Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Patricia Arscott"'
Autor:
Adelyn Beil, Whitney Hornsby, Wendy R. Uhlmann, Rajani Aatre, Patricia Arscott, Brooke Wolford, Kim A. Eagle, Bo Yang, Jennifer McNamara, Cristen Willer, J. Scott Roberts
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)
Abstract Background Disclosure of pathogenic variants to thoracic aortic dissection biobank participants was implemented. The impact and costs, including confirmatory genetic testing in a Clinical Laboratory Improvement Amendments (CLIA)-certified la
Externí odkaz:
https://doaj.org/article/2d15f77343914f34a2aa74a6d2600579
Autor:
J. Scott Roberts, Wendy R. Uhlmann, Whitney E. Hornsby, Jamie Love-Nichols, Patricia Arscott, Cristen J. Willer
Publikováno v:
J Genet Couns
There is ongoing debate on whether and what research genetic results to return to study participants. To date, no study in this area has focused on aortopathy populations despite known genes that are clinically actionable. Participants (n = 225, 79%
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1ca5e3f99eb333c9a625433487324c8
https://doi.org/10.1002/jgc4.1341
https://doi.org/10.1002/jgc4.1341
Autor:
Cristen J. Willer, Brooke N. Wolford, Jennifer McNamara, J. Scott Roberts, Whitney E. Hornsby, Rajani Aatre, Adelyn Beil, Kim A. Eagle, Wendy R. Uhlmann, Bo Yang, Patricia Arscott
Publikováno v:
BMC Medical Genomics
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)
Background Disclosure of pathogenic variants to thoracic aortic dissection biobank participants was implemented. The impact and costs, including confirmatory genetic testing in a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e49477e529e1e1ff1fc6dd5cbee68890
https://doi.org/10.1186/s12920-021-00902-5
https://doi.org/10.1186/s12920-021-00902-5
Autor:
Kavitha Nutakki, Lisa Dellefave-Castillo, Daniel Jacoby, Esther E. Vorovich, Andrea Mazzanti, Neal K. Lakdawala, Anthony C. McCanta, Elizabeth M. McNally, Silvia G. Priori, Gregory Aubert, Eric D. Smith, Lisa D. Wilsbacher, Patricia Arscott, Adam S. Helms, Prachi P. Agarwal, Nikolaos Papoutsidakis
Publikováno v:
Circulation
Background: Mutations in desmoplakin ( DSP ), the primary force transducer between cardiac desmosomes and intermediate filaments, cause an arrhythmogenic form of cardiomyopathy that has been variably associated with arrhythmogenic right ventricular c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50e6f9974fc45d1f5ea90093c63e35c3
https://pubmed.ncbi.nlm.nih.gov/32372669
https://pubmed.ncbi.nlm.nih.gov/32372669
Autor:
Patricia Arscott, Beverly M. Yashar, Maryann Concannon, Sara Saberi, Adam S. Helms, Carol Ko, Sharlene M. Day
Publikováno v:
Genetics in Medicine. 20:69-75
PurposeHypertrophic cardiomyopathy (HCM) is considered a hereditary autosomal dominant condition, but genetic testing is positive in only half of patients. In patients with negative genetic tests, the inheritance pattern and utility of family screeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05c269f457b524a191faac8f5627688e
https://doi.org/10.1038/gim.2017.79
https://doi.org/10.1038/gim.2017.79
Autor:
Ana Morales, Amy R. Shikany, Crystal Tichnell, Sara Spencer, W. Aaron Kay, Katherine G. Spoonamore, Harikrishna Tandri, Patricia Arscott, Sara Fitzgerald-Butt, Christi Munn, Emily James, Brittney Murray, Emily Smith, Gretchen MacCarrick, Dawn C. Allain, Jessica D. Kushner
Publikováno v:
Journal of Genetic Counseling. 26:669-688
In the last decade, an increasing number of cardiac conditions have been shown to have a genetic basis. Cardiovascular genetic counseling has emerged as a subspecialty aiming to identify unaffected at-risk individuals. An important sector of this at-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7cf0d6487919d13d95220d0c0ea29eb
https://doi.org/10.1007/s10897-017-0081-z
https://doi.org/10.1007/s10897-017-0081-z
Publikováno v:
Circulation. Genomic and precision medicine. 11(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a8fb4528f938b5a9d4ea4ea2e64132b5
https://pubmed.ncbi.nlm.nih.gov/29874181
https://pubmed.ncbi.nlm.nih.gov/29874181
Publikováno v:
Circulation: Genomic and Precision Medicine. 11
A 48-year-old male proband presented with atypical chest pain. An echocardiogram revealed possible left ventricular apical noncompaction that was confirmed by cardiac magnetic resonance imaging as left ventricular noncompaction cardiomyopathy (LVNC;
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d6a0a41aba37f321075bb0bea1d43283
https://doi.org/10.1161/circgen.117.001966
https://doi.org/10.1161/circgen.117.001966
Autor:
Sara Cherny, Sarah Kreykes, Colleen Caleshu, Arya Mani, Azam Hadi, Katrina E. Kotzer, Christina Rigelsky, Joy Larsen Haidle, Katherine G. Spoonamore, Patricia Arscott, Michael J. Ackerman, S R Ommen, Emily Smith, Monica L. Marvin, Teresa M. Kruisselbrink, Kate M. Orland
Publikováno v:
Cardiology in review. 24(2)
Recent advances in genetic testing for heritable cardiac diseases have led to an increasing involvement of the genetic counselor in cardiology practice. We present a series of cases collected from a nationwide query of genetics professionals regardin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::685a92dc9274645fa3d7d7f3882114e7
https://pubmed.ncbi.nlm.nih.gov/26186385
https://pubmed.ncbi.nlm.nih.gov/26186385
Autor:
Euan A. Ashley, Carolyn Y. Ho, Michelle Michels, Aisha Furqan, Iacopo Olivotto, Francesca Girolami, Eric M. Green, Colleen Caleshu, Patricia Arscott, Allison L. Cirino, Sharlene M. Day
Publikováno v:
Circulation-cardiovascular genetics, 10(5):UNSP e001700. Lippincott Williams & Wilkins
Background— Clinically impactful differences in the interpretation of genetic test results occur between laboratories and clinicians. To improve the classification of variants, a better understanding of why discrepancies occur and how they can be r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dffffb5246bfd333d50517af2f6d0e7d
https://doi.org/10.1161/circgenetics.116.001700
https://doi.org/10.1161/circgenetics.116.001700