Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Shawn Rynearson"'
P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care
Autor:
Sabrina Malone-Jenkins, Brian Shayota, Chelsea Solorzano, Rachel Palmquist, Steven Boyden, Barry Moore, Thomas Nicholas, Rong Mao, Pinar Bayrak-Toydemir, Katherine Noble, Andrew Farrell, Edgar Hernandez, Shawn Rynearson, Carson Holt, Alistair Ward, Najla Al-Sweel, Jian Zhao, Makenzie Fulmer, Lucilla Pizzo, Ting Wen, John O'Shea, Robert Lewis, Hayley Reynolds, Eric Fredrickson, Kelsey Nicholson, David Pattison, Hunter Best, Luca Brunelli, Mark Yandell, Gabor Marth, Aaron Quinlan, John Carey, Martin Tristani-Firouzi, Joshua Bonkowsky
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100271- (2023)
Externí odkaz:
https://doaj.org/article/5e1d6bdeb37c4149a303e6eb6e29d24b
Autor:
Barry Moore, Thomas Nicholas, Rong Mao, Brian Shayota, Steven Boyden, Chelsea Solorzano, Rachel Palmquist, Pinar Bayrak-Toydemir, Katherine Noble, Andrew Farrell, Edgar Hernandez, Shawn Rynearson, Carson Holt, Alistair Ward, Eric Fredrickson, Kelsey Nicholson, David Pattison, Jian Zhao, Makenzie Fulmer, Lucilla Pizzo, Ting Wen, John O'Shea, Robert Lewis, Hayley Reynolds, Betsy Ostrander, Hunter Best, Luca Brunelli, Mark Yandell, Gabor Marth, Aaron Quinlan, John Carey, Martin Tristani-Firouzi, Joshua Bonkowsky, Sabrina Malone-Jenkins
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100563- (2023)
Externí odkaz:
https://doaj.org/article/351ab484383e498d93fb967bf13b3585
Autor:
Ting Wen, Hayley Reynolds, Andrew Farrell, Barry Moore, Steven Boyden, Thomas Nicholas, Shawn Rynearson, Carson Holt, Christine Miller, Katherine Noble, Dawn Bentley, Rachel Palmquist, Betsy Ostrander, Stephanie Manberg, Joshua Bonkowsky, Brian Shayota, Sabrina Malone-Jenkins, Pinar Bayrak-Toydemir, Rong Mao
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100632- (2023)
Externí odkaz:
https://doaj.org/article/5baff10e5cb44ab8a8f8565b4d3a94b6
Autor:
Thomas Nicholas, Andrew Farrell, Shawn Rynearson, Carson Holt, Steven Boyden, Barry Moore, Najla Al-Sweel, Christine Miller, Lucilla Pizzo, Chelsea Solorzano, Rachel Palmquist, Ashley Andrews, Rong Mao, Pinar Bayrak-Toydemir, Eric Fredrickson, Katherine Noble, Brian Shayota, Joshua Bonkowsky, John Carey, Sabrina Malone-Jenkins, Lorenzo Botto, Aaron Quinlan
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100730- (2023)
Externí odkaz:
https://doaj.org/article/febaaa8988774d45a7a298d33d7cc6f9
Autor:
Thomas J. Nicholas, Najla Al‐Sweel, Andrew Farrell, Rong Mao, Pinar Bayrak‐Toydemir, Christine E. Miller, Dawn Bentley, Rachel Palmquist, Barry Moore, Edgar J. Hernandez, Michael J. Cormier, Eric Fredrickson, Katherine Noble, Shawn Rynearson, Carson Holt, Mary Anne Karren, Joshua L. Bonkowsky, Martin Tristani‐Firouzi, Mark Yandell, Gabor Marth, Aaron R. Quinlan, Luca Brunelli, Reha M. Toydemir, Brian J. Shayota, John C. Carey, Steven E. Boyden, Sabrina Malone Jenkins
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)
Abstract Background Genetic disorders contribute to significant morbidity and mortality in critically ill newborns. Despite advances in genome sequencing technologies, a majority of neonatal cases remain unsolved. Complex structural variants (SVs) of
Externí odkaz:
https://doaj.org/article/1827760dc59544598719c7df6f5aa0f2
Autor:
Alex H. Wagner, Lawrence Babb, Gil Alterovitz, Michael Baudis, Matthew Brush, Daniel L. Cameron, Melissa Cline, Malachi Griffith, Obi L. Griffith, Sarah E. Hunt, David Kreda, Jennifer M. Lee, Stephanie Li, Javier Lopez, Eric Moyer, Tristan Nelson, Ronak Y. Patel, Kevin Riehle, Peter N. Robinson, Shawn Rynearson, Helen Schuilenburg, Kirill Tsukanov, Brian Walsh, Melissa Konopko, Heidi L. Rehm, Andrew D. Yates, Robert R. Freimuth, Reece K. Hart
Publikováno v:
Cell Genomics, Vol 1, Iss 2, Pp 100027- (2021)
Summary: Maximizing the personal, public, research, and clinical value of genomic information will require the reliable exchange of genetic variation data. We report here the Variation Representation Specification (VRS, pronounced “verse”), an ex
Externí odkaz:
https://doaj.org/article/3859bdfa7d3c4f77bb01c6a9ee4f69c7
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person
Autor:
Jason A. O’Rawe, Han Fang, Shawn Rynearson, Reid Robison, Edward S. Kiruluta, Gerald Higgins, Karen Eilbeck, Martin G. Reese, Gholson J. Lyon
Publikováno v:
PeerJ, Vol 1, p e177 (2013)
Background. In recent years, there has been an explosion in the number of technical and medical diagnostic platforms being developed. This has greatly improved our ability to more accurately, and more comprehensively, explore and characterize human b
Externí odkaz:
https://doaj.org/article/0d0739dfa29e41d996ae3d448bba5f7e
Autor:
Hayley M, Reynolds, Ting, Wen, Andrew, Farrell, Rong, Mao, Barry, Moore, Steven E, Boyden, Pinar, Bayrak-Toydemir, Thomas J, Nicholas, Shawn, Rynearson, Carson, Holt, Christine, Miller, Katherine, Noble, Dawn, Bentley, Rachel, Palmquist, Betsy, Ostrander, Stephanie, Manberg, Joshua L, Bonkowsky, Brian J, Shayota, Sabrina Malone, Jenkins
Publikováno v:
Cold Spring Harbor molecular case studies. 8(7)
Congenital myasthenic syndrome (CMS) is a group of 32 disorders involving genetic dysfunction at the neuromuscular junction resulting in skeletal muscle weakness that worsens with physical activity. Precise diagnosis and molecular subtype identificat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b121e8945c983c80ed67587e4307c717
https://pubmed.ncbi.nlm.nih.gov/36379720
https://pubmed.ncbi.nlm.nih.gov/36379720
Autor:
Shawn Rynearson, Michael Baudis, Eric Moyer, Kirill Tsukanov, Malachi Griffith, Tristan Nelson, Sarah E. Hunt, Kevin Riehle, Reece K. Hart, Daniel L Cameron, Robert R. Freimuth, Ronak Y. Patel, Melissa S. Cline, Gil Alterovitz, Obi L. Griffith, Heidi L. Rehm, Lawrence J. Babb, Alex H. Wagner, David A. Kreda, Melissa A. Konopko, Jennifer M. Lee, Helen Schuilenburg, Andrew D. Yates, Matthew H. Brush, Stephanie Li, Peter N. Robinson, Javier Lopez, Brian Walsh
Publikováno v:
Cell genomics. 1(2)
Summary Maximizing the personal, public, research, and clinical value of genomic information will require the reliable exchange of genetic variation data. We report here the Variation Representation Specification (VRS, pronounced “verse”), an ext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a895b31fece94c5e300a86e7879dab
https://pubmed.ncbi.nlm.nih.gov/35311178
https://pubmed.ncbi.nlm.nih.gov/35311178
While there are several public repositories of biological sequence variation data and associated annotations, there is little open-source tooling designed specifically for the upkeep of local collections of variant data. Many clinics curate and maint
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::914d1665273c33a9b1b908dbf36c461d
https://doi.org/10.22541/au.162261754.44560305/v1
https://doi.org/10.22541/au.162261754.44560305/v1
