20447-Helm, Benjamin
Faculty

Benjamin M. Helm

Assistant Professor of Clinical Medical & Molecular Genetics

Phone 317-274-3901
Address
IB-145
MMGE
IN
Indianapolis, IN

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
  • Research

    Cardiovascular Genetics, Congenital Heart Defects, Heritable Cardiac Arrhythmias, Rare Diseases, Genetic Counseling, Psychosocial Adaptation to Genetic Risk

  • Professional Organizations
    American Heart Association
    Heart Rhythm Society
    National Society of Genetic Counselors
  • Clinical Interests

    Cardiovascular genetics, heritable cardiovascular diseases, long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), congenital heart defects, cardiomyopathies, familial hypercholesterolemia, sudden cardiac death, family history of heritable cardiovascular diseases

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