Clinical application of an NGS-based method in the preimplantation genetic testing for Duchenne muscular dystrophy

The Sequence Alignment/Map format and SAMtools

Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 64.7K citations · Full text

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 60.7K citations · Full text

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

Eric P. Hoffman, Corlee J. Bertelson, Anthony P. Monaco et al. · Cell · 1987 · 2.4K citations

Mendelian Disorder, Dmd Gene, Duchenne Muscular Dystrophy +9

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

Sebahattin Çirak, Virginia Arechavala‐Gomeza, Michela Guglieri et al. · The Lancet · 2011 · 852 citations · Full text

Exon Skipping, Urology, Duchenne Muscular Dystrophy +4

Single cell sequencing reveals low levels of aneuploidy across mammalian tissues

Kristin A. Knouse, Jie Wu, Charles A. Whittaker et al. · Proceedings of the National Academy of Sciences · 2014 · 317 citations · Full text

Cytogenetics, Genetics, Pathology +20