Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Katarzyna A, Ellsworth"'
Autor:
Jennifer Schleit, Meredith Wright, Lauren Olsen, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo del Angel, Katarzyna (Kasia) Ellsworth, Annette Feigenbaum, Erwin Frise, Lucia Guidugli, Kevin Hall, Christian Hansen, Charlotte Hobbs, Mark Kiel, Chad Krilow, Chris Kunard, YongHyun Kwon, Rao Madhavrao, Shyamal Mehtalia, William Mowrey, Jennie Le, Jeremy Leipzig, Yupu Liang, Rebecca Mardach, Danny Oh, Mallory Owen, Liana Protopsaltis, Erica Sanford Kobayashi, Gunter Scharer, Brandon Schultz, Seth Shelnutt, Laurie Smith, Duke Tran, Lucita Van Der Kraan, Kristen Wigby, Mary Willis, Aaron Wolen, Mark Yandell, Thomas Defay, Stephen Kingsmore
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101043- (2024)
Externí odkaz:
https://doaj.org/article/5daec32c1b634cde9bb11add9157b198
Autor:
Eric Ontiveros, Liana Protopsaltis, Rebecca Baer, Matthew Bainbridge, Bryant Cao, Yan Ding, Katarzyna (Kasia) Ellsworth, Laura Forero, Erwin Frise, Lucia Guidugli, YongHyun Kwon, Jennie Le, Scott Oltman, Mallory Owen, Erica Sanford Kobayashi, Lucita Van Der Kraan, Meredith Wright, Mark Yandell, Laura Jelliffe-Pawlowski, Gretchen Bandoli, Christina Chambers, Stephen Kingsmore
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101053- (2024)
Externí odkaz:
https://doaj.org/article/63819eca9b15442a9543c6cdea32b6cc
Autor:
Christina A. Austin-Tse, Vaidehi Jobanputra, Denise L. Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Ted Young, Sarah Barnett, John W. Belmont, Nicole Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas-Wilson, Hutton M. Kearney, Heidi L. Rehm, Medical Genome Initiative
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-13 (2022)
Abstract Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these
Externí odkaz:
https://doaj.org/article/6905d648dde247ee8ce993083466d75f
Autor:
James N. Ingle, Richard M. Weinshilboum, Aman Buzdar, Eric D. Wieben, William R. Miller, J. Michael Dixon, Saranya Ravi, Vera J. Suman, Anthony Batzler, Gregory D. Jenkins, Brooke L. Fridley, Yvette N. Martin, Bruce W. Eckloff, Linda L. Pelleymounter, Irene Moon, Katarzyna A. Ellsworth, Liewei Wang
Supplementary Tables 1-4, Figures 1-2 from Functional Genetic Polymorphisms in the Aromatase Gene CYP19 Vary the Response of Breast Cancer Patients to Neoadjuvant Therapy with Aromatase Inhibitors
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40802f1513bdf9448a84e941fabf4618
https://doi.org/10.1158/0008-5472.22382681.v1
https://doi.org/10.1158/0008-5472.22382681.v1
Autor:
James N. Ingle, Richard M. Weinshilboum, Aman Buzdar, Eric D. Wieben, William R. Miller, J. Michael Dixon, Saranya Ravi, Vera J. Suman, Anthony Batzler, Gregory D. Jenkins, Brooke L. Fridley, Yvette N. Martin, Bruce W. Eckloff, Linda L. Pelleymounter, Irene Moon, Katarzyna A. Ellsworth, Liewei Wang
Aromatase (CYP19) is a critical enzyme in estrogen biosynthesis and aromatase inhibitors (AI) are employed widely for endocrine therapy in postmenopausal women with breast cancer. We hypothesized that single nucleotide polymorphisms (SNPs) in the CYP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b2cac2727e5c2c89858e652a48d2ab47
https://doi.org/10.1158/0008-5472.c.6500285
https://doi.org/10.1158/0008-5472.c.6500285
Autor:
Mallory J. Owen, Sergey Batalov, Katarzyna A. Ellsworth, Meredith Wright, Sylvia Breeding, Kwon Hugh, Stephen F. Kingsmore, Yan Ding
Publikováno v:
Methods in Molecular Biology ISBN: 9781071629499
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a4a65379c6c2ab5ce707005dbb6fc6b6
https://doi.org/10.1007/978-1-0716-2950-5_12
https://doi.org/10.1007/978-1-0716-2950-5_12
Autor:
Christina Ashburner, Arthur D’Harlingue, Rosanna Spicer, Suma P. Shankar, Shimul Chowdhury, Juliette Hunt, David Dimmock, Katarzyna A. Ellsworth, Neda Zadeh, Bryce Waldman, Lauge Farnaes, Wendy Benson, Madelena Martin, Jason Knight, Sara A. Caylor, Ofelia Vargas-Shiraishi, Aaina Kochhar, Mario Augusto Rojas, Charlotte A. Hobbs, Priscilla Joe, Katherine A. Rauen, Maries Joseph, Kathleen Houtchens, Richard Kronick, Ami Doshi, Adam Schwarz, Stephen F. Kingsmore, Carolina I. Galarreta, Jason Carmichael, Jolie Limon, Elaine Cham, Robert H. Kaplan, Jeanne Carroll, Kristen Wigby, John P. Cleary
Publikováno v:
American journal of human genetics, vol 108, iss 7
Am J Hum Genet
Am J Hum Genet
Genetic disorders are a leading contributor to mortality in neonatal and pediatric intensive care units (ICUs). Rapid whole-genome sequencing (rWGS)-based rapid precision medicine (RPM) is an intervention that has demonstrated improved clinical outco
Autor:
Stephen T. McGarvey, Daniel D. Nguyen, Shaya S. Eftekharian, Daniel E. Weeks, Sha Tang, Mariella Simon, Sacha Ferdinandusse, Muagututia Sefuiva Reupena, David Dimmock, Take Naseri, Jose E. Abdenur, Frédéric M. Vaz, James Pitt, Ryan L. Minster, Sansan Lee, Katarzyna A. Ellsworth
Publikováno v:
American Journal of Medical Genetics. Part a
American journal of medical genetics. Part A, 185(1), 157-167. Wiley-Liss Inc.
American journal of medical genetics. Part A, 185(1), 157-167. Wiley-Liss Inc.
Mutations in the short‐chain enoyl‐CoA hydratase (SCEH) gene, ECHS1, cause a rare autosomal recessive disorder of valine catabolism. Patients usually present with developmental delay, regression, dystonia, feeding difficulties, and abnormal MRI w
Autor:
Jennifer H. Yang, Marisa W. Friederich, Katarzyna A. Ellsworth, Aliya Frederick, Emily Foreman, Denise Malicki, David Dimmock, Jerica Lenberg, Chitra Prasad, Andrea C. Yu, C. Anthony Rupar, Robert A. Hegele, Kandamurugu Manickam, Daniel C. Koboldt, Erin Crist, Samantha S. Choi, Sali M.K. Farhan, Helen Harvey, Shifteh Sattar, Natalya Karp, Terence Wong, Richard Haas, Johan L. K. Van Hove, Kristen Wigby
Publikováno v:
Human mutation, vol 43, iss 3
Hum Mutat
Hum Mutat
Iron-sulfur cluster proteins are involved in critical functions for gene expression regulation and mitochondrial bioenergetics including the oxidative phosphorylation system. The c.215G>A p.(Arg72Gln) variant in NFS1 has been previously reported to c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e645f94902b36d211d5a0a320945ef4f
https://escholarship.org/uc/item/68j1p63k
https://escholarship.org/uc/item/68j1p63k
Autor:
Bernt Popp, Shelby Romoser, Lara Menzies, Stacey A. Bélanger, Alireza Radmanesh, Kimberly A. Aldinger, Jennifer Keller-Ramey, Janice Baker, Jane A. Hurst, William B. Dobyns, Schahram Akbarian, Sébastien Jacquemont, Jan Maarten Cobben, Larissa Kerecuk, Kelly Radtke, Joseph T. Shieh, Khadije Jizi, Ian A. Glass, Patrick Watts, Nicola Foulds, Jerica Lenberg, Sumit Punj, George E. Hoganson, Nancy J. Mendelsohn, Rachel Rabin, Ina Sorge, Katarzyna A. Ellsworth, Katharina Löhner, Manuela Siekmeyer, Jennifer Burton, Leah Dowsett, John A. Bernat, Hannah Bombei, John Pappas, Henny H. Lemmink, Francis H. Sansbury, Ingrid M. Wentzensen, Kirsty McWalter, Deborah Osio, Pamela Trapane, Hermine E. Veenstra-Knol
Publikováno v:
American journal of medical genetics. Part A, 182(9), 2037-2048. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 182(9), 2037-2048. Wiley
American Journal of Medical Genetics. Part A, 182(9), 2037-2048. Wiley
The SET domain containing 2, histone lysine methyltransferase encoded by SETD2 is a dual-function methyltransferase for histones and microtubules and plays an important role for transcriptional regulation, genomic stability, and cytoskeletal function