Key Publications
Arya P, Wilson TE, Parent JJ, Ware SM, Breman AM, Helm BM. 2019. 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. Doi:10.1016/j.ejmg.2019.103797.
Crawford CA, Helm BM. 2019. How Can Stoic Philosophy Inspire Psychosocial Genetic Counseling Practice? An Introduction and Exploration. Journal of Rational-Emotive & Cognitive Behavior Therapy. https://doi.org/10.1007/s10942-019-00330-6.
Kean AC, Helm BM, Vatta M, Ayers MD, Parent JJ, Darragh RK. 2019. Clinical characterization of a novel SCN5A variant associated with progressive malignant arrhythmia and dilated cardiomyopathy. Cardiol Young; Doi: 10.1017/S1047951119001860.
Helm BM, Ayers MD, Kean AC. 2018. All Along the Watchtower: a Case of Long QT Syndrome Misdiagnosis Secondary to Genetic Testing Misinterpretation. J Genet Couns; Doi:10.1007/s10897-018-0287-8.
Armstrong ME, Weaver DD, Lah MD, Vance GH, Landis BJ, Ware SM, Helm BM. 2018. Novel Phenotype of 5p13.3-q11.2 Duplication Resulting from Supernumerary Marker Chromosome 5: Implications for Management and Genetic Counseling. Molecular Cytogenetics; 11:23. Doi: 10.1186/s13039-018-0372-6.
Helm BM, Freeze SL, Spoonamore KG, Ware SM, Ayers MD, Kean AK. 2017. The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services. J Genet Couns; Doi:10.1007/s10897-017-0169-5.
Helm BM, Willer JR, Sadeghpour A, Golzio C, Crouch E, Vergano SS, Katsanis N, Davis EE. 2017. Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome. Human Genomics. Doi:10.1186/s40246-017-0111-9.
Freeze SL, Landis BJ, Ware SM, Helm BM. 2016. Bicuspid Aortic Valve: a Review with Recommendations for Genetic Counseling. J Genet Couns; doi:10.1007/s10897-016-0002-6. PMID: 27550231.
Helm BM, Freeze SL. 2016. Genetic Evaluation and Use of Chromosome Microarray in Patients with Isolated Heart Defects: Benefits and Challenges of a New Model in Cardiovascular Care. Front Cardiovasc Med; 14 June 2016. Online: http://dx.doi.org/10.3389/fcvm.2016.00019.
Helm BM. 2015. Exploring the Genetic Counselor’s Role in Facilitating Meaning-Making: Rare Disease Diagnoses. J Genet Couns; DOI: 10.1007/s10897-014-9812-6.
Titles & Appointments
- Assistant Professor of Clinical Medical & Molecular Genetics
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Education
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Research
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Professional Organizations
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Clinical Interests