Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Alissa Wlodaver"'
Autor:
Andy Drackley, Pamela Rathbun, Alexander Ing, Alissa Wlodaver, Joshua Baker, Rachel Hickey, Merlene Peter, Anne McRae, Sarah Jurgensmeyer, Kai Lee Yap, Carlos Prada
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100501- (2023)
Externí odkaz:
https://doaj.org/article/25af213083c549efa6b4c8b41320e43f
Autor:
Andy Drackley, Casey Brew, Alissa Wlodaver, Sara Spencer, Katrin Leuer, Pamela Rathbun, Joel Charrow, Xuwen Wieneke, Kai Lee Yap, Alexander Ing
Publikováno v:
The Journal of Molecular Diagnostics. 24:1100-1111
In 2019, the American College of Medical Genetics and Genomics and the Clinical Genome Resource published updated technical standards for the interpretation and reporting of copy number variants (CNVs), introducing a semiquantitative classification s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a14fc54314382177eb42821f5e35a89b
https://doi.org/10.1016/j.jmoldx.2022.06.005
https://doi.org/10.1016/j.jmoldx.2022.06.005
Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia
Autor:
Alexander Ing, Erica Toledo, Theresa A. Laguna, Joel Charrow, Victoria R. Sanders, Kristina Firestein, Mary Kate McIntyre, Sabah Kadri, Dawn A. Kirschmann, Alissa Wlodaver, Joanne Salazar, Kai Lee Yap, Christopher McCabe
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Transcriptional analysis can be utilized to reconcile variants of uncertain significance, particularly those predicted to impact splicing. Laboratory analysis of the predicted mRNA transcript may allow inference of the in vivo impact of the variant a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::745b8aac22eb901913f9dc5373f9274e
http://europepmc.org/articles/PMC7903884
http://europepmc.org/articles/PMC7903884
Autor:
Andy Drackley, Casey Brew, Alissa Wlodaver, Sara Spencer, Katrin Carlson Leuer, Pamela Rathbun, Xuwen Wieneke, Kai Lee Yap, Alexander Ing
Publikováno v:
Genetics in Medicine. 24:S362
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::404c6cf8c9a893879b04fc9bfc473e0e
https://doi.org/10.1016/j.gim.2022.01.582
https://doi.org/10.1016/j.gim.2022.01.582