Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Christian R Tilley"'
Autor:
Daniel S Marchuk, Kristy Crooks, Natasha Strande, Kathleen Kaiser-Rogers, Laura V Milko, Alicia Brandt, Alexandra Arreola, Christian R Tilley, Chris Bizon, Neeta L Vora, Kirk C Wilhelmsen, James P Evans, Jonathan S Berg
Publikováno v:
PLoS ONE, Vol 13, Iss 12, p e0209185 (2018)
As whole exome sequencing (WES) becomes more widely used in the clinical realm, a wealth of unanalyzed information will be routinely generated. Using WES read depth data to predict copy number variation (CNV) could extend the diagnostic utility of th
Externí odkaz:
https://doaj.org/article/84f150eb820246d5b55e9115ad85abd3
Autor:
Fengshen Kuo, Darius M. Bost, Yun Li, Alicia Brandt, Dayne L. Filer, Kimberly Robasky, Piotr A. Mieczkowski, Kirk C. Wilhelmsen, Jeffery L. Tilson, Jonathan S. Berg, Chris Bizon, Christian R. Tilley, Clark Jeffries, Bradford C. Powell
Publikováno v:
BMC Bioinformatics
BMC Bioinformatics, Vol 22, Iss 1, Pp 1-16 (2021)
BMC Bioinformatics, Vol 22, Iss 1, Pp 1-16 (2021)
Background As exome sequencing (ES) integrates into clinical practice, we should make every effort to utilize all information generated. Copy-number variation can lead to Mendelian disorders, but small copy-number variants (CNVs) often get overlooked
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84bf8a32a3534d6c24556708360bdf89
https://doi.org/10.1186/s12859-021-04246-w
https://doi.org/10.1186/s12859-021-04246-w
Autor:
Cécile Skrzynia, Beverly Koller, Gloria T. Haskell, Jonathan S. Berg, Kirk C. Wilhelmsen, Leigh Ann Samsa, Karen E. Weck, Wei Huang, Edgar A. Rivera-Munoz, Hassan Alhosaini, Jiandong Liu, Bryce A. Seifert, Brian C. Jensen, Christian R. Tilley, Daniel S. Marchuk, James P. Evans
Publikováno v:
Circulation: Cardiovascular Genetics. 10
Background— The genetic variation underlying many heritable forms of cardiovascular disease is incompletely understood, even in patients with strong family history or early age at onset. Methods and Results— We used whole exome sequencing to dete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0bdc54a4b1b7b78e7d54f5af0eca5e01
https://doi.org/10.1161/circgenetics.116.001443
https://doi.org/10.1161/circgenetics.116.001443
Autor:
Robert C. Green, Katrina A.B. Goddard, Gail P. Jarvik, Laura M. Amendola, Paul S. Appelbaum, Jonathan S. Berg, Barbara A. Bernhardt, Leslie G. Biesecker, Sawona Biswas, Carrie L. Blout, Kevin M. Bowling, Kyle B. Brothers, Wylie Burke, Charlisse F. Caga-anan, Arul M. Chinnaiyan, Wendy K. Chung, Ellen W. Clayton, Gregory M. Cooper, Kelly East, James P. Evans, Stephanie M. Fullerton, Levi A. Garraway, Jeremy R. Garrett, Stacy W. Gray, Gail E. Henderson, Lucia A. Hindorff, Ingrid A. Holm, Michelle Huckaby Lewis, Carolyn M. Hutter, Pasi A. Janne, Steven Joffe, David Kaufman, Bartha M. Knoppers, Barbara A. Koenig, Ian D. Krantz, Teri A. Manolio, Laurence McCullough, Jean McEwen, Amy McGuire, Donna Muzny, Richard M. Myers, Deborah A. Nickerson, Jeffrey Ou, Donald W. Parsons, Gloria M. Petersen, Sharon E. Plon, Heidi L. Rehm, J. Scott Roberts, Dan Robinson, Joseph S. Salama, Sarah Scollon, Richard R. Sharp, Brian Shirts, Nancy B. Spinner, Holly K. Tabor, Peter Tarczy-Hornoch, David L. Veenstra, Nikhil Wagle, Karen Weck, Benjamin S. Wilfond, Kirk Wilhelmsen, Susan M. Wolf, Julia Wynn, Joon-Ho Yu, Michelle Amaral, Laura Amendola, Samuel J. Aronson, Shubhangi Arora, Danielle R. Azzariti, Greg S. Barsh, E.M. Bebin, Barbara B. Biesecker, Brian L. Brown, Amber A. Burt, Peter H. Byers, Muge G. Calikoglu, Sara J. Carlson, Nizar Chahin, Kurt D. Christensen, Wendy Chung, Allison L. Cirino, Ellen Clayton, Laura K. Conlin, Greg M. Cooper, David R. Crosslin, James V. Davis, Kelly Davis, Matthew A. Deardorff, Batsal Devkota, Raymond De Vries, Pamela Diamond, Michael O. Dorschner, Noreen P. Dugan, Dmitry Dukhovny, Matthew C. Dulik, Kelly M. East, Edgar A. Rivera-Munoz, Barbara Evans, Jessica Everett, Nicole Exe, Zheng Fan, Lindsay Z. Feuerman, Kelly Filipski, Candice R. Finnila, Kristen Fishler, Bob Ghrundmeier, Karen Giles, Marian J. Gilmore, Zahra S. Girnary, Katrina Goddard, Steven Gonsalves, Adam S. Gordon, Michele C. Gornick, William M. Grady, David E. Gray, Robert Green, Robert S. Greenwood, Amanda M. Gutierrez, Paul Han, Ragan Hart, Patrick Heagerty, Naomi Hensman, Susan M. Hiatt, Patricia Himes, Fuki M. Hisama, Carolyn Y. Ho, Lily B. Hoffman-Andrews, Celine Hong, Martha J. Horike-Pyne, Sara Hull, Seema Jamal, Brian C. Jensen, Steve Joffe, Jennifer Johnston, Dean Karavite, Tia L. Kauffman, Dave Kaufman, Whitley Kelley, Jerry H. Kim, Christine Kirby, William Klein, Bartha Knoppers, Sek Won Kong, Ian Krantz, Joel B. Krier, Neil E. Lamb, Michele P. Lambert, Lan Q. Le, Matthew S. Lebo, Alexander Lee, Kaitlyn B. Lee, Niall Lennon, Michael C. Leo, Kathleen A. Leppig, Katie Lewis, Michelle Lewis, Neal I. Lindeman, Nicole Lockhart, Bob Lonigro, Edward J. Lose, Philip J. Lupo, Laura Lyman Rodriguez, Frances Lynch, Kalotina Machini, Calum MacRae, Daniel S. Marchuk, Josue N. Martinez, Aaron Masino, Heather M. McLaughlin, Carmit McMullen, Piotr A. Mieczkowski, Jeff Miller, Victoria A. Miller, Rajen Mody, Sean D. Mooney, Elizabeth G. Moore, Elissa Morris, Michael Murray, David Ng, Nelly M. Oliver, Will Parsons, Donald L. Patrick, Jeffrey Pennington, Denise L. Perry, Gloria Petersen, Sharon Plon, Katie Porter, Bradford C. Powell, Sumit Punj, Carmen Radecki Breitkopf, Robin A. Raesz-Martinez, Wendy H. Raskind, Dean A. Reigar, Jacob A. Reiss, Carla A. Rich, Carolyn Sue Richards, Christine Rini, Scott Roberts, Peggy D. Robertson, Jill O. Robinson, Marguerite E. Robinson, Myra I. Roche, Edward J. Romasko, Elisabeth A. Rosenthal, Joseph Salama, Maria I. Scarano, Jennifer Schneider, Christine E. Seidman, Bryce A. Seifert, Brian H. Shirts, Lynette M. Sholl, Javed Siddiqui, Elian Silverman, Shirley Simmons, Janae V. Simons, Debra Skinner, Elena Stoffel, Natasha T. Strande, Shamil Sunyaev, Virginia P. Sybert, Jennifer Taber, Deanne M. Taylor, Christian R. Tilley, Ashley Tomlinson, Susan Trinidad, Ellen Tsai, Peter Ubel, Eliezer M. Van Allen, Jason L. Vassy, Pankaj Vats, Victoria L. Vetter, Raymond D. Vries, Sarah A. Walser, Rebecca C. Walsh, Allison Werner-Lin, Jana Whittle, Ben Wilfond, Kirk C. Wilhelmsen, Yaping Yang, Carol Young, Brian J. Zikmund-Fisher
Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49fb9b89f4acdb7665dd777a305e8857
https://europepmc.org/articles/PMC5005464/
https://europepmc.org/articles/PMC5005464/
Autor:
Alicia Brandt, Chris Bizon, Laura V. Milko, Daniel S. Marchuk, Jonathan S. Berg, Kathleen Kaiser-Rogers, Neeta L. Vora, Kirk C. Wilhelmsen, Natasha T. Strande, Christian R. Tilley, Kristy Crooks, James P. Evans, Alexandra Arreola
Publikováno v:
PLoS ONE, Vol 13, Iss 12, p e0209185 (2018)
PLoS ONE
PLoS ONE
As whole exome sequencing (WES) becomes more widely used in the clinical realm, a wealth of unanalyzed information will be routinely generated. Using WES read depth data to predict copy number variation (CNV) could extend the diagnostic utility of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91601fcb261cca2691e68d61a89390c3
https://doi.org/10.1371/journal.pone.0209185
https://doi.org/10.1371/journal.pone.0209185
Autor:
Christian R. Tilley, Kirk C. Wilhelmsen, Natasha T. Strande, Roberto J. Guzman Badillo, Linran Zhou, Kristy Crooks, Krunal Amin, Laura V. Milko, Nizar Chahin, Jonathan S. Berg, Michael C. Adams, Robert S. Greenwood, Yael Shiloh-Malawsky, Michael B. Tennison, James P. Evans, Gloria T. Haskell, Chris Bizon, Zheng Fan, Karen E. Weck, Alicia Brandt
Publikováno v:
Neurology: Genetics
ObjectiveTo evaluate the diagnostic yield and workflow of genome-scale sequencing in patients with neuromuscular disorders (NMDs).MethodsWe performed exome sequencing in 93 undiagnosed patients with various NMDs for whom a molecular diagnosis was not
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::999724c188892c0582c00639fa9eba12
https://doi.org/10.1212/nxg.0000000000000212
https://doi.org/10.1212/nxg.0000000000000212
Autor:
Dayne L. Filer, Fengshen Kuo, Alicia T. Brandt, Christian R. Tilley, Piotr A. Mieczkowski, Jonathan S. Berg, Kimberly Robasky, Yun Li, Chris Bizon, Jeffery L. Tilson, Bradford C. Powell, Darius M. Bost, Clark D. Jeffries, Kirk C. Wilhelmsen
Publikováno v:
BMC Bioinformatics, Vol 22, Iss 1, Pp 1-16 (2021)
Abstract Background As exome sequencing (ES) integrates into clinical practice, we should make every effort to utilize all information generated. Copy-number variation can lead to Mendelian disorders, but small copy-number variants (CNVs) often get o
Externí odkaz:
https://doaj.org/article/f87d9c16bc7b4504933a0bbd8a80a88f