Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Teija M.I. Bily"'
Autor:
Steven Erwood, Onofrio Laselva, Teija M.I. Bily, Reid A. Brewer, Alexandra H. Rutherford, Christine E. Bear, Evgueni A. Ivakine
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 1118-1128 (2020)
Nonsense-mediated decay (NMD) is a major pathogenic mechanism underlying a diversity of genetic disorders. Nonsense variants tend to lead to more severe disease phenotypes and are often difficult targets for small molecule therapeutic development as
Externí odkaz:
https://doaj.org/article/eb2405ef414a48d59db42b474b399baf
Autor:
Reid A. Brewer, Teija M.I. Bily, Onofrio Laselva, Alexandra H. Rutherford, Evgueni A. Ivakine, Steven Erwood, Christine E. Bear
Publikováno v:
Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 1118-1128 (2020)
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 1118-1128 (2020)
Nonsense-mediated decay (NMD) is a major pathogenic mechanism underlying a diversity of genetic disorders. Nonsense variants tend to lead to more severe disease phenotypes and are often difficult targets for small molecule therapeutic development as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75e80f83da4849f196a2a2866431d5b7
http://europepmc.org/articles/PMC7256445
http://europepmc.org/articles/PMC7256445
Autor:
Teija M.I. Bily, Ronald D. Cohn, Laurence Pelletier, Lequyer J, Yan J, Gulati N, Reid A. Brewer, Liangchi Zhou, Steven Erwood, Evgueni A. Ivakine
Over the last decade, next generation sequencing has become widely implemented in clinical practice. However, as genetic variants of uncertain significance (VUS) are frequently identified, the need for scaled functional interpretation of such variant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc404c94250b52a6d0168c1f3dde9b52
https://doi.org/10.1101/2021.05.11.443710
https://doi.org/10.1101/2021.05.11.443710
Autor:
Steven Erwood, Liangchi Zhou, Teija M.I. Bily, Eleonora Maino, Reid A. Brewer, Ronald D. Cohn, Evgueni A. Ivakine
Publikováno v:
Genome Res
The accurate clinical interpretation of human sequence variation is foundational to personalized medicine. This remains a pressing challenge, however, as genome sequencing becomes routine and new functionally undefined variants rapidly accumulate. He
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b963dd4b8a6edcac1ce3114faf4bfd91
https://europepmc.org/articles/PMC6886506/
https://europepmc.org/articles/PMC6886506/