| Year |
Citation |
Score |
| 2020 |
Ringman JM, Qiao Y, Garbin A, Fisher BE, Fogel B, Watari Knoell K, Chui HC, Shi Y, Rexach JE. Emotional detachment, gait ataxia, and cerebellar dysconnectivity associated with compound heterozygous mutations in the gene. Neurocase. 1-6. PMID 32893728 DOI: 10.1080/13554794.2020.1817493 |
0.323 |
|
| 2020 |
Burdekin ED, Fogel BL, Jeste SS, Martinez J, Rexach JE, DiStefano C, Hyde C, Safari T, Wilson RB. The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240). Journal of Child Neurology. 883073820943488. PMID 32705938 DOI: 10.1177/0883073820943488 |
0.35 |
|
| 2020 |
McEachin ZT, Gendron TF, Raj N, García-Murias M, Banerjee A, Purcell RH, Ward PJ, Todd TW, Merritt-Garza ME, Jansen-West K, Hales CM, García-Sobrino T, Quintáns B, Holler CJ, Taylor G, ... ... Fogel BL, et al. Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36. Neuron. PMID 32375063 DOI: 10.1016/J.Neuron.2020.04.011 |
0.31 |
|
| 2019 |
Xiao C, M Binkley E, Rexach J, Knight-Johnson A, Khemani P, Fogel BL, Das S, M Stone E, Gomez CM. A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an mutation. Neurology. Genetics. 5: e357. PMID 31750392 DOI: 10.1212/Nxg.0000000000000357 |
0.324 |
|
| 2019 |
Ngo KJ, Rexach JE, Lee H, Petty LE, Perlman S, Valera JM, Deignan JL, Mao Y, Aker M, Posey JE, Jhangiani SN, Coban-Akdemir ZH, Boerwinkle E, Muzny D, Nelson AB, ... ... Fogel BL, et al. A Diagnostic Ceiling for Exome Sequencing in Cerebellar Ataxia and Related Neurological Disorders. Human Mutation. PMID 31692161 DOI: 10.1002/Humu.23946 |
0.4 |
|
| 2019 |
Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, et al. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31607746 DOI: 10.1038/S41436-019-0672-1 |
0.353 |
|
| 2019 |
Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, ... Fogel BL, et al. Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. American Journal of Human Genetics. PMID 31230722 DOI: 10.1016/J.Ajhg.2019.05.016 |
0.395 |
|
| 2019 |
Rexach J, Lee H, Martinez-Agosto JA, Németh AH, Fogel BL. Clinical application of next-generation sequencing to the practice of neurology. The Lancet. Neurology. 18: 492-503. PMID 30981321 DOI: 10.1016/S1474-4422(19)30033-X |
0.358 |
|
| 2019 |
Becherel OJ, Fogel BL, Zeitlin SI, Samaratunga H, Greaney J, Homer H, Lavin MF. Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2). Cerebellum (London, England). PMID 30778901 DOI: 10.1007/S12311-019-01012-W |
0.401 |
|
| 2018 |
Ramos EM, Carecchio M, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Tranchant C, Anheim M, ... ... Fogel BL, et al. Primary brain calcification: an international study reporting novel variants and associated phenotypes. European Journal of Human Genetics : Ejhg. PMID 29955172 DOI: 10.1038/S41431-018-0185-4 |
0.359 |
|
| 2018 |
Ngo K, Aker M, Petty LE, Chen J, Cavalcanti F, Nelson AB, Hassin-Baer S, Geschwind MD, Perlman S, Italiano D, Laganà A, Cavallaro S, Coppola G, Below JE, Fogel BL. Expanding the global prevalence of spinocerebellar ataxia type 42. Neurology. Genetics. 4: e232. PMID 29629410 DOI: 10.1212/Nxg.0000000000000232 |
0.4 |
|
| 2018 |
Fogel BL. Autosomal-recessive cerebellar ataxias. Handbook of Clinical Neurology. 147: 187-209. PMID 29325611 DOI: 10.1016/B978-0-444-63233-3.00013-0 |
0.43 |
|
| 2018 |
Fogel BL. Genetic and genomic testing for neurologic disease in clinical practice. Handbook of Clinical Neurology. 147: 11-22. PMID 29325607 DOI: 10.1016/B978-0-444-63233-3.00002-6 |
0.384 |
|
| 2017 |
Zambonin JL, Bellomo A, Ben-Pazi H, Everman DB, Frazer LM, Geraghty MT, Harper AD, Jones JR, Kamien B, Kernohan K, Koenig MK, Lines M, Palmer EE, Richardson R, Segel R, ... ... Fogel BL, et al. Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia. Orphanet Journal of Rare Diseases. 12: 121. PMID 28659154 DOI: 10.1186/S13023-017-0672-7 |
0.344 |
|
| 2016 |
Berto S, Usui N, Konopka G, Fogel BL. ELAVL2-regulated transcriptional and splicing networks in human neurons link neurodevelopment and autism. Human Molecular Genetics. PMID 27260404 DOI: 10.1093/Hmg/Ddw110 |
0.338 |
|
| 2016 |
Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, Pizzino A, Schmidt JL, Takanohashi A, Miller D, Khouzam A, Rajan V, Ramos E, Chowdhury S, Hambuch T, ... ... Fogel BL, et al. Whole exome sequencing in patients with white matter abnormalities. Annals of Neurology. PMID 27159321 DOI: 10.1002/Ana.24650 |
0.377 |
|
| 2015 |
Fogel BL, Lee H, Strom SP, Deignan JL, Nelson SF. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders. Annals of the New York Academy of Sciences. PMID 26250888 DOI: 10.1111/Nyas.12850 |
0.352 |
|
| 2015 |
Becherel OJ, Sun J, Yeo AJ, Nayler S, Fogel BL, Gao F, Coppola G, Criscuolo C, De Michele G, Wolvetang E, Lavin MF. A new model to study neurodegeneration in ataxia oculomotor apraxia type 2. Human Molecular Genetics. PMID 26231220 DOI: 10.1093/Hmg/Ddv296 |
0.352 |
|
| 2015 |
Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, et al. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nature Genetics. 47: 579-81. PMID 25938945 DOI: 10.1038/Ng.3289 |
0.342 |
|
| 2015 |
Fogel BL, Hanson SM, Becker EB. Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans? Movement Disorders : Official Journal of the Movement Disorder Society. 30: 284-6. PMID 25477146 DOI: 10.1002/Mds.26096 |
0.346 |
|
| 2014 |
Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. Jama. 312: 1880-7. PMID 25326637 DOI: 10.1001/Jama.2014.14604 |
0.358 |
|
| 2014 |
Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, Quintero-Rivera F, Vilain E, Grody WW, Perlman S, Geschwind DH, Nelson SF. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. Jama Neurology. 71: 1237-46. PMID 25133958 DOI: 10.1001/Jamaneurol.2014.1944 |
0.393 |
|
| 2014 |
Fogel BL, Clark MC, Geschwind DH. The neurogenetics of atypical parkinsonian disorders. Seminars in Neurology. 34: 217-24. PMID 24963681 DOI: 10.1055/S-0034-1381738 |
0.407 |
|
| 2014 |
Fogel BL, Cho E, Wahnich A, Gao F, Becherel OJ, Wang X, Fike F, Chen L, Criscuolo C, De Michele G, Filla A, Collins A, Hahn AF, Gatti RA, Konopka G, et al. Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2. Human Molecular Genetics. 23: 4758-69. PMID 24760770 DOI: 10.1093/Hmg/Ddu190 |
0.386 |
|
| 2013 |
Bill BR, Lowe JK, Dybuncio CT, Fogel BL. Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder. International Review of Neurobiology. 113: 251-67. PMID 24290388 DOI: 10.1016/B978-0-12-418700-9.00008-3 |
0.384 |
|
| 2013 |
Shakkottai VG, Fogel BL. Clinical neurogenetics: autosomal dominant spinocerebellar ataxia. Neurologic Clinics. 31: 987-1007. PMID 24176420 DOI: 10.1016/J.Ncl.2013.04.006 |
0.404 |
|
| 2013 |
Fogel BL, Vickrey BG, Walton-Wetzel J, Lieber E, Browner CH. Utilization of genetic testing prior to subspecialist referral for cerebellar ataxia. Genetic Testing and Molecular Biomarkers. 17: 588-94. PMID 23725007 DOI: 10.1089/Gtmb.2013.0005 |
0.329 |
|
| 2013 |
Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, ... ... Fogel B, et al. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Human Mutation. 34: 1160-71. PMID 23649844 DOI: 10.1002/Humu.22348 |
0.369 |
|
| 2013 |
Fogel BL, Baker C, Curnow A, Perlman SL, Geschwind DH, Coppola G. Mutations in PDYN are not responsible for multiple system atrophy. Journal of Neurology. 260: 927-8. PMID 23355175 DOI: 10.1007/S00415-012-6830-X |
0.403 |
|
| 2013 |
Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, ... ... Fogel BL, et al. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics. 14: 11-22. PMID 23334463 DOI: 10.1007/S10048-012-0349-2 |
0.397 |
|
| 2013 |
Cho E, Fogel BL. A family with spinocerebellar ataxia type 5 found to have a novel missense mutation within a SPTBN2 spectrin repeat. Cerebellum (London, England). 12: 162-4. PMID 22843192 DOI: 10.1007/S12311-012-0408-0 |
0.377 |
|
| 2012 |
Fogel BL, Pribadi M, Pi S, Perlman SL, Geschwind DH, Coppola G. C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxia. Movement Disorders : Official Journal of the Movement Disorder Society. 27: 1832-3. PMID 23080112 DOI: 10.1002/Mds.25245 |
0.395 |
|
| 2012 |
Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, et al. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Annals of Neurology. 72: 433-41. PMID 23034915 DOI: 10.1002/Ana.23598 |
0.373 |
|
| 2012 |
Fogel BL. Childhood cerebellar ataxia. Journal of Child Neurology. 27: 1138-45. PMID 22764177 DOI: 10.1177/0883073812448231 |
0.331 |
|
| 2012 |
Fogel BL, Wexler E, Wahnich A, Friedrich T, Vijayendran C, Gao F, Parikshak N, Konopka G, Geschwind DH. RBFOX1 regulates both splicing and transcriptional networks in human neuronal development. Human Molecular Genetics. 21: 4171-86. PMID 22730494 DOI: 10.1093/Hmg/Dds240 |
0.333 |
|
| 2012 |
Fogel BL, Lee JY, Lane J, Wahnich A, Chan S, Huang A, Osborn GE, Klein E, Mamah C, Perlman S, Geschwind DH, Coppola G. Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia. Movement Disorders : Official Journal of the Movement Disorder Society. 27: 442-6. PMID 22287014 DOI: 10.1002/Mds.24064 |
0.368 |
|
| 2012 |
Fogel B, Botros P. Copy Number Variation in the GBE1 Gene is not the Cause of Adult Polyglucosan Body Disease in a Symptomatic Heterozygote. (P05.031) Neurology. 78. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.031 |
0.414 |
|
| 2011 |
Becker EB, Fogel BL, Rajakulendran S, Dulneva A, Hanna MG, Perlman SL, Geschwind DH, Davies KE. Candidate screening of the TRPC3 gene in cerebellar ataxia. Cerebellum (London, England). 10: 296-9. PMID 21321808 DOI: 10.1007/S12311-011-0253-6 |
0.406 |
|
| 2009 |
Fogel BL, Lee JY, Perlman S. Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2. Cerebellum (London, England). 8: 448-53. PMID 19727998 DOI: 10.1007/S12311-009-0130-8 |
0.402 |
|
| 2008 |
Fogel BL, Young P, Thompson AR, Perlman S. A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes. Neurogenetics. 9: 215-8. PMID 18481121 DOI: 10.1007/S10048-008-0132-6 |
0.38 |
|
| 2007 |
Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. The Lancet. Neurology. 6: 245-57. PMID 17303531 DOI: 10.1016/S1474-4422(07)70054-6 |
0.386 |
|
| 2006 |
Fogel BL, Perlman S. Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2. Neurology. 67: 2083-4. PMID 17159128 DOI: 10.1212/01.Wnl.0000247661.19601.28 |
0.443 |
|
| 2006 |
Fogel B, Cardenas D, Ovbiagele B. Magnetic resonance imaging abnormalities in the corpus callosum of a patient with neuropsychiatric lupus. The Neurologist. 12: 271-3. PMID 16990741 DOI: 10.1097/01.Nrl.0000237119.00864.D7 |
0.306 |
|
| 2002 |
Fogel BL, McNally LM, McNally MT. Efficient polyadenylation of Rous sarcoma virus RNA requires the negative regulator of splicing element. Nucleic Acids Research. 30: 810-7. PMID 11809895 DOI: 10.1093/Nar/30.3.810 |
0.613 |
|
| 2000 |
Fogel BL, McNally MT. A cellular protein, hnRNP H, binds to the negative regulator of splicing element from Rous sarcoma virus. The Journal of Biological Chemistry. 275: 32371-8. PMID 10934202 DOI: 10.1074/Jbc.M005000200 |
0.599 |
|
| 2000 |
Fogel BL, McNally MT. Trace contamination following reuse of anion-exchange DNA purification resins. Biotechniques. 28: 299-302. PMID 10683741 DOI: 10.2144/00282Bf02 |
0.557 |
|
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