| 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 | 402 | 2007 |
| 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 | 394 | 2012 |
| Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA) MC Kruer, C Paisán‐Ruiz, N Boddaert, MY Yoon, H Hama, A Gregory, ... Annals of neurology 68 (5), 611-618, 2010 | 260 | 2010 |
| 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 | 220 | 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 | 217 | 2008 |
| 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 | 199 | 2008 |
| Hereditary sensory autonomic neuropathy caused by a mutation in dystonin S Edvardson, Y Cinnamon, C Jalas, A Shaag, C Maayan, FB Axelrod, ... Annals of neurology 71 (4), 569-572, 2012 | 168 | 2012 |
| Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation I Berger, E Hershkovitz, A Shaag, S Edvardson, A Saada, O Elpeleg Annals of neurology 63 (3), 405-408, 2008 | 141 | 2008 |
| Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation S Edvardson, A Shaag, S Zenvirt, Y Erlich, GJ Hannon, AL Shanske, ... The American Journal of Human Genetics 86 (1), 93-97, 2010 | 137 | 2010 |
| Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome M Simon, EM Richard, X Wang, M Shahzad, VH Huang, TA Qaiser, ... PLoS genetics 11 (3), e1005097, 2015 | 128 | 2015 |
| Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy UN Abdulhag, D Soiferman, O Schueler-Furman, C Miller, A Shaag, ... European Journal of Human Genetics 23 (2), 159-164, 2015 | 117 | 2015 |
| Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function R Sheffer, L Douiev, S Edvardson, A Shaag, K Tamimi, D Soiferman, ... American journal of medical genetics Part A 170 (6), 1603-1607, 2016 | 101 | 2016 |
| West syndrome caused by ST3Gal‐III deficiency S Edvardson, AM Baumann, M Mühlenhoff, O Stephan, AW Kuss, ... Epilepsia 54 (2), e24-e27, 2013 | 101 | 2013 |
| Mutation in The Nuclear‐Encoded Mitochondrial Isoleucyl–tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature … J Schwartzentruber, D Buhas, J Majewski, F Sasarman, ... Human mutation 35 (11), 1285-1289, 2014 | 100 | 2014 |
| SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis R Spiegel, A Shaag, S Edvardson, H Mandel, P Stepensky, SA Shalev, ... Annals of Neurology: Official Journal of the American Neurological …, 2009 | 97 | 2009 |
| Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex R Kaufmann, R Straussberg, H Mandel, A Fattal-Valevski, B Ben-Zeev, ... The American Journal of Human Genetics 87 (5), 667-670, 2010 | 96 | 2010 |
| Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy R Spiegel, A Saada, J Halvardson, D Soiferman, A Shaag, S Edvardson, ... European journal of human genetics 22 (7), 902-906, 2014 | 95 | 2014 |
| Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination N Damseh, A Simonin, C Jalas, JA Picoraro, A Shaag, MT Cho, B Yaacov, ... Journal of medical genetics 52 (8), 541-547, 2015 | 94 | 2015 |
| KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction T Dor, Y Cinnamon, L Raymond, A Shaag, N Bouslam, A Bouhouche, ... Journal of medical genetics 51 (2), 137-142, 2014 | 90 | 2014 |
| tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy S Edvardson, L Prunetti, A Arraf, D Haas, JM Bacusmo, JF Hu, A Ta-Shma, ... European Journal of Human Genetics 25 (5), 545-551, 2017 | 86 | 2017 |
