M
Maggie Stein
Researcher at Nationwide Children's Hospital
Publications - 1
Citations - 12
Maggie Stein is an academic researcher from Nationwide Children's Hospital. The author has contributed to research in topics: Exome sequencing & Sanger sequencing. The author has an hindex of 1, co-authored 1 publications receiving 5 citations.
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Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Cecelia R. Miller,Kristy Lee,Ruthann Pfau,Ruthann Pfau,Shalini C. Reshmi,Shalini C. Reshmi,Donald J. Corsmeier,Sayaka Hashimoto,Ashita Dave-Wala,Vijayakumar Jayaraman,Daniel C. Koboldt,Daniel C. Koboldt,Theodora Matthews,Danielle Mouhlas,Maggie Stein,Aimee McKinney,Thomas Grossman,Benjamin J. Kelly,Peter White,Peter White,Vincent Magrini,Vincent Magrini,Richard K. Wilson,Richard K. Wilson,Elaine R. Mardis,Elaine R. Mardis,Catherine E. Cottrell,Catherine E. Cottrell +27 more
TL;DR: The potential and importance of detecting mosaicism in ES is highlighted, particularly with increased sequence depth attainable from ES, as well as the need to assess diagnostic yield and characteristics of causal variants.