| The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 CL Bennett, J Christie, F Ramsdell, ME Brunkow, PJ Ferguson, ... Nature genetics 27 (1), 20-21, 2001 | 4228 | 2001 |
| DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4) YZ Chen, CL Bennett, HM Huynh, IP Blair, I Puls, J Irobi, I Dierick, A Abel, ... The American Journal of Human Genetics 74 (6), 1128-1135, 2004 | 1003 | 2004 |
| A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome CL Bennett, ME Brunkow, F Ramsdell, KC O'Briant, Q Zhu, RL Fuleihan, ... Immunogenetics 53, 435-439, 2001 | 301 | 2001 |
| The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome MA Parisi, CL Bennett, ML Eckert, WB Dobyns, JG Gleeson, DWW Shaw, ... The American Journal of Human Genetics 75 (1), 82-91, 2004 | 291 | 2004 |
| Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C VA Street, CL Bennett, JD Goldy, AJ Shirk, KA Kleopa, BL Tempel, ... Neurology 60 (1), 22-26, 2003 | 253 | 2003 |
| IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena CL Bennett, HD Ochs Current opinion in pediatrics 13 (6), 533-538, 2001 | 249 | 2001 |
| Cross-sectional analysis of Met235→ Thr variant of angiotensinogen gene in severe, familial hypertension CL Bennett, AP Schrader, BJ Morris Biochemical and biophysical research communications 197 (2), 833-839, 1993 | 153 | 1993 |
| AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome MA Parisi, D Doherty, ML Eckert, DWW Shaw, H Ozyurek, S Aysun, ... Journal of medical genetics 43 (4), 334-339, 2006 | 141 | 2006 |
| Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease YZ Chen, SH Hashemi, SK Anderson, Y Huang, MC Moreira, DR Lynch, ... Neurobiology of disease 23 (1), 97-108, 2006 | 139 | 2006 |
| Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5 Y Chen, Q Gao, X Zhao, Y Chen, LB Craig, X Xiong, C Mei, Y Shi, X Chen Chinese medical journal 123 (22), 3326-3333, 2010 | 138 | 2010 |
| X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11. 23-Xq13. 3 CL Bennett, R Yoshioka, H Kiyosawa, DF Barker, PR Fain, AO Shigeoka, ... The American Journal of Human Genetics 66 (2), 461-468, 2000 | 123 | 2000 |
| Mutation of SIMPLE in Charcot–Marie–Tooth 1C alters production of exosomes H Zhu, S Guariglia, RYL Yu, W Li, D Brancho, H Peinado, D Lyden, ... Molecular biology of the cell 24 (11), 1619-1637, 2013 | 106 | 2013 |
| SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot‐Marie‐Tooth disease AJ Shirk, SK Anderson, SH Hashemi, PF Chance, CL Bennett Journal of neuroscience research 82 (1), 43-50, 2005 | 94 | 2005 |
| Prevalence of ALDH7A1 mutations in 18 North American pyridoxine‐dependent seizure (PDS) patients CL Bennett, Y Chen, S Hahn, IA Glass, SM Gospe Jr Epilepsia 50 (5), 1167-1175, 2009 | 89 | 2009 |
| SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve CL Bennett, AJ Shirk, HM Huynh, VA Street, E Nelis, L Van Maldergem, ... Annals of Neurology: Official Journal of the American Neurological …, 2004 | 80 | 2004 |
| Microtubule defects & neurodegeneration FJ Baird, CL Bennett Journal of genetic syndrome & gene therapy 4, 203, 2013 | 74 | 2013 |
| Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients CL Bennett, SG Dastidar, SC Ling, B Malik, T Ashe, M Wadhwa, DB Miller, ... Acta neuropathologica 136, 425-443, 2018 | 59 | 2018 |
| In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome AG Bassuk, YZ Chen, SD Batish, N Nagan, P Opal, PF Chance, ... Neurogenetics 8, 45-49, 2007 | 59 | 2007 |
| An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits MJ Doherty, IA Glass, CL Bennett, PD Cotter, NF Watson, AL Mitchell, ... Epilepsia 44 (12), 1529-1535, 2003 | 55 | 2003 |
| A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4 ) localizes to a 500-kb interval on chromosome 9q34 IP Blair, CL Bennett, A Abel, BA Rabin, JW Griffin, KH Fischbeck, ... Neurogenetics 3, 1-6, 2000 | 53 | 2000 |
