K
K. Wimmer
Researcher at University of Alabama at Birmingham
Publications - 1
Citations - 137
K. Wimmer is an academic researcher from University of Alabama at Birmingham. The author has contributed to research in topics: Multiplex ligation-dependent probe amplification & Nucleic acid amplification technique. The author has an hindex of 1, co-authored 1 publications receiving 130 citations.
Papers
More filters
Journal ArticleDOI
Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients.
K. Wimmer,S. Yao,Kathleen Claes,Hildegard Kehrer-Sawatzki,Sigrid Tinschert,T. De Raedt,Eric Legius,Tom Callens,Tom Callens,H. Beiglböck,Ophélia Maertens,Ludwine Messiaen,Ludwine Messiaen +12 more
TL;DR: It was showed that intragenic deletions and/or duplications represent only ∼2% of all NF1 mutations, and MLPA was a useful first step in a comprehensive mutation analysis scheme to quickly pinpoint patients with single‐ or multiexon deletions/duplications as well as patients with a total gene deletion who will not need full sequencing of the complete coding region.