Congenital heart defects caused by FOXJ1
Padua, Maria B, Helm, Benjamin M, Wells, John R, Smith, Amanda M, Bellchambers, Helen M, Sridhar, Arthi, Ware, Stephanie M
Published in Human molecular genetics (04.07.2023)
Published in Human molecular genetics (04.07.2023)
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Journal Article
Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association
Landstrom, Andrew P, Kim, Jeffrey J, Gelb, Bruce D, Helm, Benjamin M, Kannankeril, Prince J, Semsarian, Christopher, Sturm, Amy C, Tristani-Firouzi, Martin, Ware, Stephanie M
Published in Circulation. Genomic and precision medicine (01.10.2021)
Published in Circulation. Genomic and precision medicine (01.10.2021)
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Journal Article
Learning to Crawl: Determining the Role of Genetic Abnormalities on Postoperative Outcomes in Congenital Heart Disease
Landis, Benjamin J, Helm, Benjamin M, Herrmann, Jeremy L, Hoover, Madeline C, Durbin, Matthew D, Elmore, Lindsey R, Huang, Manyan, Johansen, Michael, Li, Ming, Przybylowski, Leon F, Geddes, Gabrielle C, Ware, Stephanie M
Published in Journal of the American Heart Association (04.10.2022)
Published in Journal of the American Heart Association (04.10.2022)
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Journal Article
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome
Helm, Benjamin M, Willer, Jason R, Sadeghpour, Azita, Golzio, Christelle, Crouch, Eric, Vergano, Samantha Schrier, Katsanis, Nicholas, Davis, Erica E
Published in Human genomics (19.07.2017)
Published in Human genomics (19.07.2017)
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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, Weaver, David D, Lah, Melissa D, Vance, Gail H, Landis, Benjamin J, Ware, Stephanie M, Helm, Benjamin M
Published in Molecular cytogenetics (27.03.2018)
Published in Molecular cytogenetics (27.03.2018)
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Journal Article
Sleep Apnea in Children With Down Syndrome
Seither, Katelyn, Helm, Benjamin M, Heubi, Christine, Swarr, Daniel, Suhrie, Kristen R
Published in Pediatrics (Evanston) (01.03.2023)
Published in Pediatrics (Evanston) (01.03.2023)
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Journal Article
Characterization of genetic counselor practices in inpatient care settings
Magness, Emily, Magoulas, Pilar, Moscarello, Tia, Ma, Daria, Helm, Benjamin M., Mizerik, Elizabeth
Published in Journal of genetic counseling (01.08.2021)
Published in Journal of genetic counseling (01.08.2021)
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Journal Article
Early ascertainment of genetic diagnoses clarifies impact on medium-term survival following neonatal congenital heart surgery
Landis, Benjamin J., Helm, Benjamin M., Durbin, Matthew D., Helvaty, Lindsey R., Herrmann, Jeremy L., Johansen, Michael, Geddes, Gabrielle C., Ware, Stephanie M.
Published in The Journal of clinical investigation (30.07.2024)
Published in The Journal of clinical investigation (30.07.2024)
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Journal Article
Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects
Durbin, Matthew D., Fairman, Korre, Helvaty, Lindsey R., Huang, Manyan, Li, Ming, Abreu, Daniel, Geddes, Gabrielle C., Helm, Benjamin M., Landis, Benjamin J., McEntire, Alexis, Mitchell, Dana K., Ware, Stephanie M.
Published in The Journal of pediatrics (01.09.2023)
Published in The Journal of pediatrics (01.09.2023)
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Journal Article
Clinical genetic counseling and translation considerations for polygenic scores in personalized risk assessments: A Practice Resource from the National Society of Genetic Counselors
Wand, Hannah, Kalia, Sarah S., Helm, Benjamin M., Suckiel, Sabrina A., Brockman, Deanna, Vriesen, Natalie, Goudar, Ranjit K., Austin, Jehannine, Yanes, Tatiane
Published in Journal of genetic counseling (01.06.2023)
Published in Journal of genetic counseling (01.06.2023)
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Journal Article
Bicuspid Aortic Valve: a Review with Recommendations for Genetic Counseling
Freeze, Samantha L., Landis, Benjamin J., Ware, Stephanie M., Helm, Benjamin M.
Published in Journal of Genetic Counseling (01.12.2016)
Published in Journal of Genetic Counseling (01.12.2016)
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Journal Article
Book Review
A descriptive investigation of clinical practice models used by cardiovascular genetic counselors in North America
Rickman, Allison F., Fitzgerald‐Butt, Sara M., Spoonamore, Katherine G., Ware, Stephanie M., Helm, Benjamin M.
Published in Journal of genetic counseling (01.04.2023)
Published in Journal of genetic counseling (01.04.2023)
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Journal Article
Genetic counselors and congenital heart disease: Clinical roles, genetic testing practices, and perceived genetic testing utility
Fitzgerald‐Butt, Sara M., Schartman, Allison F., Schmit, Kelly, Ison, Hannah E., Helm, Benjamin M.
Published in Journal of genetic counseling (23.10.2023)
Published in Journal of genetic counseling (23.10.2023)
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Journal Article