Zobrazeno 1 - 10
of 385
pro vyhledávání: '"James, M.J."'
Autor:
Felker, Stephanie A., Lawlor, James M.J., Hiatt, Susan M., Thompson, Michelle L., Latner, Donald R., Finnila, Candice R., Bowling, Kevin M., Bonnstetter, Zachary T., Bonini, Katherine E., Kelly, Nicole R., Kelley, Whitley V., Hurst, Anna C.E., Rashid, Salman, Kelly, Melissa A., Nakouzi, Ghunwa, Hendon, Laura G., Bebin, E. Martina, Kenny, Eimear E., Cooper, Gregory M.
Publikováno v:
In Genetics in Medicine August 2023 25(8)
Autor:
Kathleen D. Muenzen, Laura M. Amendola, Tia L. Kauffman, Kathleen F. Mittendorf, Jeannette T. Bensen, Flavia Chen, Richard Green, Bradford C. Powell, Mark Kvale, Frank Angelo, Laura Farnan, Stephanie M. Fullerton, Jill O. Robinson, Tianran Li, Priyanka Murali, James M.J. Lawlor, Jeffrey Ou, Lucia A. Hindorff, Gail P. Jarvik, David R. Crosslin
Publikováno v:
HGG Advances, Vol 3, Iss 3, Pp 100120- (2022)
Summary: Integrating data across heterogeneous research environments is a key challenge in multi-site, collaborative research projects. While it is important to allow for natural variation in data collection protocols across research sites, it is als
Externí odkaz:
https://doaj.org/article/676518aaf4d54c8f9b075c0181c31569
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:
Tobias Janowitz, Simon Tavaré, Hannah V. Meyer, Andy G. Lynch, Michael A. Bookman, Cameron T. Whitley, Harry Potts, James M.J. Weaver, Nicholas J. Bird, Eva Gablenz, Taehoon Ha, Hassal Lee, Daniel Giglio, Claire M. Connell, Thomas R. Flint, Edward H. Williams
CamGFR v2 App Screenshot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5743f9e0f85ba1afada90a9cde4393f7
https://doi.org/10.1158/1078-0432.22479347
https://doi.org/10.1158/1078-0432.22479347
Autor:
Tobias Janowitz, Simon Tavaré, Hannah V. Meyer, Andy G. Lynch, Michael A. Bookman, Cameron T. Whitley, Harry Potts, James M.J. Weaver, Nicholas J. Bird, Eva Gablenz, Taehoon Ha, Hassal Lee, Daniel Giglio, Claire M. Connell, Thomas R. Flint, Edward H. Williams
Excel file containing Tables S7, S9-15, S18
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a39aaebb4d9ed9323d779e06cfc98f2
https://doi.org/10.1158/1078-0432.22479344.v1
https://doi.org/10.1158/1078-0432.22479344.v1
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Kevin M. Bowling, Michelle L. Thompson, Candice R. Finnila, Susan M. Hiatt, Donald R. Latner, Michelle D. Amaral, James M.J. Lawlor, Kelly M. East, Meagan E. Cochran, Veronica Greve, Whitley V. Kelley, David E. Gray, Stephanie A. Felker, Hannah Meddaugh, Ashley Cannon, Amanda Luedecke, Kelly E. Jackson, Laura G. Hendon, Hillary M. Janani, Marla Johnston, Lee Ann Merin, Sarah L. Deans, Carly Tuura, Heather Williams, Kelly Laborde, Matthew B. Neu, Jessica Patrick-Esteve, Anna C.E. Hurst, Jegen Kandasamy, Wally Carlo, Kyle B. Brothers, Brian M. Kirmse, Renate Savich, Duane Superneau, Steven B. Spedale, Sara J. Knight, Gregory S. Barsh, Bruce R. Korf, Gregory M. Cooper
Publikováno v:
Genet Med
PURPOSE: SouthSeq is a translational research study that performed genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder. Recruitment targeted racial/ethnic minorities and rural, medically underserved areas in the Southeas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fd5d2980df75b4164bcfcdf944c97a7
https://doi.org/10.1016/j.gim.2021.11.020
https://doi.org/10.1016/j.gim.2021.11.020
Autor:
Anderson, Ashlyn G., Moyers, Belle A., Loupe, Jacob M., Rodriguez-Nunez, Ivan, Felker, Stephanie A., Lawlor, James M.J., Bunney, William E., Bunney, Blynn G., Cartagena, Preston M., Sequeira, Adolfo, Watson, Stanley J., Akil, Huda, Mendenhall, Eric M., Cooper, Gregory M., Myers, Richard M.
Publikováno v:
Genome Research; 2024, Vol. 34 Issue: 8 p1224-1234, 11p
Autor:
Carter A. Wright, Jared W. Taylor, Meagan Cochran, James M.J. Lawlor, Belle A. Moyers, Michelle D. Amaral, Zachary T. Bonnstetter, Princess Carter, Veronika Solomon, Richard M. Myers, Marissa Natelson Love, David S. Geldmacher, Sara J. Cooper, Erik D. Roberson, J. Nicholas Cochran
Publikováno v:
medRxiv
We collected and analyzed genomic sequencing data from individuals with clinician- diagnosed early-onset or atypical dementia. Thirty-two patients were previously described, with sixty-eight newly described in this report. Of those sixty-eight, sixty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17720649a22487298874f8bd9160d67c
https://doi.org/10.1101/2023.02.06.23285383
https://doi.org/10.1101/2023.02.06.23285383
Kniha
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.