Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Shera Kash"'
Autor:
Kaylene Ready, Kevin R. Haas, Piotr Kaleta, Laura M. Melroy, Shera Kash, Kelly A. Pierce, Dale Muzzey, Hyunseok Kang, Jillian I. Johnson
Publikováno v:
The Journal of Molecular Diagnostics. 21:296-306
Clinical genomic tests increasingly use a next-generation sequencing (NGS) platform due in part to the high fidelity of variant calls, yet rare errors are still possible. In germline DNA screening, failure to correct such errors could have serious co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d4297d1513d3c842893c8301a7b10817
https://doi.org/10.1016/j.jmoldx.2018.10.002
https://doi.org/10.1016/j.jmoldx.2018.10.002
Autor:
Dale, Muzzey, Shera, Kash, Jillian I, Johnson, Laura M, Melroy, Piotr, Kaleta, Kelly A, Pierce, Kaylene, Ready, Hyunseok P, Kang, Kevin R, Haas
Publikováno v:
The Journal of molecular diagnostics : JMD. 21(2)
Clinical genomic tests increasingly use a next-generation sequencing (NGS) platform due in part to the high fidelity of variant calls, yet rare errors are still possible. In germline DNA screening, failure to correct such errors could have serious co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d8594ba36d4b6105e4f7e7985ccdf23a
https://pubmed.ncbi.nlm.nih.gov/30529126
https://pubmed.ncbi.nlm.nih.gov/30529126
Autor:
Kaylene Ready, Kevin R. Haas, H. Peter Kang, Kelly A. Pierce, Piotr Kaleta, Laura M. Melroy, Dale Muzzey, Shera Kash, Jillian I. Johnson
Clinical genomic tests increasingly utilize a next generation sequencing (NGS) platform due in part to the high fidelity of variant calls, yet rare errors are still possible. In hereditary cancer screening, failure to correct such errors could have s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7429cb0051ce2cf0c994cb67df308a1e
https://doi.org/10.1101/305011
https://doi.org/10.1101/305011
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e573ace2cbfe5a226042c1a7fd0414ba
https://pubmed.ncbi.nlm.nih.gov/29760218
https://pubmed.ncbi.nlm.nih.gov/29760218
Autor:
Gokce Altay Toruner, Brynn Levy, Federico A. Monzon, Vaidehi Jobanputra, Deanna Streck, Iya Znoyko, Shera Kash, Xiaofeng Hu, Daynna J. Wolff, Margaret J. Dougherty, Jaclyn A. Biegel, Marilyn M. Li, Annette Leon, Jill M. Hagenkord, Gregory H. Doho, Michael R. Rossi, Karla Alvarez, Patricia M. Miron, Jennifer Laffin
Publikováno v:
Cancer Genetics. 208:525-536
Cytogenomic microarray analysis (CMA) offers high resolution, genome-wide copy number information and is widely used in clinical laboratories for diagnosis of constitutional abnormalities. The Cancer Genomics Consortium (CGC) conducted a multiplatfor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfb6eb7755796d957e417d4c5e4615e3
https://doi.org/10.1016/j.cancergen.2015.08.002
https://doi.org/10.1016/j.cancergen.2015.08.002
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
Autor:
Benita Mathai, HyunJung Kim, Karla Alvarez, Federico A. Monzon, Leif E. Peterson, Maureen A. Lyons-Weiler, Shera Kash, Jill M. Hagenkord
Publikováno v:
Diagnostic Molecular Pathology. 19:127-134
BACKGROUND: Chromosomal imbalances are commonly seen in cancer and inherited genetic diseases. These imbalances may assist in the diagnosis, prognosis, and/or therapeutic management of certain neoplasms. Several methods for detecting chromosomal imba
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2750eef098e2a302df1d01299a76e3ea
https://doi.org/10.1097/pdm.0b013e3181d527c5
https://doi.org/10.1097/pdm.0b013e3181d527c5
Autor:
Zlatko Marušić, Mario Zovak, Zoran Gatalica, Manika Sapru Koul, Davor Tomas, Shera Kash, Božo Krušlin, Jill M. Hagenkord, Warren G. Sanger
Publikováno v:
Pathology International. 60:581-585
We report a case of somatic type malignancy with papillary renal cell carcinoma differentiation arising in a retroperitoneal mixed germ cell tumor. The patient was a 36-year-old man with a synchronous mediastinal teratoma. The somatic type malignancy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21ab09d3700aff6d5f8e6f215eeee340
https://doi.org/10.1111/j.1440-1827.2010.02559.x
https://doi.org/10.1111/j.1440-1827.2010.02559.x
Autor:
Shera Kash, Qingmei Xie, Stan L. Lilleberg, Federico A. Monzon, Jeffrey A. Kant, Jill M. Hagenkord
Publikováno v:
The Journal of Molecular Diagnostics. 12:184-196
Specific chromosomal alterations are recognized as important prognostic factors in chronic lymphocytic leukemia (CLL). Array-based karyotyping is gaining acceptance as an alternative to the standard fluorescence in situ hybridization (FISH) panel for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af9298d97269aad30af9863c775e3088
https://doi.org/10.2353/jmoldx.2010.090118
https://doi.org/10.2353/jmoldx.2010.090118
Autor:
Ning Ren, Shera Kash, Samuel D. Wright, M. Gerard Waters, Kang Cheng, Lan Jin, Ruoping Chen, Andrew K.P. Taggart, Tian-Quan Cai
Publikováno v:
Biochemical and Biophysical Research Communications. 377:987-991
Heavy exercise or oxygen deficit often links with higher levels of arterial lactate and lower levels of plasma free fatty acids (FFA). Treatment with lactate reduces circulating levels of FFA in vivo and lipolysis in adipose tissues in vitro. However
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c794c98d51add8eb3e07caff206bbd28
https://doi.org/10.1016/j.bbrc.2008.10.088
https://doi.org/10.1016/j.bbrc.2008.10.088