| Clinical exome sequencing for genetic identification of rare Mendelian disorders H Lee, JL Deignan, N Dorrani, SP Strom, S Kantarci, F Quintero-Rivera, ... Jama 312 (18), 1880-1887, 2014 | 1086 | 2014 |
| Clinical features and molecular genetics of autosomal recessive cerebellar ataxias BL Fogel, S Perlman The Lancet Neurology 6 (3), 245-257, 2007 | 342 | 2007 |
| Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export A Legati, D Giovannini, G Nicolas, U López-Sánchez, B Quintáns, ... Nature genetics 47 (6), 579-581, 2015 | 271 | 2015 |
| Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia BL Fogel, H Lee, JL Deignan, SP Strom, S Kantarci, X Wang, ... JAMA neurology 71 (10), 1237-1246, 2014 | 248 | 2014 |
| RBFOX1 regulates both splicing and transcriptional networks in human neuronal development BL Fogel, E Wexler, A Wahnich, T Friedrich, C Vijayendran, F Gao, ... Human molecular genetics 21 (19), 4171-4186, 2012 | 221 | 2012 |
| Bioinformatics-based identification of expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS H Rafehi, DJ Szmulewicz, MF Bennett, NLM Sobreira, K Pope, KR Smith, ... The American Journal of Human Genetics 105 (1), 151-165, 2019 | 217 | 2019 |
| Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification SC Hsu, RL Sears, RR Lemos, B Quintáns, A Huang, E Spiteri, L Nevarez, ... Neurogenetics 14, 11-22, 2013 | 164 | 2013 |
| Diagnostic utility of transcriptome sequencing for rare Mendelian diseases H Lee, AY Huang, L Wang, AJ Yoon, G Renteria, A Eskin, RH Signer, ... Genetics in Medicine 22 (3), 490-499, 2020 | 155 | 2020 |
| Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings F Mochel, R Schiffmann, ME Steenweg, HO Akman, M Wallace, F Sedel, ... Annals of neurology 72 (3), 433-441, 2012 | 150 | 2012 |
| Whole exome sequencing in patients with white matter abnormalities A Vanderver, C Simons, G Helman, J Crawford, NI Wolf, G Bernard, ... Annals of neurology 79 (6), 1031-1037, 2016 | 148 | 2016 |
| Clinical neurogenetics: autosomal dominant spinocerebellar ataxia VG Shakkottai, BL Fogel Neurologic clinics 31 (4), 987-1007, 2013 | 123 | 2013 |
| α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson’s disease from multiple system atrophy S Dutta, S Hornung, A Kruayatidee, KN Maina, I Del Rosario, KC Paul, ... Acta neuropathologica 142 (3), 495-511, 2021 | 107 | 2021 |
| An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 H Rafehi, J Read, DJ Szmulewicz, KC Davies, P Snell, LG Fearnley, ... The American Journal of Human Genetics 110 (1), 105-119, 2023 | 102 | 2023 |
| Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans? BL Fogel, SM Hanson, EBE Becker Movement disorders: official journal of the Movement Disorder Society 30 (2 …, 2015 | 100 | 2015 |
| IRF2BPL is associated with neurological phenotypes PC Marcogliese, V Shashi, RC Spillmann, N Stong, JA Rosenfeld, ... The American Journal of Human Genetics 103 (2), 245-260, 2018 | 97 | 2018 |
| Clinical application of next-generation sequencing to the practice of neurology J Rexach, H Lee, JA Martinez-Agosto, AH Németh, BL Fogel The Lancet Neurology 18 (5), 492-503, 2019 | 95 | 2019 |
| Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder BR Bill, JK Lowe, CT DyBuncio, BL Fogel International review of neurobiology 113, 251-267, 2013 | 85 | 2013 |
| A cellular protein, hnRNP H, binds to the negative regulator of splicing element from Rous sarcoma virus BL Fogel, MT McNally Journal of Biological Chemistry 275 (41), 32371-32378, 2000 | 81 | 2000 |
| A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative V Shashi, K Schoch, R Spillmann, H Cope, QKG Tan, N Walley, L Pena, ... Genetics in Medicine 21 (1), 161-172, 2019 | 80 | 2019 |
| Clinical exome sequencing in neurologic disease BL Fogel, S Satya-Murti, BH Cohen Neurology: Clinical Practice 6 (2), 164-176, 2016 | 79 | 2016 |
