Výsledky vyhledávání - "Sara FitzGerald"

Akademický článek

A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices

Autor: Matthew D. Durbin, Lindsey R. Helvaty, Ming Li, William Border, Sara Fitzgerald-Butt, Vidu Garg, Gabrielle C. Geddes, Benjamin M. Helm, Seema R. Lalani, Kim L. McBride, Alexis McEntire, Dana K. Mitchell, Chaya N. Murali, Stephanie B. Wechsler, Benjamin J. Landis, Stephanie M. Ware

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100814- (2023)

Purpose: For patients with congenital heart disease (CHD), the most common birth defect, genetic evaluation is not universally accepted, and current practices are anecdotal. Here, we analyzed genetic evaluation practices across centers, determined di

Externí odkaz: https://doaj.org/article/6e7126e01ae843229c6b557e44a82b1c

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Akademický článek

Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.

Autor: Sathiya N Manivannan, Sihem Darouich, Aida Masmoudi, David Gordon, Gloria Zender, Zhe Han, Sara Fitzgerald-Butt, Peter White, Kim L McBride, Maher Kharrat, Vidu Garg

Publikováno v: PLoS Genetics, Vol 16, Iss 5, p e1008639 (2020)

Hypertrophic cardiomyopathy (HCM) is characterized by thickening of the ventricular muscle without dilation and is often associated with dominant pathogenic variants in cardiac sarcomeric protein genes. Here, we report a family with two infants diagn

Externí odkaz: https://doaj.org/article/8fb4c19e9fdf4890a7e2bec4a2102654

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Effect of manganese substitution of ferrite nanoparticles on particle grain structure

Autor: Zichun Yan, Anish Chaluvadi, Sara FitzGerald, Sarah Spence, Christopher Bleyer, Jiazhou Zhu, Thomas M. Crawford, Rachel B. Getman, John Watt, Dale L. Huber, O. Thompson Mefford

Publikováno v: Nanoscale Advances. 4:3957-3965

Manganese substitution induces crystallite shrinkage and loss of saturation magnetization for the manganese ferrite nanoparticles synthesized by thermal decomposition.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a5c234405ec211d7a5f74c79c615750
https://doi.org/10.1039/d2na00200k

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Management of amended variant classification laboratory reports by genetic counselors in the United States and Canada: An exploratory study

Autor: Brooke Richardson, Amy M. Breman, Leah Wetherill, Benjamin M. Helm, Sara Fitzgerald-Butt, Katherine G. Spoonamore

Publikováno v: Journal of Genetic Counseling. 31:479-488

For the past two decades, the guidelines put forth by the American College of Medical Genetics and Genomics (ACMG) detailing providers' clinical responsibility to recontact patients have remained mostly unchanged, despite evolving variant interpretat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d500f1f69b019657df9d9e364ff3e831
https://doi.org/10.1002/jgc4.1514

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Genetic counseling for congenital heart disease – Practice resource of the National Society of Genetic Counselors

Autor: Emily Leann Griffin, Sara Fitzgerald-Butt, Katie L. Ziegler, Matthew J Thomas, Allison F. Schartman, Benjamin M. Helm, Erin Syverson, Hannah E. Ison, Kristyne M. Stone, Erin M. Demo, Amy R. Shikany, Ashley Parrott, Lindsay Meyers, Kristi K Fitzgerald

Publikováno v: Journal of Genetic Counseling. 31:9-33

Congenital heart disease (CHD) is an indication which spans multiple specialties across various genetic counseling practices. This practice resource aims to provide guidance on key considerations when approaching counseling for this particular indica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e04cf77f834a634d100bb4c0ebecddbf
https://doi.org/10.1002/jgc4.1498

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