Zobrazeno 1 - 10
of 139
pro vyhledávání: '"Elaine, Lyon"'
Autor:
Elaine Lyon, Robyn L. Temple-Smolkin, Madhuri Hegde, Julie M. Gastier-Foster, Glenn E. Palomaki, C. Sue Richards
Publikováno v:
The Journal of Molecular Diagnostics. 24:555-565
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::99c29ff9c6157506809b64fa095f602b
https://doi.org/10.1016/j.jmoldx.2021.12.014
https://doi.org/10.1016/j.jmoldx.2021.12.014
Autor:
Marwan K. Tayeh, Andrea Gaedigk, Matthew P. Goetz, Teri E. Klein, Elaine Lyon, Gwendolyn A. McMillin, Stefan Rentas, Marwan Shinawi, Victoria M. Pratt, Stuart A. Scott
Publikováno v:
Genetics in Medicine. 24:759-768
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93cbe5d41d1a9aeaf38161b6b36aef4d
https://doi.org/10.1016/j.gim.2021.12.009
https://doi.org/10.1016/j.gim.2021.12.009
Autor:
Steven M. Harrison, Debra Lochner Doyle, Elaine Lyon, Kandamurugu Manickam, Kristin G. Monaghan, Sonja A. Rasmussen, Michael S. Watson, Michael F. Murray, Maren T. Scheuner, Monica A. Giovanni, Glenn E. Palomaki
Publikováno v:
Genetics in Medicine. 23:989-995
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b6f583f5b303e9e746d558d94f87406
https://doi.org/10.1038/s41436-020-01082-w
https://doi.org/10.1038/s41436-020-01082-w
Autor:
Karen L. Kaul MD, PhD, Linda M. Sabatini PhD, Gregory J. Tsongalis PhD, Angela M. Caliendo MD, PhD, Randall J. Olsen MD, PhD, Edward R. Ashwood MD, Sherri Bale PhD, Robert Benirschke PhD, Dean Carlow MD, PhD, Birgit H. Funke PhD, Wayne W. Grody MD, PhD, Randall T. Hayden MD, Madhuri Hegde PhD, Elaine Lyon PhD, Kazunori Murata PhD, Melissa Pessin MD, Richard D. Press MD, PhD, Richard B. Thomson PhD
Publikováno v:
Academic Pathology, Vol 4 (2017)
An explosion of knowledge and technology is revolutionizing medicine and patient care. Novel testing must be brought to the clinic with safety and accuracy, but also in a timely and cost-effective manner, so that patients can benefit and laboratories
Externí odkaz:
https://doaj.org/article/210cb1e332c4468389676c5e4e19c6f8
Autor:
Elaine, Lyon, Robyn L, Temple-Smolkin, Madhuri, Hegde, Julie M, Gastier-Foster, Glenn E, Palomaki, C Sue, Richards
Publikováno v:
The Journal of molecular diagnostics : JMD. 24(6)
The Association for Molecular Pathology Variant Interpretation Testing Among Laboratories (VITAL) Working Group convened to evaluate the Standards and Guidelines for the Interpretation of Sequence Variants implementation into clinical practice, ident
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7a5fb633241267622c935af5d47fbbd5
https://pubmed.ncbi.nlm.nih.gov/35429647
https://pubmed.ncbi.nlm.nih.gov/35429647
Autor:
Genevieve Pont-Kingdon, Lan-Szu Chou, Kristy Damjanovich, Kelli Sumner, Mark Herrmann, Maria Erali, Elaine Lyon
Publikováno v:
BioTechniques, Vol 42, Iss 2, Pp 193-197 (2007)
Multiplexing genotyping technologies usually require as many probes as genetic variants. Oligonucleotides that span multiple loci—loci spanning probes (LSProbes)—hybridize to two or more noncontiguous DNA sequences present in a template and can b
Externí odkaz:
https://doaj.org/article/71a00d49ad354f13b2b04833af11ecf7
Autor:
Issa Siryani, Mohamed Jama, Nisreen Rumman, Hiyam Marzouqa, Moein Kannan, Elaine Lyon, Musa Hindiyeh
Publikováno v:
PLoS ONE, Vol 10, Iss 7, p e0133890 (2015)
Cystic fibrosis (CF) is an autosomal recessive inherited life-threatening disorder that causes severe damage to the lungs and the digestive system. In Palestine, mutations in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) that co
Externí odkaz:
https://doaj.org/article/2e8e3002f2444634b00fdd6ac333bc3a
Publikováno v:
BioTechniques, Vol 39, Iss 5, Pp 644-650 (2005)
Externí odkaz:
https://doaj.org/article/e74390b1d3b1406cac277f71d69818b9
Autor:
Ozlem Senol-Cosar, Marzia Pasquali, Meredith A. Weaver, Wei Shen, Justyne Ross, Annette Feigenbaum, Gregory M. Enns, Kathleen Wallace, Elaine Lyon, Rong Mao, Jennifer McGlaughon, Heather Baudet
Publikováno v:
Molecular Genetics and Metabolism. 128:122-128
Newborn screening is an incredibly useful tool for the early identification of many metabolic disorders, including fatty acid oxidation (FAO) disorders. In many cases, molecular tests are necessary to reach a final diagnosis, highlighting the need fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aeed1be544e2f15cc23b9f7eb6cebaaa
https://doi.org/10.1016/j.ymgme.2019.07.008
https://doi.org/10.1016/j.ymgme.2019.07.008
Autor:
Hunter H Giles, Megan E Garlapow, Julie M. Eggington, Elaine Lyon, Iain D. Kerr, Christine M. Stanley, Madhuri R Hegde
Publikováno v:
Annual review of genomics and human genetics. 22
Clinical genetic variant classification science is a growing subspecialty of clinical genetics and genomics. The field's continued improvement is essential for the success of precision medicine in both germline (hereditary) and somatic (oncology) con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa0c3dfc215382db6c70be7d5a527fe3
https://pubmed.ncbi.nlm.nih.gov/33900788
https://pubmed.ncbi.nlm.nih.gov/33900788