Ana Pop

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

Benjamin Nota, Eduard A. Struys, Ana Pop et al. · The American Journal of Human Genetics · 2013 · 138 citations · Full text

Causes Combined D-2-, L-2-hydroxyglutaric Aciduria, Mitochondrial Citrate Carrier +7

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy

Huifang Yan, Guy Helman, Swetha E. Murthy et al. · The American Journal of Human Genetics · 2019 · 88 citations · Full text

Molecular Neuroscience, Developmental Biology, Neurophysiology +11

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

Lia Boyle, Mirjam M. C. Wamelink, Gajja S. Salomons et al. · The American Journal of Human Genetics · 2016 · 60 citations · Full text

Down Syndrome, Developmental Anomaly, Developmental Biology +10

Allele-Specific Assay Reveals Functional Variation in the<i>Chalcone Synthase</i>Promoter of<i>Arabidopsis thaliana</i>That Is Compatible with Neutral Evolution

Juliette de Meaux, Ulrike Goebel, Ana Pop et al. · The Plant Cell · 2005 · 52 citations · Full text

Plant Genetics, Genetics, Molecular Genetics +18

The Conserved Third Transmembrane Segment of YidC Contacts Nascent Escherichia coli Inner Membrane Proteins

Zhong Yu, Gregory M. Koningstein, Ana Pop et al. · Journal of Biological Chemistry · 2008 · 44 citations · Full text