Publications by authors named "Benjamin Helm"

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Experiences of people with elevated lipoprotein(a) and the impact on family and child screening.
Gabrielle Eversole, Sara M Fitzgerald-Butt, Colin Halverson, Julie M Clary, Benjamin M Helm

J Clin Lipidol· December 2025

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Missed and Misdiagnosed: Precision Medicine Approaches to Screening for Familial Hypercholesterolemia and Lipoprotein(a).
Benjamin M Helm, Victor Huerta, Julie M Clary

JACC Adv· December 2025

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Cardiovascular genetic counseling is associated with improved patient-reported outcomes across clinical indications and settings.
Brittney Murray, Catherine Gordon, Susan Christian, Tara Dzwiniel, Crystal Tichnell, Benjamin M Helm

medRxiv· October 2025

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Factors influencing retention of patient-facing genetic counselors: Role of generational age and work environment.
Jade R Frye, Leah Wetherill, Stephanie A Cohen, Sara M Fitzgerald-Butt, Benjamin M Helm

J Genet Couns· August 2025

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Standardized Criteria for Genomic Testing in the NICU.
Benjamin M Helm, Matthew Hays, Kayleigh A Swaggart, Caroline B Parker, Victoria Thomas

Pediatrics· July 2025

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Research methods in genetic counseling: Statistical approaches and resources.
Benjamin M Helm, Leah Wetherill

J Genet Couns· June 2025

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Evaluating first-line genetic testing strategies for inpatients with congenital heart defects.
Al Lindstrom, Amy Breman, Sara Fitzgerald-Butt, Lindsey R Helvaty, Stephanie M Ware, Benjamin M Helm

J Genet Couns· June 2025

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Navigating variants of uncertain significance in genetic dyslipidemia: how to assess and counsel patients.
Hannah E Ison, Benjamin Helm, Gabriel Kringlen, Paul Crawford

Curr Opin Lipidol· April 2025

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Dysmorphology-Based Prediction Model for Genetic Disorders in Infants With Congenital Heart Disease.
Benjamin M Helm, Leah Wetherill, Benjamin J Landis, Stephanie M Ware

Circ Genom Precis Med· April 2025

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Effects of hypermobile Ehlers-Danlos syndrome patients on the workflow and professional satisfaction of genetic counselors.
Lauren Eckstein, Benjamin M Helm, Rebecca Baud, Clair A Francomano, Colin Halverson

J Genet Couns· December 2024

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Performance of Dysmorphology-Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing.
Benjamin M Helm, Lindsey R Helvaty, Erin Conboy, Gabrielle C Geddes, Brett H Graham

Mol Genet Genomic Med· November 2024

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Genetic counselors and congenital heart disease: Clinical roles, genetic testing practices, and perceived genetic testing utility.
Sara M Fitzgerald-Butt, Allison F Schartman, Kelly Schmit, Hannah E Ison, Benjamin M Helm

J Genet Couns· October 2024

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Early ascertainment of genetic diagnoses clarifies impact on medium-term survival following neonatal congenital heart surgery.
Benjamin J Landis, Benjamin M Helm, Matthew D Durbin, Lindsey R Helvaty, Jeremy L Herrmann

J Clin Invest· July 2024

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Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Morad Ansari, Kamli N W Faour, Akiko Shimamura, Graeme Grimes, Emeline M Kao, Benjamin M Helm

HGG Adv· April 2024

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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.
Benjamin M Helm, Stephanie M Ware

Genes (Basel)· April 2024

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Novel variant associated with congenital heart disease and increased risk of malignant arrhythmia and sudden cardiac death.
Benjamin M Helm, Rebecca Baud, Laura Shopp, Adam C Kean, Mark D Ayers

Cardiol Young· March 2024

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Rapid Genome Sequencing Shows Diagnostic Utility In Infants With Congenital Heart Defects.
Matthew D Durbin, Lindsey R Helvaty, Alyx Posorske, Samuel Zhang, Manyan Huang, Benjamin M Helm

Res Sq· March 2024

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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Elke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, Juliet E Hampstead, Alexander J M Dingemans, Benjamin M Helm

Genet Med· November 2023

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Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects.
Matthew D Durbin, Korre Fairman, Lindsey R Helvaty, Manyan Huang, Ming Li, Benjamin M Helm

J Pediatr· September 2023

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Heterozygous loss-of-function variants are associated with variable and incompletely penetrant growth and developmental features.
Morad Ansari, Kamli N W Faour, Akiko Shimamura, Graeme Grimes, Emeline M Kao, Benjamin M Helm

medRxiv· September 2023

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Congenital heart defects caused by FOXJ1.
Maria B Padua, Benjamin M Helm, John R Wells, Amanda M Smith, Helen M Bellchambers

Hum Mol Genet· July 2023

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Disruption of FBN1 by an Alu element insertion: A novel genetic cause of Marfan syndrome.
Benjamin M Helm, Amanda M Smith, Kelly Schmit, Benjamin J Landis, Matteo Vatta

Eur J Med Genet· July 2023

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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.
Hannah Wand, Sarah S Kalia, Benjamin M Helm, Sabrina A Suckiel, Deanna Brockman

J Genet Couns· June 2023

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A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices.
Matthew D Durbin, Lindsey R Helvaty, Ming Li, William Border, Sara Fitzgerald-Butt, Benjamin M Helm

Genet Med Open· April 2023

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Sleep Apnea in Children With Down Syndrome.
Katelyn Seither, Benjamin M Helm, Christine Heubi, Daniel Swarr, Kristen R Suhrie

Pediatrics· March 2023

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