Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Robert G, Best"'
Autor:
Robert G. Best, Marc S. Williams
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100778- (2023)
Externí odkaz:
https://doaj.org/article/8a56b37285164b83961d358379753a20
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100806- (2023)
Purpose: Workforce shortages are observed in many sectors of the economy, including clinical genomics laboratories. Although medical technologists are essential for the primary functions of laboratory operations and many institutions in the United St
Externí odkaz:
https://doaj.org/article/5841122bdd3c4e9a8766d1e7eed54b08
Autor:
Christopher Ronald Funk, Elizabeth S. Huey, Melanie M. May, Yunhui Peng, Ekaterina Michonova, Robert G. Best, Charles E. Schwartz, Anna V. Blenda
Publikováno v:
Journal of International Medical Research, Vol 48 (2020)
Objective Split-hand/foot malformation (SHFM) is a rare, often debilitating, congenital limb malformation. A single nucleotide polymorphism within the leucine zipper containing kinase AZK ( ZAK ) gene was recently associated with SHFM in two consangu
Externí odkaz:
https://doaj.org/article/ee4a7c91dfc04162ac5b53ad3511b86d
Autor:
Rossa W.K. Chiu, Joris Vermeesch, Glenn E. Palomaki, Louise Wilkins-Haug, Robert G. Best, Erik A. Sistermans, Neeta L. Vora, Mark D. Pertile, Yuval Yaron
Publikováno v:
Prenatal Diagnosis, 41(10), 1222-1232. John Wiley and Sons Ltd
Palomaki, G E, Chiu, R W K, Pertile, M D, Sistermans, E A, Yaron, Y, Vermeesch, J R, Vora, N L, Best, R G & Wilkins-Haug, L 2021, ' International Society for Prenatal Diagnosis Position Statement : cell free (cf)DNA screening for Down syndrome in multiple pregnancies ', Prenatal Diagnosis, vol. 41, no. 10, pp. 1222-1232 . https://doi.org/10.1002/pd.5832
Palomaki, G E, Chiu, R W K, Pertile, M D, Sistermans, E A, Yaron, Y, Vermeesch, J R, Vora, N L, Best, R G & Wilkins-Haug, L 2021, ' International Society for Prenatal Diagnosis Position Statement : cell free (cf)DNA screening for Down syndrome in multiple pregnancies ', Prenatal Diagnosis, vol. 41, no. 10, pp. 1222-1232 . https://doi.org/10.1002/pd.5832
ispartof: PRENATAL DIAGNOSIS vol:41 issue:10 pages:1222-1232 ispartof: location:England status: published
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87cbfece47595c10397145da45e5248c
http://www.scopus.com/inward/record.url?scp=85096651011&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85096651011&partnerID=8YFLogxK
Autor:
Nathalie Lepage, Glenn E. Palomaki, Rhona J. Souers, Edward R. Ashwood, Philip Wyatt, Robert G. Best, John A. Thorson
Publikováno v:
Genetics in Medicine. 22:777-784
Summarize and interpret results from exercises distributed to laboratories offering cell-free (cf) DNA screening for Down syndrome. The College of American Pathologists distributed three patient-derived plasma specimens twice in 2018. Sequencing plat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::adf70a5e7d0288aef56f42a38c36ee7b
https://doi.org/10.1038/s41436-019-0718-4
https://doi.org/10.1038/s41436-019-0718-4
Autor:
Robert G. Best, Caleb Bupp, Anthony R. Gregg, Devin Oglesbee, Glenn E. Palomaki, Mary E. Norton
Publikováno v:
Genetics in Medicine. 22:462-474
Open neural tube defects (ONTDs) include open spina bifida (OSB) and anencephaly. These defects are caused by incomplete closure of the neural tube at about 4 weeks of pregnancy. Levels of early second-trimester maternal serum (ms) alpha-fetoprotein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6151a4dcd8507b359acef00752be0153
https://doi.org/10.1038/s41436-019-0681-0
https://doi.org/10.1038/s41436-019-0681-0
Autor:
Jeffrey S. Dungan, Susan Klugman, Sandra Darilek, Jennifer Malinowski, Yassmine M.N. Akkari, Kristin G. Monaghan, Angelika Erwin, Robert G. Best
Publikováno v:
Genetics in Medicine. 25:100336
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57ada27f72d2f36c52fd45c7b5b27201
https://doi.org/10.1016/j.gim.2022.11.004
https://doi.org/10.1016/j.gim.2022.11.004
Autor:
Robert G. Best
Publikováno v:
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ISBN: 9780128152362
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c37adde3ef36493a6a534ef0a92ffb34
https://doi.org/10.1016/b978-0-12-815236-2.00011-4
https://doi.org/10.1016/b978-0-12-815236-2.00011-4
Autor:
Robert G. Best, George Khushf, Sara Schonfeld Rabin-Havt, Ellen Wright Clayton, Theresa A. Grebe, Jill Hagenkord, Scott Topper, Jaime Fivecoat, Margaret Chen, Wayne W. Grody
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f184146bd73e2974b11c8363e52a0db
https://pubmed.ncbi.nlm.nih.gov/35253644
https://pubmed.ncbi.nlm.nih.gov/35253644
Autor:
Katie Stoll, Brian G. Skotko, Stephanie Meredith, Susan Klugman, Marsha Michie, Komal Bajaj, Megan Allyse, Mark A. Leach, Anthony R. Gregg, Robert G. Best
Publikováno v:
Obstetrical & Gynecological Survey. 75:224-226
Noninvasive prenatal screening (NIPS) for fetal aneuploidy via cell-free DNA has been commercially available in the United States since 2011. In 2016, the American College of Medical Genetics and Genomics (ACMG) issued a position statement with speci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8b8410673e389caaafa0c4889c68adb
https://doi.org/10.1097/01.ogx.0000659632.14386.94
https://doi.org/10.1097/01.ogx.0000659632.14386.94