Ivo Kremensky

Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin et al. · The American Journal of Human Genetics · 2003 · 555 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

Joy Irobi, Katrien Van Impe, Pavel Seeman et al. · Nature Genetics · 2004 · 416 citations

Peripheral Nerves, Protein Folding, Medicine +6

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

Albena Jordanova, Joy Irobi, Florian P. Thomas et al. · Nature Genetics · 2006 · 366 citations · Full text

Molecular Neuroscience, Biochemistry, Neuroanatomy +13

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 349 citations · Full text

Metabolic Syndrome, Newborn Screening, Metabolic Disorder +10

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

Raymonda Varon, Rebecca Gooding, Christina Steglich et al. · Nature Genetics · 2003 · 142 citations

Partial Deficiency, Ocular Disease, Ophthalmology +9