Elena J. Tucker

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Sarah E. Calvo, Alison G. Compton, Steven G. Hershman et al. · Science Translational Medicine · 2012 · 471 citations

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Sarah E. Calvo, Elena J. Tucker, Alison G. Compton et al. · Nature Genetics · 2010 · 359 citations · Full text

Identifies Mutations, Human Complex, Sequencing +11

Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

Elena J. Tucker, Steven G. Hershman, Caroline Köhrer et al. · Cell Metabolism · 2011 · 162 citations · Full text

Mendelian Disorder, Mitochondrial Biogenesis, Mitochondrial Function +7

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Radha Desai, Ann E. Frazier, Romina Durigon et al. · Brain · 2017 · 157 citations · Full text

Engineering, Mitochondrial Dysfunction, Genetics +22

Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Sze Chern Lim, Martin Friemel, Justine E. Marum et al. · Human Molecular Genetics · 2013 · 136 citations · Full text