Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Amiee Potter"'
Autor:
Timothy O'Brien, Amiee Potter, Catherine Driscoll, Gregory Goh, Sarah McCabe, Arpita Kulkarni, Rossana Wong, Katie Johnson-Camacho, John Letaw, Jane Thanner, Chris Harrington, Kelly Hamman, Jackie Shannon, Paul Spellman, Sue Richards
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100458- (2023)
Externí odkaz:
https://doaj.org/article/3cd8cecc58e745e7922138bf42f1eb90
Autor:
Amiee Potter, Timothy O'Brien, Arpita Kulkarni, Sarah McCabe, Karen Kovak, Caleb Rogers, Sue Richards, Stephen Moore
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100585- (2023)
Externí odkaz:
https://doaj.org/article/ddb2c72b6d404b35a1c625f0488e8cc4
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100674- (2023)
Externí odkaz:
https://doaj.org/article/779ce891323a4cb19944f76df0b75438
Autor:
Amiee Potter, N. Eleanor Campbell, Timothy D. O’Brien, Arpita Kulkarni, John Letaw, C. Sue Richards
Publikováno v:
Genetics in Medicine. 24:192-200
Purpose Artificial intelligence (AI) and variant prioritization tools for genomic variant analysis are being rapidly developed for use in clinical diagnostic testing. However, their clinical utility and reliability are currently limited. Therefore, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b96663027bd041f3c29fa487fe2c1b53
https://doi.org/10.1016/j.gim.2021.09.007
https://doi.org/10.1016/j.gim.2021.09.007
Autor:
Deborah A. Nickerson, James V. Davis, Jennifer L. Schneider, Mari J. Gilmore, Benjamin S. Wilfond, Pat Himes, Jacob A. Reiss, Laura M. Amendola, C. Sue Richards, Tia L. Kauffman, Carmit K. McMullen, Yassmine Akkari, Gail P. Jarvik, Amiee Potter, Sumit Punj, Alan F. Rope, Katrina A.B. Goddard
Publikováno v:
Clinical Case Reports
Key Clinical Message A research study utilizing whole‐genome sequence analysis for preconception carrier screening provided a genome‐first detection of a severe de novo Factor VIII mutation in a woman with implications for pregnancy management an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0f676b4053d92fd9dbede65c8429bf8
http://europepmc.org/articles/PMC6230667
http://europepmc.org/articles/PMC6230667
Autor:
Vassiliki L. Tsikitis, Stanley R. Hamilton, Amiee Potter, Christina A. Harrington, Angela N. Bartley, Achyut K. Bhattacharyya, M. Peter Lance, Patricia A. Thompson, Julie A. Buckmeier, Christina Preece, Motomi Mori
Publikováno v:
Cancer Prevention Research. 9:942-949
Colorectal cancer and adenoma adjacent to cancer exhibit distinct microRNA (miRNA) alterations in an apparent mucosa-to-adenocarcinoma sequence. The pattern of microRNAs in screen-detected polyps in relation to histologic features and cancer risk has
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::079e327275dade0ef6077350a491d63a
https://doi.org/10.1158/1940-6207.capr-16-0086
https://doi.org/10.1158/1940-6207.capr-16-0086
Autor:
Nicole Wieghard, Yuki Chin, Katherine A. Kelley, V. Liana Tsikitis, Amiee Potter, Motomi Mori, Koei Chin, Melissa H. Wong
Publikováno v:
Diseases of the colon and rectum. 61(11)
Background MicroRNAs are dysregulated in colorectal cancer and subsets correlated with advanced tumor stage and metastasis. Data are lacking on microRNA dysregulation from early to late-stage disease. Objective The purpose of this study was to identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::168b0cf7882f9a2cededecc237380ec7
https://pubmed.ncbi.nlm.nih.gov/30239392
https://pubmed.ncbi.nlm.nih.gov/30239392
Autor:
C. L. Scheib, Hongjie Li, Tariq Desai, Vivian Link, Christopher Kendall, Genevieve Dewar, Peter William Griffith, Alexander Mörseburg, John R. Johnson, Amiee Potter, Susan L. Kerr, Phillip Endicott, John Lindo, Marc Haber, Yali Xue, Chris Tyler-Smith, Manjinder S. Sandhu, Joseph G. Lorenz, Tori D. Randall, Zuzana Faltyskova, Luca Pagani, Petr Danecek, Tamsin C. O’Connell, Patricia Martz, Alan S. Boraas, Brian F. Byrd, Alan Leventhal, Rosemary Cambra, Ronald Williamson, Louis Lesage, Brian Holguin, Ernestine Ygnacio-De Soto, JohnTommy Rosas, Mait Metspalu, Jay T. Stock, Andrea Manica, Aylwyn Scally, Daniel Wegmann, Ripan S. Malhi, Toomas Kivisild
Publikováno v:
Science
Founder effects in modern populations The genomes of ancient humans can reveal patterns of early human migration (see the Perspective by Achilli et al. ). Iceland has a genetically distinct population, despite relatively recent settlement (∼1100 ye
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e089dfd386617c4fb3d01af3c5d8c944
https://www.repository.cam.ac.uk/handle/1810/283639
https://www.repository.cam.ac.uk/handle/1810/283639
Autor:
Jennifer H. Huang, Marian J. Gilmore, Peggy D. Robertson, Dana Kostiner Simpson, Alan F. Rope, Patricia Himes, Amiee Potter, Allison L. Creason, Laura M. Amendola, Yassmine Akkari, Tia L. Kauffman, Michael O. Dorschner, C. Sue Richards, Jennifer Schleit, Deborah A. Nickerson, Benjamin S. Wilfond, Christine Pak, Gail P. Jarvik, Fei Yang, Jacob A. Reiss, Sumit Punj, Katrina A.B. Goddard
Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07f2375bc1380685552bedc180e6813c
https://europepmc.org/articles/PMC5992121/
https://europepmc.org/articles/PMC5992121/
Autor:
Amiee Potter, Valeria R. Mas, Federico G. Villamil, Kellie J. Archer, Jihee L. Suh, Ricardo C. Gehrau, Daniel G. Maluf, Valeria Descalzi
Publikováno v:
Liver Transplantation. 17:824-835
Allograft gene expression analysis may provide insights into the mechanisms involved in liver damage during hepatitis C virus recurrence (HCVrec) after orthotopic liver transplantation (OLT) and allow the identification of patients who have a higher
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8ff0aca1d5e97ae441b1a098abbd2ef1
https://doi.org/10.1002/lt.22309
https://doi.org/10.1002/lt.22309