Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Peter V. Grauman"'
Autor:
Valentina S. Vysotskaia, Gregory J. Hogan, Genevieve M. Gould, Xin Wang, Alex D. Robertson, Kevin R. Haas, Mark R. Theilmann, Lindsay Spurka, Peter V. Grauman, Henry H. Lai, Diana Jeon, Genevieve Haliburton, Matt Leggett, Clement S. Chu, Kevin Iori, Jared R. Maguire, Kaylene Ready, Eric A. Evans, Hyunseok P. Kang, Imran S. Haque
Publikováno v:
PeerJ, Vol 5, p e3046 (2017)
The past two decades have brought many important advances in our understanding of the hereditary susceptibility to cancer. Numerous studies have provided convincing evidence that identification of germline mutations associated with hereditary cancer
Externí odkaz:
https://doaj.org/article/2583b6401d394609b0e50fd51a04e636
Autor:
Genevieve M Gould, Peter V Grauman, Mark R Theilmann, Lindsay Spurka, Irving E Wang, Laura M Melroy, Robert G Chin, Dustin H Hite, Clement S Chu, Jared R Maguire, Gregory J Hogan, Dale Muzzey
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-13 (2018)
Abstract Background Hereditary cancer screening (HCS) for germline variants in the 3′ exons of PMS2, a mismatch repair gene implicated in Lynch syndrome, is technically challenging due to homology with its pseudogene PMS2CL. Sequences of PMS2 and P
Externí odkaz:
https://doaj.org/article/ccfcf68da84140cda2157d12caa3e872
Autor:
Donna Neuberg, Benjamin L. Ebert, R. Coleman Lindsley, Stephen R. Spellman, Peter V. Grauman, Katharine C. Hsu, Wael Saber, Corey Cutler, Michael D. Haagenson, Michael R. Verneris, Brenton G. Mar, Katharina Fleischhauer, Robert A. Redd, Joseph H. Antin, Zhen-Huan Hu, Stephanie J. Lee, Tao Wang
Publikováno v:
New England Journal of Medicine. 376:536-547
Genetic mutations drive the pathogenesis of the myelodysplastic syndrome (MDS) and are closely associated with clinical phenotype. Therefore, genetic mutations may predict clinical outcomes after allogeneic hematopoietic stem-cell transplantation.We
Autor:
Jeraldine Lim-Harashima, Lindsay Spurka, James D. Goldberg, Kyle A. Beauchamp, Peter V. Grauman, Katherine Johansen Taber, Dale Muzzey, Ashley Svenson
Publikováno v:
Genetics in Medicine. 21:2407-2408
The original version of this Article contained an error in Figure 3. Specifically, the result “3 (67%) TOP” should read “2 (67%) TOP.” This has now been corrected in both the PDF and HTML versions of the Article.
Autor:
Dale Muzzey, Kyle A. Beauchamp, James D. Goldberg, Lindsay Spurka, Jeraldine Lim-Harashima, Katherine Johansen Taber, Ashley Svenson, Peter V. Grauman
Publikováno v:
Genetics in Medicine
Purpose Medical society guidelines recommend offering genotyping-based cystic fibrosis (CF) carrier screening to pregnant women or women considering pregnancy. We assessed the performance of sequencing-based CF screening relative to genotyping, in te
Autor:
Genevieve M. Gould, Laura M. Melroy, Peter V. Grauman, Gregory J. Hogan, Clement Chu, Irving E Wang, Jared Maguire, Dustin H Hite, Robert Chin, Lindsay Spurka, Mark R. Theilmann, Dale Muzzey
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-13 (2018)
BMC Medical Genetics
BMC Medical Genetics
BackgroundHereditary cancer screening (HCS) for germline variants in the 3’ exons of PMS2, a mismatch repair gene implicated in Lynch syndrome, is technically challenging due to homology with its pseudogene PMS2CL. Sequences of PMS2 and PMS2CL are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89e0c33a7addd7498b8c887ffc679c23
Autor:
Hyunseok P. Kang, Imran S. Haque, Sun Hae Hong, Clement Chu, Eric A. Evans, Diana Jeon, Lai Henry H, Rebecca Mar-Heyming, Kyle A. Beauchamp, Valentina Vysotskaia, Peter V. Grauman, Gregory J. Hogan, Dale Muzzey, Shera Kash, Stefanie Seisenberger, Laura M. Melroy, Jared Maguire, Kevin Iori, Kevin R. Haas, Mark R. Theilmann
Publikováno v:
Clinical chemistry. 64(7)
BACKGROUND By identifying pathogenic variants across hundreds of genes, expanded carrier screening (ECS) enables prospective parents to assess the risk of transmitting an autosomal recessive or X-linked condition. Detection of at-risk couples depends
Autor:
Ryan J. Chappell, Rebecca L. Zon, Peter V. Grauman, Brenton G. Mar, Marie McConkey, Richard Koche, Jacob L. Kotlier, Cecilia A. Castellano, Andrei V. Krivtsov, Josephine Kahn, Scott A. Armstrong, Benjamin L. Ebert, Jonathan Chabon, S. Haihua Chu, James J. Hsieh
Mutations in SETD2, encoding the histone 3 lysine 36 trimethyltransferase, are enriched in relapsed acute lymphoblastic leukemia and MLL-rearranged acute leukemia. We investigated the impact of SETD2 mutations on chemotherapy sensitivity in isogenic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56a19e34d40b1248a8e5bedd9b33f1b1
https://europepmc.org/articles/PMC5731084/
https://europepmc.org/articles/PMC5731084/
Autor:
Donna Neuberg, Bayard L. Powell, R. Coleman Lindsley, Neal I. Lindeman, Benjamin L. Ebert, Richard Stone, Harry P. Erba, Brenton G. Mar, David P. Steensma, Arnaud Pigneux, Lloyd E. Damon, Steven L. Allen, Emanuele Mazzola, Sarah Shareef, Robert K. Stuart, Daniel J. DeAngelo, Meir Wetzler, Martha Wadleigh, Peter V. Grauman
Publikováno v:
Blood. 125:1367-1376
Acute myeloid leukemia (AML) can develop after an antecedent myeloid malignancy (secondary AML [s-AML]), after leukemogenic therapy (therapy-related AML [t-AML]), or without an identifiable prodrome or known exposure (de novo AML). The genetic basis
Autor:
Saurav Guha, Lai Henry H, Sun Hae Hong, Gregory J. Hogan, Laura M. Melroy, Shera Kash, Jared Maguire, Hyunseok P. Kang, Imran S. Haque, Diana Jeon, Valentina Vysotskaia, Kyle A. Beauchamp, Peter V. Grauman, Dale Muzzey, Kevin Iori, Rebecca Mar-Heyming, Kevin R. Haas, Mark R. Theilmann, Eric A. Evans, David Jennions, Clement Chu, Kenny K. Wong, Stefanie Seisenberger
PurposeBy identifying pathogenic variants across hundreds of genes, expanded carrier screening (ECS) enables prospective parents to assess risk of transmitting an autosomal recessive or X-linked condition. Detection of at-risk couples depends on the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cdaf464721f4b7bf9b5d1b9378066e3