Zobrazeno 1 - 10
of 19
pro vyhledávání: '"James M. Holt"'
Autor:
James M. Holt, Brandon Wilk, Camille L. Birch, Donna M. Brown, Manavalan Gajapathy, Alexander C. Moss, Nadiya Sosonkina, Melissa A. Wilk, Julie A. Anderson, Jeremy M. Harris, Jacob M. Kelly, Fariba Shaterferdosian, Angelina E. Uno-Antonison, Arthur Weborg, Undiagnosed Diseases Network, Elizabeth A. Worthey
Publikováno v:
BMC Bioinformatics, Vol 20, Iss 1, Pp 1-10 (2019)
Abstract Background When applying genomic medicine to a rare disease patient, the primary goal is to identify one or more genomic variants that may explain the patient’s phenotypes. Typically, this is done through annotation, filtering, and then pr
Externí odkaz:
https://doaj.org/article/f2c1bb0577154d0199fe50d36a271be4
Autor:
Susan M. Hiatt, James M.J. Lawlor, Lori H. Handley, Ryne C. Ramaker, Brianne B. Rogers, E. Christopher Partridge, Lori Beth Boston, Melissa Williams, Christopher B. Plott, Jerry Jenkins, David E. Gray, James M. Holt, Kevin M. Bowling, E. Martina Bebin, Jane Grimwood, Jeremy Schmutz, Gregory M. Cooper
Publikováno v:
HGG Advances, Vol 2, Iss 2, Pp 100023- (2021)
Summary: Exome and genome sequencing have proven to be effective tools for the diagnosis of neurodevelopmental disorders (NDDs), but large fractions of NDDs cannot be attributed to currently detectable genetic variation. This is likely, at least in p
Externí odkaz:
https://doaj.org/article/9e89b02fe99e4ca599239301f8118f70
Autor:
Andrew P. Morgan, John P. Didion, Anthony G. Doran, James M. Holt, Leonard McMillan, Thomas M. Keane, Fernando Pardo-Manuel de Villena
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 6, Iss 12, Pp 4211-4216 (2016)
Wild-derived mouse inbred strains are becoming increasingly popular for complex traits analysis, evolutionary studies, and systems genetics. Here, we report the whole-genome sequencing of two wild-derived mouse inbred strains, LEWES/EiJ and ZALENDE/E
Externí odkaz:
https://doaj.org/article/442e37b90d304a4ba8258bbca0866b41
Autor:
James M. Holt, Christopher T. Saunders, William J. Rowell, Zev Kronenberg, Aaron M. Wenger, Michael Eberle
BackgroundIn diploid organisms, phasing is the problem of assigning the heterozygous variants to one of two haplotypes. Reads from PacBio HiFi sequencing provide long, accurate observations that can be used as the basis for both calling and phasing v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3151eff0d21581055ebd600385ac9228
https://doi.org/10.1101/2023.05.03.539241
https://doi.org/10.1101/2023.05.03.539241
Autor:
Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, Pinar Bayrak-Toydemir, Hunter Best, Rhonda Brandon, Jillian G Buchan, Elizabeth C Chao, Elaine Chen, Jacob Clifford, Ana S Cohen, Laura K Conlin, Soma Das, Kyle W Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia B Hammer, Steven M Harrison, Kathryn E Hatchell, Lindsay Havens Dyer, Lily U Hoang, James M Holt, Vaidehi Jobanputra, Izabela D Karbassi, Hutton M Kearney, Melissa A Kelly, Jacob M Kelly, Michelle L Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S Lebo, Christian R Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria K Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen J Rasmussen, Kyle Retterer, Carol J Saunders, Elizabeth Spiteri, Christine M Stanley, Anna Szuto, Ryan J Taft, Isabelle Thiffault, Brittany C Thomas, Amanda Thomas-Wilson, Erin Thorpe, Timothy J Tidwell, Meghan C Towne, Hana Zouk
Variants of uncertain significance (VUS) are a common result of diagnostic genetic testing and can be difficult to manage with potential misinterpretation and downstream costs, including time investment by clinicians. We investigated the rate of VUS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5d80f0f4b92e956df2d629d73bc45bef
https://doi.org/10.1101/2022.09.21.22279949
https://doi.org/10.1101/2022.09.21.22279949
Autor:
Rana Hussein, Mohamed Ibrahim, Asmit Bhowmick, Philipp S. Simon, Ruchira Chatterjee, Louise Lassalle, Margaret Doyle, Isabel Bogacz, In-Sik Kim, Mun Hon Cheah, Sheraz Gul, Casper de Lichtenberg, Petko Chernev, Cindy C. Pham, Iris D. Young, Sergio Carbajo, Franklin D. Fuller, Roberto Alonso-Mori, Alex Batyuk, Kyle D. Sutherlin, Aaron S. Brewster, Robert Bolotovsky, Derek Mendez, James M. Holton, Nigel W. Moriarty, Paul D. Adams, Uwe Bergmann, Nicholas K. Sauter, Holger Dobbek, Johannes Messinger, Athina Zouni, Jan Kern, Vittal K. Yachandra, Junko Yano
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
The oxygen-evolving complex in Photosystem II (PSII) catalyzes the light-driven oxidation of water to oxygen and it is still under debate how the water reaches the active site. Here, the authors analyse time-resolved XFEL-based crystal structures of
Externí odkaz:
https://doaj.org/article/e99f27723f2f4e5b914b63bf6c2509c8
Autor:
Ronald L. Braden, Dick R. Gourley, Wallace R. Wicke, Tracy S. Portner, Bryan L. Lawrence, Greta A. Gourley, John E. Ogden, George E. Bass, Nathan Rawis, David K. Solomon, James M. Holt
Publikováno v:
Journal of the American Pharmaceutical Association (1996). 38:567-573
Objectives To: (1) develop a pharmaceutical care multicenter outcomes research project using clinical pharmacy residents and preceptors; (2) develop two research protocols to document pharmacists' impact on clinical, economic, and humanistic outcomes
Autor:
Tracy S. Portner, Elaine L. Rigolosi, George E. Bass, Ronald L. Braden, David K. Solomon, James M. Holt, Dick R. Gourley, Greta A. Gourley, Wallace R. Wicke
Publikováno v:
Journal of the American Pharmaceutical Association (1996). 38:586-597
Objective To evaluate the effects of pharmaceutical care on selected humanistic outcomes in patients with hypertension or chronic obstructive pulmonary disease (COPD). Design Clinic patients with hypertension or COPD were randomly assigned to a treat
Autor:
Ronald L. Braden, Tracy S. Portner, George E. Bass, Tammy N. Eberle, Wallace R. Wicke, Dick R. Gourley, Timothy H. Self, Bryan L. Lawrence, Greta A. Gourley, David K. Solomon, James M. Holt
Publikováno v:
Journal of the American Pharmaceutical Association (1996). 38:574-585
Objective To evaluate the impact of pharmaceutical care on selected clinical and economic outcomes in patients with hypertension chronic obstructive pulmonary disease (COPD) in ambulatory care settings. Design Clinic patients with hypertension or COP
Autor:
Zoltan Szigetvari, Stephan Hinderer, Gaetana Bufano, Sergio Palumberi, James M. Holt, Albino Quaranta, Savino DePalo
Publikováno v:
41st International Conference on Environmental Systems.
The Columbus Active Thermal Control System (ATCS) is the main thermal bus for the pressurized racks working inside the European laboratory. One of the ATCS goals is to provide proper water flow rate to each payload (P/L) by controlling actively the p