| Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy A Saada, A Shaag, H Mandel, Y Nevo, S Eriksson, O Elpeleg Nature genetics 29 (3), 342-344, 2001 | 695 | 2001 |
| The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA H Mandel, R Szargel, V Labay, O Elpeleg, A Saada, A Shalata, ... Nature genetics 29 (3), 337-341, 2001 | 645 | 2001 |
| Deleterious mutation in the mitochondrial arginyl–transfer RNA synthetase gene is associated with pontocerebellar hypoplasia S Edvardson, A Shaag, O Kolesnikova, JM Gomori, I Tarassov, ... The American Journal of Human Genetics 81 (4), 857-862, 2007 | 386 | 2007 |
| Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion O Elpeleg, C Miller, E Hershkovitz, M Bitner-Glindzicz, ... The American Journal of Human Genetics 76 (6), 1081-1086, 2005 | 377 | 2005 |
| A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism S Edvardson, Y Cinnamon, A Ta-Shma, A Shaag, YI Yim, S Zenvirt, ... PloS one 7 (5), e36458, 2012 | 372 | 2012 |
| Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit L van den Heuvel, W Ruitenbeek, R Smeets, Z Gelman-Kohan, O Elpeleg, ... The American Journal of Human Genetics 62 (2), 262-268, 1998 | 300 | 1998 |
| A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins A Navarro-Sastre, F Tort, O Stehling, MA Uzarska, JA Arranz, M Del Toro, ... The American Journal of Human Genetics 89 (5), 656-667, 2011 | 294 | 2011 |
| Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation C Miller, A Saada, N Shaul, N Shabtai, E Ben‐Shalom, A Shaag, ... Annals of Neurology: Official Journal of the American Neurological …, 2004 | 262 | 2004 |
| Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood A Zeharia, A Shaag, RH Houtkooper, T Hindi, P de Lonlay, G Erez, ... The American Journal of Human Genetics 83 (4), 489-494, 2008 | 260 | 2008 |
| Acute infantile liver failure due to mutations in the TRMU gene A Zeharia, A Shaag, O Pappo, AM Mager-Heckel, A Saada, M Beinat, ... The American Journal of Human Genetics 85 (3), 401-407, 2009 | 250 | 2009 |
| Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy J Loeffen, O Elpeleg, J Smeitink, R Smeets, S Stöckler‐Ipsiroglu, ... Annals of Neurology: Official Journal of the American Neurological …, 2001 | 234 | 2001 |
| Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews Y Anikster, R Kleta, A Shaag, WA Gahl, O Elpeleg The American Journal of Human Genetics 69 (6), 1218-1224, 2001 | 217 | 2001 |
| Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome R Belostotsky, E Ben-Shalom, C Rinat, R Becker-Cohen, S Feinstein, ... The American Journal of Human Genetics 88 (2), 193-200, 2011 | 213 | 2011 |
| Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia S Edvardson, H Hama, A Shaag, JM Gomori, I Berger, D Soffer, ... The American Journal of Human Genetics 83 (5), 643-648, 2008 | 210 | 2008 |
| Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis Y Erlich, S Edvardson, E Hodges, S Zenvirt, P Thekkat, A Shaag, T Dor, ... Genome research 21 (5), 658-664, 2011 | 206 | 2011 |
| Glutaryl‐CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations SI Goodman, DE Stein, S Schlesinger, E Christensen, M Schwartz, ... Human mutation 12 (3), 141-144, 1998 | 206 | 1998 |
| Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects P Stepensky, B Keller, M Buchta, AK Kienzler, O Elpeleg, R Somech, ... Journal of allergy and clinical immunology 131 (2), 477-485. e1, 2013 | 201 | 2013 |
| Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs JAM Smeitink, O Elpeleg, H Antonicka, H Diepstra, A Saada, P Smits, ... The American Journal of Human Genetics 79 (5), 869-877, 2006 | 201 | 2006 |
| C6ORF66 is an assembly factor of mitochondrial complex I A Saada, S Edvardson, M Rapoport, A Shaag, K Amry, C Miller, ... The American Journal of Human Genetics 82 (1), 32-38, 2008 | 196 | 2008 |
| The H syndrome is caused by mutations in the nucleoside transporter hENT3 V Molho-Pessach, I Lerer, D Abeliovich, Z Agha, AA Libdeh, V Broshtilova, ... The American Journal of Human Genetics 83 (4), 529-534, 2008 | 195 | 2008 |
