Mary Ellen Ahearn

Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy

Juliane Ramser, Mary Ellen Ahearn, C Lenski et al. · The American Journal of Human Genetics · 2008 · 183 citations · Full text

Ube1 Are Associated, Rare Diseases, Rare Missense +8

Structural rearrangements of the chloroplast genome provide an important phylogenetic link in ferns.

Diana B. Stein, David S. Conant, Mary Ellen Ahearn et al. · Proceedings of the National Academy of Sciences · 1992 · 64 citations · Full text

Botany, Comparative Genomics, Genetics +19

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

Jesse M. Hunter, Mary Ellen Ahearn, Christopher Balak et al. · Molecular Genetics & Genomic Medicine · 2015 · 46 citations · Full text

Interchromosomal Segmental Duplications Explain the Unusual Structure of PRSS3, the Gene for an Inhibitor-Resistant Trypsinogen

Lee Rowen, Eleanor Williams, Gustavo Glusman et al. · Molecular Biology and Evolution · 2005 · 35 citations · Full text

Cytogenetics, Genetics, Genomic Mechanism +18

X-linked infantile spinal muscular atrophy: Clinical definition and molecular mapping

Devin Dressman, Mary Ellen Ahearn, Kemal O. Yariz et al. · Genetics in Medicine · 2007 · 32 citations · Full text