Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Misha Rashkin"'
Autor:
Misha Rashkin, Kerry Kingham, Karlena Lara‐Otero, Meghan Mckenna, Janelle Villiers, Monty Mykolas Worthington, Anya Prince
Publikováno v:
Journal of Genetic Counseling. 32:18-30
The process of interpreting genetic variants, in which experts use all available evidence to determine whether an identified variant is associated with a current or future disease, is both scientific and nevertheless subjective. In this paper, we sum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f62a4a205a8f16a3a15ccc17391ab5d0
https://doi.org/10.1002/jgc4.1638
https://doi.org/10.1002/jgc4.1638
Autor:
Alyson E. Evans, Heather Rocha, Juliann M. Savatt, Marc S. Williams, Miranda L.G. Hallquist, Tara J. Schmidlen, H. Lester Kirchner, Misha Rashkin, Alanna Kulchak Rahm, Yirui Hu, Marci L.B. Schwartz, Eric P. Tricou, Josie Pervola, Nicole M Deckard, Michael N. Hallquist, Janet L. Williams, Adam H. Buchanan
Publikováno v:
Genetics in Medicine. 22:1348-1354
Cancer genetics clinics have seen increasing demand, challenging genetic counselors (GCs) to increase efficiency and prompting some clinics to implement genetic counseling assistants (GCAs). To evaluate the impact of GCAs on Geisinger’s cancer gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8fdc270d31b612fa1309d474e1db9436
https://doi.org/10.1038/s41436-020-0797-2
https://doi.org/10.1038/s41436-020-0797-2
Autor:
Gai Elhanan, Bruce Lipp, L Sharma, William J. Metcalf, James T. Lu, Chris Rowan, Keith W. Dunaway, Misha Rashkin, M Ferber, Joseph J. Grzymski, Alexandre Bolze, Nicole L. Washington, Robert W Read, E Smith, J A Morales Rosado, N Slotnick, Jonathan C. Kao, S Dabe, Anthony D. Slonim, Karen Schlauch, Johnathan Bowes, Elissa Levin, H Reed
Publikováno v:
Nature Medicine. 26:1235-1239
Three inherited autosomal dominant conditions-BRCA-related hereditary breast and ovarian cancer (HBOC), Lynch syndrome (LS) and familial hypercholesterolemia (FH)-have been termed the Centers for Disease Control and Prevention Tier 1 (CDCT1) genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc9b01b4dfe4af446a39f2fc31ed57ed
https://doi.org/10.1038/s41591-020-0982-5
https://doi.org/10.1038/s41591-020-0982-5
Autor:
Rakesh Biswas, Tiffani DeMarco, Arthur Winer, Raymond Couric Wadlow, Jamie Randall, Misha Rashkin, Rhianna Urban, Timothy Lewis Cannon
Publikováno v:
Journal of Clinical Oncology. 40:10581-10581
10581 Background: MSI-H colorectal cancer is most often a result of deleterious mutations in mismatch repair genes, but can also occur through repressed gene transcription due to hypermethylation of the MLH1 promoter, often associated with BRAF V600E
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e49507bf4032fa855d79dde10e163b0
https://doi.org/10.1200/jco.2022.40.16_suppl.10581
https://doi.org/10.1200/jco.2022.40.16_suppl.10581
Autor:
Joseph J. Grzymski, Magnus Isaksson, Misha Rashkin, Ruomu Jiang, Andrew Dei Rossi, Francisco Tanudjaja, William J. Metcalf, Alexandre Bolze, William E. Lee, Simon R. White, Fernando L. Mendez, James T. Lu, Nicole L. Washington, Elizabeth T. Cirulli
SummaryHigh quality population allele frequencies of DNA variants can be used to discover new biology, and study rare disorders. Here, we created a public catalog of mitochondrial DNA variants based on a population of 195,983 individuals. We focused
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::986b4e32bdd9d01d561adc62e2581144
https://doi.org/10.1101/798264
https://doi.org/10.1101/798264
Autor:
Miranda L G, Hallquist, Eric P, Tricou, Michael N, Hallquist, Juliann M, Savatt, Heather, Rocha, Alyson E, Evans, Nicole, Deckard, Yirui, Hu, H Lester, Kirchner, Josie, Pervola, Alanna Kulchak, Rahm, Misha, Rashkin, Tara J, Schmidlen, Marci L B, Schwartz, Janet L, Williams, Marc S, Williams, Adam H, Buchanan
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 22(8)
Cancer genetics clinics have seen increasing demand, challenging genetic counselors (GCs) to increase efficiency and prompting some clinics to implement genetic counseling assistants (GCAs). To evaluate the impact of GCAs on Geisinger's cancer geneti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c7f79afa89f443b32b7fba4dedf738a3
https://pubmed.ncbi.nlm.nih.gov/32350418
https://pubmed.ncbi.nlm.nih.gov/32350418
Autor:
H Reed, N Slotnick, Elissa Levin, Anthony D. Slonim, Misha Rashkin, Keith W. Dunaway, Johnathan Bowes, E Smith, Bruce Lipp, Chris Rowan, Jonathan C. Kao, Alexandre Bolze, Robert W Read, Karen Schlauch, Joseph J. Grzymski, S Dabe, Gai Elhanan, William J. Metcalf, Nicole L. Washington, James T. Lu
In an unselected population of 23,713 participants who underwent clinical exome sequencing as a part of the Healthy Nevada Project (HNP) in Northern Nevada (Renown Health, Reno, Nevada) from March 15, 2018, to Sept 30, 2018 (Table S1) we find a 1.26%
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9affb973f87d9296733271491f3f433f
Autor:
Erick Loomis, Johnathan Bowes, Stephen Riffle, Elissa Levin, Jasmine Dhaliwal, Misha Rashkin, Chris Ziegler, Keith W. Dunaway, James T. Lu, Nicole L. Washington
Publikováno v:
Journal of genetic counseling. 28(2)
The practice of genetic counseling is going to be impacted by the public's expectation that goods, services, information, and experiences happen on demand, wherever and whenever people want them. Building from trends that are currently taking shape,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f1d9cba67d96043ec535dcf5d4c4527
https://pubmed.ncbi.nlm.nih.gov/30964579
https://pubmed.ncbi.nlm.nih.gov/30964579
Publikováno v:
Current Genetic Medicine Reports. 3:137-142
The dramatic increase in genetic testing technologies has led to discussion about the roles of genetic counselors and other healthcare providers in variant interpretation. The ability to detect DNA variants greatly surpasses the ability to interpret
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b23378aa5e3c1e9fbb0178674e08aad
https://doi.org/10.1007/s40142-015-0073-y
https://doi.org/10.1007/s40142-015-0073-y
Autor:
Misha Rashkin, Brianne E. Kirkpatrick
Publikováno v:
Journal of genetic counseling. 26(1)
Ancestry testing is a home DNA test with many dimensions; in some cases, the implications and outcomes of testing cross over into the health sphere. Common reasons for seeking ancestry testing include determining an estimate of customer's ethnic back
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dda849c245bb6a3c18c6005b7b8ef3f3
https://pubmed.ncbi.nlm.nih.gov/27704392
https://pubmed.ncbi.nlm.nih.gov/27704392