R
Rachel E. Ellsworth
Researcher at National Institutes of Health
Publications - 3
Citations - 607
Rachel E. Ellsworth is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Gene & Chromosome 7 (human). The author has an hindex of 3, co-authored 3 publications receiving 578 citations.
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Journal ArticleDOI
Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V
Anthony Antonellis,Anthony Antonellis,Rachel E. Ellsworth,Nyamkhishig Sambuughin,Imke Puls,Annette Abel,Shih Queen Lee-Lin,Albena Jordanova,Ivo Kremensky,Kyproula Christodoulou,Lefkos T. Middleton,Kumaraswamy Sivakumar,Victor Ionasescu,Benoît Funalot,Jeffery M. Vance,Lev G. Goldfarb,Kenneth H. Fischbeck,Eric D. Green +17 more
TL;DR: The identification of four disease-associated missense mutations in the glycyl tRNA synthetase gene in families with CMT2D and dSMA-V is reported, which makes genes that encode these enzymes relevant candidates for other inherited neuropathies and motor neuron diseases.
Journal ArticleDOI
Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes.
Rachel E. Ellsworth,D. Curtis Jamison,Jeffrey W. Touchman,Stephanie L. Chissoe,Valerie Maduro,Gerard G. Bouffard,Nicole Dietrich,Stephen M. Beckstrom-Sternberg,Leslie M. Iyer,Lauren A. Weintraub,Marc Cotton,Laura Courtney,Jennifer Edwards,Rachel Maupin,Philip Ozersky,Theresa Rohlfing,Patricia Wohldmann,Tracie L. Miner,Kimberley Kemp,Jason B. Kramer,Ian F Korf,Kimberlie Pepin,Lucinda Antonacci-Fulton,Robert S. Fulton,Patrick Minx,LaDeana W. Hillier,Richard K. Wilson,Robert H. Waterston,Webb Miller,Eric D. Green +29 more
TL;DR: The generated sequence reveals the precise architecture of genes residing near CFTR/Cftr, including one known gene (WNT2/Wnt2) and two previously unknown genes that immediately flank CFTR or Cftr.
Journal ArticleDOI
The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.
Rachel E. Ellsworth,Victor Ionasescu,Charles Searby,Val C. Sheffield,Valerie V. Braden,Tamara A. Kucaba,John Douglas Mcpherson,Marco A. Marra,Eric D. Green +8 more
TL;DR: More detailed linkage analysis of the original CMT2D family is performed based on new knowledge of the physical locations of various genetic markers, which should expedite the identification of the C MT2D/dSMA gene or genes.