Follow
Brent L. Fogel
Brent L. Fogel
Professor of Neurology and Human Genetics; University of Los Angeles, California (UCLA)
Verified email at ucla.edu - Homepage
Title
Cited by
Cited by
Year
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
10692014
Clinical features and molecular genetics of autosomal recessive cerebellar ataxias
BL Fogel, S Perlman
The Lancet Neurology 6 (3), 245-257, 2007
3372007
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
2652015
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
2502014
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
2192012
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
1992019
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
1582013
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
1482020
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
1462016
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
1452012
Clinical neurogenetics: autosomal dominant spinocerebellar ataxia
VG Shakkottai, BL Fogel
Neurologic clinics 31 (4), 987-1007, 2013
1192013
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
982015
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
912019
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
892021
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
892018
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
832013
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
812000
Clinical exome sequencing in neurologic disease
BL Fogel, S Satya-Murti, BH Cohen
Neurology: Clinical Practice 6 (2), 164-176, 2016
772016
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
752023
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
742019
The system can't perform the operation now. Try again later.
Articles 1–20