Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Jennifer N. Dines"'
Autor:
Hannah Gelman, Jennifer N. Dines, Jonathan Berg, Alice H. Berger, Sarah Brnich, Fuki M. Hisama, Richard G. James, Alan F. Rubin, Jay Shendure, Brian Shirts, Douglas M. Fowler, Lea M. Starita, On behalf of the Brotman Baty Institute Mutational Scanning Working Group
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-11 (2019)
Abstract Variants of uncertain significance represent a massive challenge to medical genetics. Multiplexed functional assays, in which the functional effects of thousands of genomic variants are assessed simultaneously, are increasingly generating da
Externí odkaz:
https://doaj.org/article/3bfc5e57d58d4ef1bdcda6d327fe1aa3
Autor:
Mary K. Askren, Trevor K McAllister-Day, Natalie eKoh, Zoe eMestre, Jennifer N Dines, Benjamin A Korman, Susan J Melhorn, Daniel J Peterson, Matthew ePeverill, Xiaoyan eQin, Swati D Rane, Melissa A Reilly, Maya A Reiter, Kelly A Sambrook, Karl A Woelfer, Thomas J Grabowski, Tara M Madhyastha
Publikováno v:
Frontiers in Neuroinformatics, Vol 10 (2016)
The contribution of this paper is to describe how we can program neuroimaging workflow using Make, a software development tool designed for describing how to build executables from source files. We show that we can achieve many of the features of mor
Externí odkaz:
https://doaj.org/article/8743eba0560c4e92ad3ba16b03d3b033
Autor:
Tom Walsh, Colin C. Pritchard, Thomas P. Slavin, Douglas M. Fowler, Jennifer N. Dines, Mary Claire King, Brian H. Shirts
Publikováno v:
Genetics in Medicine
Purpose Guidelines for variant interpretation incorporate variant hotspots in critical functional domains as evidence for pathogenicity (e.g., PM1 and PP2), but do not use “coldspots,” that is, regions without essential functions that tolerate va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fc4ba0a3d709efe6efa21e92f89a6e7
http://europepmc.org/articles/PMC7200594
http://europepmc.org/articles/PMC7200594
Autor:
Alan F. Rubin, Alice H. Berger, Brian H. Shirts, Jennifer N. Dines, Richard G. James, Jonathan S. Berg, Lea M. Starita, Fuki M. Hisama, Sarah E. Brnich, Hannah Gelman, Douglas M. Fowler, Jay Shendure
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-11 (2019)
Genome Medicine
Genome Medicine
Variants of uncertain significance represent a massive challenge to medical genetics. Multiplexed functional assays, in which the functional effects of thousands of genomic variants are assessed simultaneously, are increasingly generating data that c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24c23b34920f0e365afac2aaedce3fe0
https://doaj.org/article/3bfc5e57d58d4ef1bdcda6d327fe1aa3
https://doaj.org/article/3bfc5e57d58d4ef1bdcda6d327fe1aa3
Autor:
Sudeb C Dalai, Jennifer N Dines, Thomas M Snyder, Rachel M Gittelman, Tera Eerkes, Pashmi Vaney, Sally Howard, Kipp Akers, Lynell Skewis, Anthony Monteforte, Pamela R Witte, Cristina Wolf, Hans Nesse, Megan Herndon, Jia Qadeer, Sarah Duffy, Emily Svejnoha, Caroline Taromino, Ian M Kaplan, John Alsobrook, Thomas Manley, Lance Baldo
Publikováno v:
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America. 75(12)
Background While diagnostic, therapeutic, and vaccine development in the coronavirus disease 2019 (COVID-19) pandemic has proceeded at unprecedented speed, critical gaps in our understanding of the immune response to severe acute respiratory syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a49337cc5bf1a6559ab41e9b7c5888a
https://pubmed.ncbi.nlm.nih.gov/35521791
https://pubmed.ncbi.nlm.nih.gov/35521791
Autor:
Harlan Robins, Sudeb C. Dalai, Thomas Manley, Rachel M. Gittelman, Mark J. Soloski, John N. Aucott, Ryan O. Emerson, Edward Meeds, Mitch Pesesky, Julia Greissl, Alison W. Rebman, Jonathan M. Carlson, Jennifer N. Dines, Lance Baldo, Elizabeth J. Horn, Thomas M. Snyder, Ian M. Kaplan
Lyme disease, the most common tick-borne illness in the United States, is most frequently caused by infection withBorrelia burgdorferi. Although early antibiotic treatment can prevent development of severe illness and late manifestations, diagnosis i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9afafb521f52d6df7ec990892d781845
https://doi.org/10.1101/2021.07.30.21261353
https://doi.org/10.1101/2021.07.30.21261353
Autor:
Brian H. Shirts, Tina Pesaran, Alan F. Rubin, Lea M. Starita, Marcy E. Richardson, Kelly McGoldrick, Jennifer N. Dines, Douglas M. Fowler, Shawn Fayer, Rachid Karam, Carrie Horton, Felicia Hernandez
Publikováno v:
Am J Hum Genet
Clinical interpretation of missense variants is challenging because the majority identified by genetic testing are rare and their functional effects are unknown. Consequently, most variants are of uncertain significance and cannot be used for clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::030cb3b97603c2284ae45ff8de579d92
https://pubmed.ncbi.nlm.nih.gov/34793697
https://pubmed.ncbi.nlm.nih.gov/34793697
Autor:
Jenny Thies, Jennifer N. Dines, Heather C Mefford, Edward J. Novotny, J. Lawrence Merritt, Ghayda M. Mirzaa, Xiuhua Bozarth, Qian Cong, Kimberly Foss
Publikováno v:
American Journal of Medical Genetics Part A. 176:2733-2739
CACNA1C (NM_000719.6) encodes an L-type calcium voltage-gated calcium channel (Ca(v)1.2), and pathogenic variants have been associated with two distinct clinical entities: Timothy syndrome and Brugada syndrome. Thus far, CACNA1C has not been reported
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9370a803d6dfd8f7db4b3e78e2d62c3
https://doi.org/10.1002/ajmg.a.40657
https://doi.org/10.1002/ajmg.a.40657
Autor:
Thomas Manley, Rachel M. Gittelman, Lance Baldo, Hans Nesse, Sudeb C. Dalai, Ian M. Kaplan, Caroline Taromino, John Alsobrook, Megan Herndon, Kipp Akers, Tera Eerkes, Emily Svejnoha, Sarah Duffy, Pam Witte, Jia Qadeer, Jennifer N. Dines, Thomas M. Snyder, Pashmi Vaney, Lynell Skewis, Anthony Monteforte, Cristina Wolf, Sally Howard
BackgroundWhile diagnostic, therapeutic, and vaccine development in the COVID-19 pandemic has proceeded at unprecedented speed and scale, critical gaps remain in our understanding of the immune response to SARS-CoV-2. Current diagnostic strategies, i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d2fa83119b2e6922525c69a98284343d
https://doi.org/10.1101/2021.01.06.21249345
https://doi.org/10.1101/2021.01.06.21249345
99: IDENTIFICATION AND CHARACTERIZATION OF T-CELL RECEPTOR SEQUENCES ASSOCIATED WITH CROHN'S DISEASE
Autor:
Mitchell Pesesky, Cara L. Carty, Namita Singh, Lionel Le Bourhis, Elisa Rosati, Bernd Bokemeyer, Stefan Schreiber, Siegfried Görg, Rachel M. Gittelman, Jennifer N. Dines, Ian M. Kaplan, Harus J. Zahid, Lance Baldo, Thomas M. Snyder, Harlan S. Robins, Andre Franke, Matthieu Allez
Publikováno v:
Gastroenterology. 162:S-17
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::424aa3bdfa6adc161de4f16c526b5169
https://doi.org/10.1016/s0016-5085(22)60042-8
https://doi.org/10.1016/s0016-5085(22)60042-8