Author Search Results

1

by White Alexander J, Thorne Marielle, Estrella Elicia, Feener Chris A, Kang Peter B, Darras Basil T, Amato Anthony A, Kunkel Louis M
Published 2007-11-01

Get full text

Article

2

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in <it>GNE</it>

by Mahoney Lane J, Lidov Hart GW, Estrella Elicia A, Duncan Anna R, Boyden Steven E, Katz Jonathan S, Kunkel Louis M, Kang Peter B
Published 2011-06-01

Get full text

Article

3

Regulation of DMD pathology by an ankyrin-encoded miRNA

by Alexander Matthew S, Casar Juan, Motohashi Norio, Myers Jennifer A, Eisenberg Iris, Gonzalez Robert T, Estrella Elicia A, Kang Peter B, Kawahara Genri, Kunkel Louis M
Published 2011-08-01

Get full text

Article

4

Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes

by Wu Bai-Lin, Lai Poh, Shen Yiping, Lip Va, Barrett Caitlin, Cheng Andrew S, Burgess Stephanie, Estrella Elicia, Schneider Hal E, Bennett Richard R, Darras Basil T, Beggs Alan H, Kunkel Louis M
Published 2009-10-01

Get full text

Article

5

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

by Cummings, Beryl, Marshall, Jamie L., Tukiainen, Taru, Lek, Monkol, Donkervoort, Sandra, Foley, A. Reghan, Bolduc, Veronique, Waddell, Leigh B., Sandaradura, Sarah A., O'Grady, Gina L., Estrella, Elicia, Reddy, Hemakumar M., Zhao, Fengmei, Weisburd, Ben, Karczewski, Konrad, O'Donnell-Luria, Anne H., Birnbaum, Daniel, Sarkozy, Anna, Hu, Ying, Gonorazky, Hernan, Claeys, Kristl, Joshi, Himanshu, Bournazos, Adam, Oates, Emily C., Ghaoui, Roula, Davis, Mark R., Laing, Nigel G., Topf, Ana, Kang, Peter B., Beggs, Alan H., North, Kathryn N., Straub, Volker, Dowling, James J., Muntoni, Francesco, Clarke, Nigel F., Cooper, Sandra T., Bönnemann, Carsten G., MacArthur, Daniel G.
Published 2020

Get fulltext

Article