Zobrazeno 1 - 10
of 583
pro vyhledávání: '"Melissa A, Kelly"'
Autor:
Jianhong Hu, Viktoriya Korchina, Hana Zouk, Maegan V. Harden, David Murdock, Alyssa Macbeth, Steven M. Harrison, Niall Lennon, Christie Kovar, Adithya Balasubramanian, Lan Zhang, Gauthami Chandanavelli, Divya Pasham, Robb Rowley, Ken Wiley, Maureen E. Smith, Adam Gordon, Gail P. Jarvik, Patrick Sleiman, Melissa A. Kelly, Harris T. Bland, Mullai Murugan, Eric Venner, Eric Boerwinkle, the eMERGE III consortium, Cynthia Prows, Lisa Mahanta, Heidi L. Rehm, Richard A. Gibbs, Donna M. Muzny
Publikováno v:
BMC Research Notes, Vol 17, Iss 1, Pp 1-8 (2024)
Abstract Objective Data from DNA genotyping via a 96-SNP panel in a study of 25,015 clinical samples were utilized for quality control and tracking of sample identity in a clinical sequencing network. The study aimed to demonstrate the value of both
Externí odkaz:
https://doaj.org/article/3d38e5b62ab94770bb1d2b0b1ce48ef7
Autor:
Bardsley, Mary Ellen
Publikováno v:
Teaching Children Mathematics, 2001 Oct 01. 8(2), 126-127.
Externí odkaz:
https://www.jstor.org/stable/41197726
Autor:
Kevin M. Bowling, Michelle L. Thompson, Melissa A. Kelly, Sarah Scollon, Anne M. Slavotinek, Bradford C. Powell, Brian M. Kirmse, Laura G. Hendon, Kyle B. Brothers, Bruce R. Korf, Gregory M. Cooper, John M. Greally, Anna C. E. Hurst
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-17 (2022)
Abstract Background The uptake of exome/genome sequencing has introduced unexpected testing results (incidental findings) that have become a major challenge for both testing laboratories and providers. While the American College of Medical Genetics a
Externí odkaz:
https://doaj.org/article/e4cc7a2958a74910939d83b6cfc1eb15
Autor:
Samuel S. Gidding, H. Lester Kirchner, Andrew Brangan, William Howard, Melissa A. Kelly, Kelly D. Myers, Kelly M. Morgan, Matthew T. Oetjens, Timothy C. Shuey, David Staszak, Natasha T. Strande, Nicole L. Walters, Kristen D. Yu, Katherine A. Wilemon, Marc S. Williams, Amy C. Sturm, Laney K. Jones
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 12, Iss 13 (2023)
Background Data mining of electronic health records to identify patients suspected of familial hypercholesterolemia (FH) has been limited by absence of both phenotypic and genomic data in the same cohort. Methods and Results Using the Geisinger MyCod
Externí odkaz:
https://doaj.org/article/05b8f792bfdd43bc923992cd079ffc47
Autor:
Juliann M. Savatt, Nicole M. Ortiz, Gretchen M. Thone, Whitney S. McDonald, Melissa A. Kelly, Alexander S. F. Berry, Madiha M. Alvi, Miranda L. G. Hallquist, Jennifer Malinowski, Nicholas C. Purdy, Marc S. Williams, Amy C. Sturm, Adam H. Buchanan
Publikováno v:
BMC Medicine, Vol 20, Iss 1, Pp 1-15 (2022)
Abstract Background In current care, patients’ personal and self-reported family histories are primarily used to determine whether genetic testing for hereditary endocrine tumor syndromes (ETS) is indicated. Population genomic screening for other c
Externí odkaz:
https://doaj.org/article/b1bdba2497124f9699e8abe03f4b831d
Publikováno v:
Antioxidants, Vol 12, Iss 11, p 1961 (2023)
Background and Aims: we previously reported in studies on organoid-cultured bovine pulmonary arteries that pulmonary hypertension (PH) conditions of exposure to hypoxia or endothelin-1 caused a loss of a cartilage oligomeric matrix protein (COMP) sta
Externí odkaz:
https://doaj.org/article/6a6342d1429047bdac521169656188db
Publikováno v:
Cardiovascular Week; 2024, p464-464, 1p
Autor:
Juliann M. Savatt, Jennifer K. Wagner, Steven Joffe, Alanna Kulchak Rahm, Marc S. Williams, Angela R. Bradbury, F. Daniel Davis, Julie Hergenrather, Yirui Hu, Melissa A. Kelly, H. Lester Kirchner, Michelle N. Meyer, Jessica Mozersky, Sean M. O’Dell, Josie Pervola, Andrea Seeley, Amy C. Sturm, Adam H. Buchanan
Publikováno v:
BMC Pediatrics, Vol 20, Iss 1, Pp 1-13 (2020)
Abstract Background Exome and genome sequencing are routinely used in clinical care and research. These technologies allow for the detection of pathogenic/likely pathogenic variants in clinically actionable genes. However, fueled in part by a lack of
Externí odkaz:
https://doaj.org/article/1cc3526caded4983bbca8ff49eca3c17
Autor:
Stephanie Harris, Susan Christian, Allison Cirino, Brittany Hansen, Andrea M Murad, Jaime L Natoli, Jennifer Malinowski, Melissa A Kelly
Publikováno v:
Open Heart, Vol 9, Iss 1 (2022)
Externí odkaz:
https://doaj.org/article/cc4f17ac1f2d4e74ab5c0958428e7eb4
Autor:
Sarah Phillips, Rachel Watt, Thomas Atkinson, Shelina Rajan, Antonietta Hayhoe, George M Savva, Michael Hornberger, Ben J L Burton, Janak Saada, Melissa Cambell-Kelly, Simon Rushbrook, Simon R Carding
Publikováno v:
PLoS ONE, Vol 17, Iss 11, p e0276118 (2022)
BackgroundAdvances in medicine and public health mean that people are living longer; however, a significant proportion of that increased lifespan is spent in a prolonged state of declining health and wellbeing which places increasing pressure on medi
Externí odkaz:
https://doaj.org/article/6824d298de384468bc8d11fa428fce87