care settings
Magness, Emily⋅Magoulas, Pilar⋅Moscarello, Tia⋅Ma, Daria⋅Helm, Benjamin M and Mizerik, Elizabeth
Journal of Genetic Counseling, vol. 30, (no. 4), pp. 1181-1190, Aug 2021. | Journal Article
 
Genetic Evaluation of Inpatient Neonatal and Infantile Congenital Heart Defects: New Findings and Review of the Literature
Helm, Benjamin M⋅Helm, Benjamin M⋅Landis, Benjamin J⋅Landis, Benjamin J⋅Ware, Stephanie M and Ware, Stephanie M
Genes, vol. 12, (no. 8), 2021. | Journal Article
2020
An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease
Arya, Priyanka⋅Arya, Priyanka⋅Arya, Priyanka⋅Arya, Priyanka⋅Wilson, Theodore E⋅Wilson, Theodore E⋅Wilson, Theodore E⋅Wilson, Theodore E⋅Parent, John J⋅Parent, John J⋅Parent, John J⋅Parent, John J⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Breman, Amy M⋅Breman, Amy M⋅Breman, Amy M⋅Breman, Amy M⋅Helm, Benjamin M⋅Helm, Benjamin M⋅Helm, Benjamin M and Helm, Benjamin M
European Journal of Medical Genetics, vol. 63, (no. 4), pp. 103797, April 2020. | Journal Article
 
How Can Stoic Philosophy Inspire Psychosocial Genetic Counseling Practice? An Introduction and Exploration
Crawford, Christopher A and Helm, Benjamin M
Journal of Rational - Emotive & Cognitive - Behavior Therapy, vol. 38, (no. 2), pp. 155-172, Jun 2020. | Journal Article
2019
Clinical characterisation of a novel SCN5A variant associated with progressive malignant arrhythmia and dilated cardiomyopathy
Kean, Adam C⋅Kean, Adam C⋅Kean, Adam C⋅Kean, Adam C⋅Kean, Adam C⋅Helm, Benjamin M⋅Helm, Benjamin M⋅Helm, Benjamin M⋅Helm, Benjamin M⋅Helm, Benjamin M⋅Vatta, Matteo⋅Vatta, Matteo⋅Vatta, Matteo⋅Vatta, Matteo⋅Vatta, Matteo⋅Ayers, Mark D⋅Ayers, Mark D⋅Ayers, Mark D⋅Ayers, Mark D⋅Ayers, Mark D⋅Parent, John J⋅Parent, John J⋅Parent, John J⋅Parent, John J⋅Parent, John J⋅Darragh, Robert K⋅Darragh, Robert K⋅Darragh, Robert K⋅Darragh, Robert K and Darragh, Robert K
Cardiology in the young, vol. 29, (no. 10), pp. 1263, 2019-Oct. | Journal Article
 
How Can Stoic Philosophy Inspire Psychosocial Genetic Counseling Practice? An Introduction and Exploration
Crawford, Christopher A and Helm, Benjamin M
Journal of Rational-Emotive & Cognitive-Behavior Therapy, 2019-10-15. | Journal Article
2018
All Along the Watchtower: a Case of Long QT Syndrome Misdiagnosis Secondary to Genetic Testing Misinterpretation
Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Kean, Adam⋅Kean, Adam and Kean, Adam
Journal of Genetic Counseling, vol. 27, (no. 6), pp. 1522, 20181200. | Journal Article
 
Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling
Armstrong, Margaret E⋅Armstrong, Margaret E⋅Armstrong, Margaret E⋅Armstrong, Margaret E⋅Weaver, David D⋅Weaver, David D⋅Weaver, David D⋅Weaver, David D⋅Lah, Melissa D⋅Lah, Melissa D⋅Lah, Melissa D⋅Lah, Melissa D⋅Vance, Gail H⋅Vance, Gail H⋅Vance, Gail H⋅Vance, Gail H⋅Landis, Benjamin J⋅Landis, Benjamin J⋅Landis, Benjamin J⋅Landis, Benjamin J⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Helm, Benjamin M⋅Helm, Benjamin M⋅Helm, Benjamin M and Helm, Benjamin M
Molecular cytogenetics, vol. 11, (no. 1), pp. 9, 2018-00-00. | Journal Article
 
The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services
Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam and Kean, Adam
Journal of Genetic Counseling, vol. 27, (no. 3), pp. 564, 20180600. | Journal Article
2017
A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies
Reittinger, Andrew M⋅Helm, Benjamin M⋅Boles, Debra J⋅Gadi, Inder K and Schrier Vergano, Samantha A
American Journal of Medical Genetics Part A, vol. 173, (no. 9), pp. 2533, September 2017. | Journal Article
 
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome
Helm, Benjamin M⋅Helm, Benjamin M⋅Willer, Jason R⋅Willer, Jason R⋅Sadeghpour, Azita⋅Sadeghpour, Azita⋅Golzio, Christelle⋅Golzio, Christelle⋅Crouch, Eric⋅Crouch, Eric⋅Vergano, Samantha Schrier⋅Vergano, Samantha Schrier⋅Katsanis, Nicholas⋅Katsanis, Nicholas⋅Davis, Erica E and Davis, Erica E
Human genomics, vol. 11, (no. 1), pp. 16, 2017-07-19. | Journal Article
2016
Bicuspid Aortic Valve: a Review with Recommendations for Genetic Counseling
Freeze, Samantha L⋅Landis, Benjamin J⋅Ware, Stephanie M and Helm, Benjamin M
(pp. 1171-1178). Dec 2016
 
Genetic Evaluation and Use of Chromosome Microarray in Patients with Isolated Heart Defects: Benefits and Challenges of a New Model in Cardiovascular Care
Helm, Benjamin M and Freeze, Samantha L
Frontiers in cardiovascular medicine, vol. 3, pp. 19, 2016-00-00. | Journal Article
2015
Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Russell, Bianca⋅Russell, Bianca⋅Johnston, Jennifer J⋅Johnston, Jennifer J⋅Biesecker, Leslie G⋅Biesecker, Leslie G⋅Kramer, Nancy⋅Kramer, Nancy⋅Pickart, Angela⋅Pickart, Angela⋅Rhead, William⋅Rhead, William⋅Tan, Wen Hann⋅Tan, Wen‐Hann⋅Brownstein, Catherine A⋅Brownstein, Catherine A⋅Kate Clarkson, L⋅Kate Clarkson, L⋅Dobson, Amy⋅Dobson, Amy⋅Rosenberg, Avi Z⋅Rosenberg, Avi Z⋅Vergano, Samantha A. Schrier⋅Vergano, Samantha A Schrier⋅Helm, Benjamin M⋅Helm, Benjamin M⋅Harrison, Rachel E⋅Harrison, Rachel E⋅Graham, John M and Graham, John M
American Journal of Medical Genetics Part A, vol. 167, (no. 9), pp. 2131, September 2015. | Journal Article
 
Exploring the Genetic Counselor's Role in Facilitating Meaning‐Making: Rare Disease Diagnoses
Helm, Benjamin M
Journal of Genetic Counseling, vol. 24, (no. 2), pp. 212, April 2015. | Journal Article
 
Military Health Care Dilemmas and Genetic Discrimination: A Family's Experience with Whole Exome Sequencing
Helm, Benjamin M⋅Langley, Katherine⋅Spangler, Brooke B and Schrier Vergano, Samantha A
Narrative inquiry in bioethics, vol. 5, (no. 2), pp. 186, 2015-Summer. | Journal Article
2014
Three Clinical Experiences with SNP Array Results Consistent with Parental Incest: A Narrative with Lessons Learned
Helm, Benjamin⋅Helm, Benjamin⋅Langley, Katherine⋅Langley, Katherine⋅Spangler, Brooke⋅Spangler, Brooke⋅Vergano, Samantha and Vergano, Samantha
Journal of Genetic Counseling, vol. 23, (no. 4), pp. 495, 20140800. | Journal Article