Zobrazeno 1 - 10
of 75
pro vyhledávání: '"Allison L. Cirino"'
Publikováno v:
HeartRhythm Case Reports, Vol 6, Iss 7, Pp 395-397 (2020)
Externí odkaz:
https://doaj.org/article/74f57b561133460a96b5b7bbfa0e27f1
Autor:
Kelsey M. Fusco, Robyn J. Hylind, Allison L. Cirino, Stephanie L. Harris, Steven A. Lubitz, Dominic J.R. Abrams, Neal K. Lakdawala
Publikováno v:
Journal of Genetic Counseling. 31:1273-1281
First-degree relatives of a proband with an inherited cardiac condition (ICC) are offered predictive genetic testing for the pathogenic or likely pathogenic (P/LP) cardiac gene variant (CGV) to clarify their risk for the familial condition. Relatives
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bc9fef8d6360e349b16bcc3e32db241
https://doi.org/10.1002/jgc4.1602
https://doi.org/10.1002/jgc4.1602
Autor:
Stephanie Harris, Allison L. Cirino, Christina W. Carr, Hiwot M. Tafessu, Siddharth Parmar, Jeffrey O. Greenberg, Lara E. Szent‐Gyorgyi, Roya Ghazinouri, Michelle G. Glowny, Kara McNeil, Efthalia F. Kaynor, Catherine Neumann, Christine E. Seidman, Calum A. MacRae, Carolyn Y. Ho, Neal K. Lakdawala
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
Abstract Background Individuals with hypertrophic cardiomyopathy (HCM), even when asymptomatic, are at‐risk for sudden cardiac death and stroke from arrhythmias, making it imperative to identify individuals affected by this familial disorder. Conse
Externí odkaz:
https://doaj.org/article/b800619684d7498f8da08e6eedcb416f
Publikováno v:
J Community Genet
Recent genetic research has explored how genetic variants may contribute to gender dysphoria and transgender and gender-diverse (TGD) identities. When investigating communities that have been marginalized, it is important for researchers to incorpora
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75c9d77ee0c6d104e5ea161397ba4e6a
https://doi.org/10.1007/s12687-021-00554-z
https://doi.org/10.1007/s12687-021-00554-z
Autor:
Lisa M. Dellefave-Castillo, Allison L. Cirino, Thomas E. Callis, Edward D. Esplin, John Garcia, Kathryn E. Hatchell, Britt Johnson, Ana Morales, Ellen Regalado, Susan Rojahn, Matteo Vatta, Robert L. Nussbaum, Elizabeth M. McNally
Publikováno v:
JAMA cardiology. 7(9)
Genetic testing can guide management of both cardiomyopathies and arrhythmias, but cost, yield, and uncertain results can be barriers to its use. It is unknown whether combined disease testing can improve diagnostic yield and clinical utility for pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8aa530ec4e6eab22db073d2d586dd22
https://pubmed.ncbi.nlm.nih.gov/35947367
https://pubmed.ncbi.nlm.nih.gov/35947367
Autor:
Carolyn Y. Ho, John Garcia, Tami Johnston, Joseph Maleszewski, Alexander Ing, Matteo Vatta, Ray E. Hershberger, Lucas Bronicki, James S. Ware, Arjun K. Manrai, Jodie Ingles, Cardiomyopathy Variant Curation Expert Panel, Gabriele Richard, Olga Jarinova, Lisa Mahanta, Melissa A. Kelly, Tom Winder, Birgit Funke, Christopher Semsarian, K Thomson, Matthew S. Lebo, Allison L. Cirino, Michael Fietz, Mitzi L. Murray, Christina Austin-Tse, Christian Antolik, C. Lisa Kurtz, Linnea M. Baudhuin, Ana Morales, Daniela Macaya, Megan H. Hawley
Publikováno v:
The Journal of Molecular Diagnostics : JMD
Diagnostic laboratories gather phenotypic data through requisition forms, but there is no consensus as to which data are essential for variant interpretation. The ClinGen Cardiomyopathy Variant Curation Expert Panel defined a phenotypic data set for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8320282c0dfc25e4e473d50876f07672
http://europepmc.org/articles/PMC8188618
http://europepmc.org/articles/PMC8188618
Autor:
Allison L. Cirino, Stephanie L. Harris, Andrea M. Murad, Brittany Hansen, Jennifer Malinowski, Jaime L. Natoli, Melissa A. Kelly, Susan Christian
Publikováno v:
Journal of genetic counselingREFERENCES. 31(6)
Genetic testing and genetic counseling are routinely indicated for patients with hypertrophic cardiomyopathy (HCM); however, the uptake and utility of these services is not entirely understood. This systematic review and meta-analysis summarizes the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e627b130d7e14d70d25bd8f6daa06ee
https://pubmed.ncbi.nlm.nih.gov/35799446
https://pubmed.ncbi.nlm.nih.gov/35799446
Publikováno v:
J Community Genet
Choosing a route to parenthood can be a difficult decision for individuals with Turner syndrome, who must consider the unlikely possibility of spontaneous pregnancy, the potential need for assisted reproductive technology such as in vitro fertilizati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::983455713925706dde548f9307da5853
https://europepmc.org/articles/PMC9270542/
https://europepmc.org/articles/PMC9270542/
Autor:
Yan V. Sun, Vicky A. Cameron, Allison L Cirino, Maui Hudson, Gia Mudd-Martin, Keolu Fox, Veronica Barcelona, Jacquelyn Y. Taylor
Publikováno v:
Circulation: Genomic and Precision Medicine. 14
Historically marginalized racial and ethnic groups and Indigenous peoples are burdened by significant health inequities that are compounded by their underrepresentation in genetic and genomic research. Of all genome-wide association study participant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f988bf92fd2263ba7aade3e8b54a482
https://doi.org/10.1161/hcg.0000000000000084
https://doi.org/10.1161/hcg.0000000000000084
Publikováno v:
HeartRhythm Case Reports, Vol 6, Iss 7, Pp 395-397 (2020)
HeartRhythm Case Reports
HeartRhythm Case Reports
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec2c0374e630c25eefbc847e6ab85f2b
http://www.sciencedirect.com/science/article/pii/S221402712030049X
http://www.sciencedirect.com/science/article/pii/S221402712030049X