Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Kevin M Bowling"'
Autor:
Jason Gertz, Katherine E Varley, Timothy E Reddy, Kevin M Bowling, Florencia Pauli, Stephanie L Parker, Katerina S Kucera, Huntington F Willard, Richard M Myers
Publikováno v:
PLoS Genetics, Vol 7, Iss 8, p e1002228 (2011)
The methylation of cytosines in CpG dinucleotides is essential for cellular differentiation and the progression of many cancers, and it plays an important role in gametic imprinting. To assess variation and inheritance of genome-wide patterns of DNA
Externí odkaz:
https://doaj.org/article/2abfdcce32734e878176e8e269a24ef1
Autor:
Nita A Limdi, Devin Absher, Irf Asif, Lori Bateman, Greg Barsh, Kevin M. Bowling, Gregory M. Cooper, Brittney H. Davis, Kelly M. East, Candice R. Finnila, Blake Goff, Susan Hiatt, Melissa Kelly, Whitley V. Kelley, Bruce R. Korf, Donald R. Latner, James Lawlor, Thomas May, Matt Might, Irene P. Moss, Mariko Nakano-Okuno, Tiffany Osborne, Stephen Sodeke, Adriana Stout, Michelle L. Thompson
Publikováno v:
Journal of Clinical and Translational Science, Vol 7, Pp 100-101 (2023)
OBJECTIVES/GOALS: Supported by the State of Alabama, the Alabama Genomic Health Initiative (AGHI) is aimed at preventing and treating common conditions with a genetic basis. This joint UAB Medicine-HudsonAlpha Institute for Biotechnology effort provi
Externí odkaz:
https://doaj.org/article/837b5bfa60884410b37c71dec2ad6f9f
Autor:
Brothers, Amy A. Lemke, Michelle L. Thompson, Emily C. Gimpel, Katelyn C. McNamara, Carla A. Rich, Candice R. Finnila, Meagan E. Cochran, James M. J. Lawlor, Kelly M. East, Kevin M. Bowling, Donald R. Latner, Susan M. Hiatt, Michelle D. Amaral, Whitley V. Kelley, Veronica Greve, 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, Trent Hughes, Heather Williams, Kelly Laborde, Matthew B. Neu, Jessica Patrick-Esteve, Anna C. E. Hurst, Brian M. Kirmse, Renate Savich, Steven B. Spedale, Sara J. Knight, Gregory S. Barsh, Bruce R. Korf, Gregory M. Cooper, Kyle B.
Publikováno v:
Journal of Personalized Medicine; Volume 13; Issue 7; Pages: 1026
Background: It is critical to understand the wide-ranging clinical and non-clinical effects of genome sequencing (GS) for parents in the NICU context. We assessed parents’ experiences with GS as a first-line diagnostic tool for infants with suspect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::657740f79eb9a508fdaea4a4ed6566e0
Autor:
Ryne C. Ramaker, Kevin M. Bowling, Brittany N. Lasseigne, Megan H. Hagenauer, Andrew A. Hardigan, Nicholas S. Davis, Jason Gertz, Preston M. Cartagena, David M. Walsh, Marquis P. Vawter, Edward G. Jones, Alan F. Schatzberg, Jack D. Barchas, Stanley J. Watson, Blynn G. Bunney, Huda Akil, William E. Bunney, Jun Z. Li, Sara J. Cooper, Richard M. Myers
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-12 (2017)
Abstract Background Psychiatric disorders are multigenic diseases with complex etiology that contribute significantly to human morbidity and mortality. Although clinically distinct, several disorders share many symptoms, suggesting common underlying
Externí odkaz:
https://doaj.org/article/29db10a441b94b67924cb7c4510ec9e2
Autor:
Kevin M. Bowling, Michelle L. Thompson, Michelle D. Amaral, Candice R. Finnila, Susan M. Hiatt, Krysta L. Engel, J. Nicholas Cochran, Kyle B. Brothers, Kelly M. East, David E. Gray, Whitley V. Kelley, Neil E. Lamb, Edward J. Lose, Carla A. Rich, Shirley Simmons, Jana S. Whittle, Benjamin T. Weaver, Amy S. Nesmith, Richard M. Myers, Gregory S. Barsh, E. Martina Bebin, Gregory M. Cooper
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-11 (2017)
Abstract Background Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios. Methods W
Externí odkaz:
https://doaj.org/article/895f744bb3324791b83b71e276793d82
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:
Stephanie A Felker, James MJ Lawlor, Susan M Hiatt, Michelle L Thompson, Donald R Latner, Candice R Finnila, Kevin M Bowling, Zachary T Bonnstetter, Katherine E Bonini, Nicole R Kelly, Whitley V Kelley, Anna CE Hurst, Melissa A Kelly, Ghunwa Nakouzi, Laura G Hendon, E Martina Bebin, Eimear E Kenny, Gregory M Cooper
PurposeNeurodevelopmental disorders (NDDs) often result from rare genetic variation, but genomic testing yield for NDDs remains around 50%, suggesting some clinically relevant rare variants may be missed by standard analyses. Here we analyze “poiso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1d216d5994ea7884fe8a6e070dedbfec
https://doi.org/10.1101/2023.01.12.523654
https://doi.org/10.1101/2023.01.12.523654
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. 14(1)
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 and Genomi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb1e6cf30a801003dec63611c0157b00
https://pubmed.ncbi.nlm.nih.gov/36414972
https://pubmed.ncbi.nlm.nih.gov/36414972
Autor:
Kelly M. East, Whitley V. Kelley, James M.J. Lawlor, Kelly Williams, Irene P. Moss, Gregory S. Barsh, Michelle L. Thompson, Devin Absher, Jeffrey C. Edberg, Gregory M. Cooper, Kevin M. Bowling, E. Christopher Partridge, David E. Gray, Bruce R. Korf, Anna C.E. Hurst
Publikováno v:
Genetics in Medicine. 23:280-288
Purpose To evaluate the effectiveness and specificity of population-based genomic screening in Alabama. Methods The Alabama Genomic Health Initiative (AGHI) has enrolled and evaluated 5369 participants for the presence of pathogenic/likely pathogenic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e46dc66c8cb2d6841a54bfb564b3f2f
https://doi.org/10.1038/s41436-020-00976-z
https://doi.org/10.1038/s41436-020-00976-z
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
PurposeSouthSeq, a translational research study to perform genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder, was conducted in NICUs in the Southeastern US. Recruitment targeted racial/ethnic minorities and rural, medi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::94497677121ed14a19dbae2b2378b755
https://doi.org/10.1101/2021.08.31.21262633
https://doi.org/10.1101/2021.08.31.21262633