Benjamin M. Helm, MS

Key Publications

Eckstein L, Helm BM, Baud R, Francomano CA, Halverson C. 2023. Effects of Hypermobile Ehlers-Danlos Syndrome Patients on the Workflow and Professional Satisfaction of Genetic Counselors. Journal of Genetic Counseling. Doi: 10.1002/jgc4.1834.

Fitzgerald-Butt SM, Schartman AF, Schmit K, Ison HE, Helm BM. Genetic Counselors and Congenital Heart Disease: Clinical Roles, Genetic Testing Practices, and Perceived Genetic Testing Utility. Journal of Genetic Counseling. Doi: 10.1002/jgc4.1821.

Helm BM, Baud R, Shopp L, Kean AC, Ayers MD. 2023. Novel NKX2.5 Variant Associated with Congenital Heart Disease and Increased Risk of Malignant Arrhythmia and Sudden Cardiac Death. Cardiology in the Young. Doi: 10.1017/S1047951123003219.

Durbin M, Fairman K, Helvaty LR, Huang M, Li M, Abreu D, Geddes G, Helm BM, Landis BJ, Mitchell D, Ware SM. 2023. Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects. Journal of Pediatrics.Doi:10.1016/j.jpeds.2023.113495.

Helm BM, Smith AM, Schmit K, Landis BJ, Vatta M, Ware SM. 2023. Disruption of FBN1 by an Alu Element Insertion: A Novel Genetic Cause of Marfan Syndrome. European Journal of Medical Genetics. Doi: 10.1016/j.ejmg.2023.104775.

Durbin MD, Helvaty LR, Li M, Border W, Fitzgerald-Butt SM, Garg V, Geddes GC, Helm BM, Lalani SR, McBride KL, McEntire A, Mitchell DK, Murali CN, Wechsler SM, Landis BJ, Ware SM. 2023. A Multicenter Cross-Sectional Study in Infants with Congenital Heart Defects Demonstrates High Diagnostic Yield of Genetic Testing but Variable Evaluation Practices. Genetics in Medicine. https://doi.org/10.1016/j.gimo.2023.100814.

Padua MB, Helm BM, Wells JR, Smith AM, Bellchambers HM, Sridhar A, Ware SM. 2023. Congenital heart defects caused by FOXJ1. Human Molecular Genetics. Doi:10.1093/hmg/ddad065.

Seither K, Helm BM, Heubi C, Swarr D, Suhrie KR. 2023. Prevalence and Severity of Sleep Apnea Peaks in Infancy in Children with Down Syndrome. Pediatrics. Doi:10.1542/peds.2022-058771.

Wand H, Kalia SS, Helm BM, Sukiel SA, Brockman D, Vriesen N, Goudar RK, Austin J, Yanes T. 2023. Clinical genetic counseling and translation considerations for polygenic scores (PGS) in personalized risk assessments: a Practice Resource from the National Society of Genetic Counselors. Doi: 10.1002/jgc4.1668.

Bucch M, Gillespie PJ, Treat K, Abreu M, Schwantes-An TL, Helm BM, Fang F, Xuei X, Mantcheva L, Suhrie KL, Graham BH, Conboy E, Vetrini F. Characterization of a Novel Deep Intronic Variant in DYNC2H1 Identified by Whole-Exome Sequencing in a Patient with a Lethal Form of a Short-Rib Thoracic Dysplasia Type III. 2022 Cold Spring Harbor Mol Case Stud; 8(7): a006254. doi: 10.1101/mcs.a006254.

Rickman AF, Fitzgerald-Butt SM, Spoonamore KG, Ware SM, Helm BM. 2022. A descriptive investigation of clinical practice models used by cardiovascular genetic counselors in North America. Journal of Genetic Counseling. Doi: 10.1002/jgc4.1643.

Landis BJ, Helm BM, Herrmann JL, Hoover MC, Durbin MD, Elmore LR, Huang M, Johansen M, Li M, Przybylowski LF, Geddes GG, Ware SM. 2022. Learning to Crawl: Determining the Role of Genetic Abnormalities on Post-Operative Outcomes in Congenital Heart Disease. Journal of the American Heart Association. Doi: https://doi.org/10.1161/JAHA.122.026369.

Allison CO, Prucka SK, Fitzgerald-Butt SM, Helm BM, Lah M, Wetherill L, Baud RE. 2022. Comparison of Willingness and Preference for Genetic Counseling via Telemedicine: Before vs. During the COVID-19 Pandemic. Journal of Community Genetics. Doi: https://doi.org/10.1007/s12687-022-00598-9.

De Boer E, et al. 2022. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein. Genetics in Medicine. Doi: https://doi.org/10.1016/j.gim.2022.06.007.

Jacobs A, Burns C, Patel P, Treat K, Helm BM, Conboy E, Vetrini F. 2022. Reanalysis of a novel variant in the IGF1R gene in a family with variable pre-and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program. Cold Spring Harbor Molecular Case Studies. Doi:10.1101/mcs.a006170.

Ahmad A, Fitzgerald-Butt SM, Ware SM, Ison HE, Elmore LR, Helm BM. 2021. Assessing Genetic Counselors’ Graduate School Education and Training in Congenital Heart Defects. Journal of Genetic Counseling; 31(3):735-745. Doi: 10.1002/jgc4.1540.

Richardson B, Fitzgerald-Butt SM, Spoonamore KG, Wetherill L, Helm BM, Breman A. 2021. Management of Amended Variant Classification Laboratory Reports by Genetic Counselors in the United States and Canada: An Exploratory Study. Journal of Genetic Counseling. Doi: 10.1002/jgc4.1514.

Margolin A, Prucka SK, Helm BM, Treat K, Halverson CE. 2021. Assessing Parental Understanding of Variant Reclassification in Pediatric Neurology and Developmental Pediatrics Clinics. Journal of Community Genetics. Doi:10.1007/s12687-021-00552-1.

Landstrom AP, Kim JJ, Gelb BD, Helm BM, Kannankeril PJ, Semsarian C, Sturm AC, Tristani-Firouzi M, Ware SM, on behalf of the American Heart Association Council on Genomic and Precision Medicine, Council on Lifelong Congenital Heart Disease and Heart Health in the Young, Council on Arteriosclerosis, Thrombosis and Vascular Biology, and Council on Lifestyle and Cardiometabolic Health. 2021. Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association. Circulation: Genomic and Precision Medicine. Doi:10.1161/HCG.0000000000000086.

Helm BM, Landis BJ, Ware SM. 2021. Genetic Evaluation of Inpatient Neonatal and Infantile Congenital Heart Defects: New Findings and Review of the Literature. Genes. 12(8):1244. Doi: 10.3390/genes12081244.

Ison HE, Griffin EL, Parrott A, Shikany AR, Meyers L, Thomas MJ, Syverson E, Demo EM, Fitzgerald KK, Fitzgerald-Butt S, Ziegler KL, Schartman AF, Stone KM, Helm BM. Genetic Counseling for Congenital Heart Disease—A National Society of Genetic Counselors Practice Resource. 2021. Journal of Genetic Counseling. 10.1002/jgc4.1498. Advance online publication. https://doi.org/10.1002/jgc4.1498.

McEntire A, Helm BM, Landis BJ, Elmore LR, Wilson T, Wetherill L, Ware SM. 2021. Psychological Distress in Response to Physical Activity Restrictions in Patients with Non-Syndromic Thoracic Aortic Aneurysm/Dissection. Journal of Community Genetics. doi: 10.1007/s12687-021-00545-0.

Magness E, Magoulas P, Moscarello T, Ma D, Helm BM, Mizerik E. 2021. Characterization of Genetic Counselor Practices in Inpatient Care Settings. Journal of Genetic Counseling. Doi: https://doi.org/10.1002/jgc4.1401.

Tramontana T, Vetrini F, Weaver DD, Conboy E, Helm BM, Torres-Martinez W. 2021. Novel combination of compound heterozygous PYCR1 gene variants in autosomal recessive cutis laxa: Implications for prognosis, management, and counseling. J Case Repo Imag; 4(2):100037. ISSN:2565-6082.

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.