Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Dianne Keen-Kim"'
Autor:
Bryan J. Gall, Trevor B. Smart, Robin Munch, Supraja Kolluri, Hamsa Tadepally, Karen Phaik Har Lim, Zachary P. Demko, Peter Benn, Vivienne Souter, Nina Sanapareddy, Dianne Keen‐Kim
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 12, Pp n/a-n/a (2022)
Abstract Background Automation has been introduced into variant interpretation, but it is not known how automated variant interpretation performs on a stand‐alone basis. The purpose of this study was to evaluate a fully automated computerized appro
Externí odkaz:
https://doaj.org/article/c7321ea98cd74647b99b4d9e7cb1ca8a
Autor:
Wendy DiNonno, Zachary Demko, Kimberly Martin, Paul Billings, Melissa Egbert, Susan Zneimer, Dianne Keen-Kim, Peter Benn
Publikováno v:
Journal of Clinical Medicine, Vol 8, Iss 9, p 1311 (2019)
Non-invasive prenatal screening (NIPS) based on the analysis of cell-free DNA in maternal plasma has been shown to have high sensitivity and specificity. We gathered follow-up information for pregnancies in women with test-positive NIPS results from
Externí odkaz:
https://doaj.org/article/52e8a101183a437b8ae61d3e86d3dc80
Autor:
Peter Benn, Jennifer Saucier, Maggie Westemeyer, Jody Wallace, Meenakshi Malhotra, Louis Weckstein, Matthew Rabinowitz, Aparna Shetty, Paul Billings, Zachary Demko, Robert Boostanfar, Sarah A. Prins, Christine M. Eng, Dianne Keen-Kim
Publikováno v:
Genetics in Medicine
Purpose To present results from a large cohort of individuals receiving expanded carrier screening (CS) in the United States. Methods Single-gene disorder carrier status for 381,014 individuals was determined using next-generation sequencing (NGS) ba
Autor:
Lisa Vincent, Sumit Punj, Nina Sanapareddy, Ashwini Naik, Trevor Smart, Josie Gray, Ronaldo da Silva Francisco, Vivek Charu, J. Dianne Keen-Kim
Publikováno v:
Genetics in Medicine. 24:S202
Autor:
Mark Hajjar, Jacob Wulff, Paul Billings, Pooja Mohan, Melissa K. Maisenbacher, J. Dianne Keen-Kim, Russell Jelsema
Publikováno v:
Molecular Genetics and Metabolism. 132:S319-S320
Publikováno v:
Molecular Genetics and Metabolism. 132:S273-S274
Autor:
Nina Sanapareddy, Ezen Choo, Irina Rakova, Bryan Gall, J. Dianne Keen-Kim, Benjamin Edward Kang
Publikováno v:
Molecular Genetics and Metabolism. 132:S260-S261
Autor:
Jennifer Saucier, L. Weckstein, Christine M. Eng, Margaret Westemeyer, Sarah A. Prins, Dianne Keen-Kim, Meenakshi Malhotra, P. Benn, Zachary Demko, Paul Billings, A. Shetty, R. Boostanfar
Publikováno v:
Ultrasound in Obstetrics & Gynecology. 56:31-32
Autor:
Li Liang, Emily Becraft, Youbao Sha, J. Dianne Keen-Kim, Melissa Maisenbacher, Elizabeth Repass
Publikováno v:
Molecular Genetics and Metabolism. 132:S268
Autor:
Paul Billings, Fang Fang, Dinah Clark, Darbey Raible, Maggie Westemeyer, Emily Hendricks, Samuel P. Strom, Tessa Pitman, J. Dianne Keen-Kim, Jing Xie, Yuan Xue
Publikováno v:
Molecular Genetics and Metabolism. 132:S248