Zobrazeno 1 - 10
of 112
pro vyhledávání: '"Amy E Roberts"'
Autor:
Courtney E. French, Nancy C. Andrews, Alan H. Beggs, Philip M. Boone, Catherine A. Brownstein, Maya Chopra, Janet Chou, Wendy K. Chung, Alissa M. D’Gama, Ryan N. Doan, Darius Ebrahimi-Fakhari, Richard D. Goldstein, Mira Irons, Christina Jacobsen, Margaret Kenna, Ted Lee, Jill A. Madden, Amar J. Majmundar, Nina Mann, Sarah U. Morton, Annapurna Poduri, Adrienne G. Randolph, Amy E. Roberts, Stephanie Roberts, Matthew G. Sampson, Diane D. Shao, Wanqing Shao, Aditi Sharma, Eliot Shearer, Akiko Shimamura, Scott B. Snapper, Siddharth Srivastava, Jay R. Thiagarajah, Mary C. Whitman, Monica H. Wojcik, Shira Rockowitz, Piotr Sliz
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-11 (2024)
Abstract Boston Children’s Hospital has established a genomic sequencing and analysis research initiative to improve clinical care for pediatric rare disease patients. Through the Children’s Rare Disease Collaborative (CRDC), the hospital offers
Externí odkaz:
https://doaj.org/article/cadfa6ccd3c944fa81c99d9a0a2dceb6
Autor:
Thanh T Hoang, Elizabeth Goldmuntz, Amy E Roberts, Wendy K Chung, Jennie K Kline, John E Deanfield, Alessandro Giardini, Adolfo Aleman, Bruce D Gelb, Meghan Mac Neal, George A Porter, Richard Kim, Martina Brueckner, Richard P Lifton, Sharon Edman, Stacy Woyciechowski, Laura E Mitchell, A J Agopian
Publikováno v:
PLoS ONE, Vol 13, Iss 1, p e0191319 (2018)
The Pediatric Cardiac Genomics Consortium (PCGC) designed the Congenital Heart Disease Genetic Network Study to provide phenotype and genotype data for a large congenital heart defects (CHDs) cohort. This article describes the PCGC cohort, overall an
Externí odkaz:
https://doaj.org/article/5c89952bd9834bd483cf3a56b9537a9f
Autor:
Kasper Lage, Kjeld Møllgård, Steven Greenway, Hiroko Wakimoto, Joshua M Gorham, Christopher T Workman, Eske Bendsen, Niclas T Hansen, Olga Rigina, Francisco S Roque, Cornelia Wiese, Vincent M Christoffels, Amy E Roberts, Leslie B Smoot, William T Pu, Patricia K Donahoe, Niels Tommerup, Søren Brunak, Christine E Seidman, Jonathan G Seidman, Lars A Larsen
Publikováno v:
Molecular Systems Biology, Vol 6, Iss 1, Pp 1-9 (2010)
Abstract Aberrant organ development is associated with a wide spectrum of disorders, from schizophrenia to congenital heart disease, but systems‐level insight into the underlying processes is very limited. Using heart morphogenesis as general model
Externí odkaz:
https://doaj.org/article/a8fa2146859749fd8dbcf313b9364bb1
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 9, Iss 11 (2020)
Background Genetic testing in pediatric primary dilated cardiomyopathy (DCM) patients has identified numerous disease‐causing variants, but few studies have evaluated genetic testing outcomes in this population in the context of patient and familia
Externí odkaz:
https://doaj.org/article/3c734fa390d240348c8a19200a417285
Publikováno v:
Anesthesia for Congenital Heart Disease. :83-115
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bcdbc98cc9b20053268632ab015235d2
https://doi.org/10.1002/9781119791690.ch6
https://doi.org/10.1002/9781119791690.ch6
Autor:
Emanuele Monda, Aaron Prosnitz, Rossella Aiello, Michele Lioncino, Gabrielle Norrish, Martina Caiazza, Fabrizio Drago, Meaghan Beattie, Marco Tartaglia, Maria Giovanna Russo, Steven D. Colan, Giulio Calcagni, Bruce D. Gelb, Juan Pablo Kaski, Amy E. Roberts, Giuseppe Limongelli
Publikováno v:
Circulation: Genomic and Precision Medicine.
BACKGROUND: We aimed to examine clinical features, and outcomes of consecutive molecularly characterized patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy. METHODS: A retrospective, longitudinal multicenter cohort
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::41db7bb9bdaba8b3f607412bacb8560a
https://doi.org/10.1161/circgen.122.003861
https://doi.org/10.1161/circgen.122.003861
Autor:
Abbas H. Zaidi, Jessica M. Yamada, David T. Miller, Kerry McEnaney, Christina Ireland, Amy E. Roberts, Kimberlee Gauvreau, Kathy J. Jenkins, Ming Hui Chen
Publikováno v:
Children, Vol 8, Iss 2, p 128 (2021)
Pulmonary vein stenosis (PVS) is a rare, frequently lethal disease with heterogeneous phenotypes and an unclear etiology. Limited studies have reported associations between PVS and congenital heart disease (CHD), chronic lung disease (CLD), and/or pr
Externí odkaz:
https://doaj.org/article/d6cf53b466b74d86a2280f9195607cc3
Autor:
Bruce D. Gelb, Michele Lioncino, Fabrizio Drago, Giulio Calcagni, Amy E. Roberts, Marco Tartaglia, Bruno Marino, Carolina Putotto, Giuseppe Limongelli, Maria Cristina Digilio, Federica Verrillo, Maria Giovanna Russo, Paolo Calabrò, Emanuele Monda, Elisabetta Moscarella
Publikováno v:
Heart Failure Clinics. 18:19-29
RASopathies are multisystemic disorders caused by germline mutations in genes linked to the RAS/mitogen-activated protein kinase pathway. Diagnosis of RASopathy can be triggered by clinical clues ("red flags") which may direct the clinician toward a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b792f8c7a20b8a4b9cdeb37119e560c
https://doi.org/10.1016/j.hfc.2021.07.004
https://doi.org/10.1016/j.hfc.2021.07.004
Autor:
Emily L. Griffin, Shannon N. Nees, Sarah U. Morton, Julia Wynn, Nihir Patel, Vaidehi Jobanputra, Scott Robinson, Stephanie M. Kochav, Alice Tao, Carli Andrews, Nancy Cross, Judith Geva, Kristen Lanzilotta, Alyssa Ritter, Eileen Taillie, Alexandra Thompson, Chris Meyer, Rachel Akers, Eileen C. King, James F Cnota, Richard W. Kim, George A. Porter, Martina Brueckner, Christine E. Seidman, Yufeng Shen, Bruce D. Gelb, Elizabeth Goldmuntz, Jane W. Newburger, Amy E. Roberts, Wendy K. Chung
Background: Congenital heart disease (CHD) is the most common major congenital anomaly and causes significant morbidity and mortality. Epidemiologic evidence supports a role of genetics in the development of CHD. Genetic diagnoses can inform prognosi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36bc045da5c349f187341c0dc1c81070
Autor:
Amy E. Roberts, Gerard O’Shea
Publikováno v:
Religions; Volume 13; Issue 12; Pages: 1230
The Catholic Church has a long history of conducting schools as part of its mission to evangelize. This paper will contend that in order for teachers to implement the evangelistic mission of Catholic schools, they themselves need an integral formatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ba4bb30404f24dd87d3835e97e51af8