Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Katherine Noble"'
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:
Brendan O’Fallon, Ashini Bolia, Jacob Durtschi, Luobin Yang, Eric Frederickson, Katherine Noble, Joshua Coleman, Hunter Best
Detection of germline variants in next-generation sequencing data is an essential component of modern genomics analysis. Variant detection tools typically rely on statistical algorithms such as de Bruijn graphs, Hidden Markov Models and regression mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e262149db8c03f587f7deabdeaf6dbe0
https://doi.org/10.1101/2022.09.12.506413
https://doi.org/10.1101/2022.09.12.506413
Publikováno v:
Systematic Entomology. 46:812-826
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::954d87364343baa71f4469d57609ee60
https://doi.org/10.1111/syen.12490
https://doi.org/10.1111/syen.12490
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
Publikováno v:
Journal of Chromatography A. 1589:149-161
Pyrazines are an important group of natural products widely used as food additives and fragrants. Gas chromatography-mass spectrometry (GCMS) is the most widely applied analytical technique for characterization of alkylpyrazines. However, mass spectr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eacb4bfe6942225c95cb8f593b76d4c1
https://doi.org/10.1016/j.chroma.2019.01.011
https://doi.org/10.1016/j.chroma.2019.01.011
Robber flies or assassin flies (Diptera: Asilidae) are a diverse family of venomous predators. The most recent classification organizes Asilidae into 14 subfamilies based on a comprehensive morphological phylogeny, but many of these have not been sup
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0f9f558f4317ead44af22a23e7f043aa
https://doi.org/10.1101/2020.11.09.375196
https://doi.org/10.1101/2020.11.09.375196