Publications

  1. Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL, Undiagnosed Diseases Network Members, Goldstein DB, Shashi V. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genet Med. 2017 Sep 14;:

  2. Valera JM, Diaz T, Petty LE, Quintáns B, Yáñez Z, Boerwinkle E, Muzny D, Akhmedov D, Berdeaux R, Sobrido MJ, Gibbs R, Lupski JR, Geschwind DH, Perlman S, Below JE, Fogel BL. Prevalence of spinocerebellar ataxia 36 in a US population. Neurol Genet. 2017 Aug;3(4):e174

  3. 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, Tarnopolsky M, Vanstone JR, Gibbons M, Collins A, Fogel BL, Care4Rare Canada Consortium, Dudding-Byth T, Boycott KM. Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia. Orphanet J Rare Dis. 2017 Jun 28;12(1):121

  4. Wolf SM, Thyagarajan B, Fogel BL. The need to develop a patient-centered precision medicine model for adults with chronic disability. Expert Rev Mol Diagn. 2017 May;17(5):415-418

  5. Berto S, Usui N, Konopka G, Fogel BL. ELAVL2-regulated transcriptional and splicing networks in human neurons link neurodevelopment and autism. Hum Mol Genet. 2016 Jun 15;25(12):2451-2464

  6. 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, Ru K, Baillie GJ, Grimmond SM, Caldovic L, Devaney J, Bloom M, Evans SH, Murphy JL, McNeill N, Fogel BL, Leukodystrophy Study Group, Schiffmann R, van der Knaap MS, Taft RJ. Whole exome sequencing in patients with white matter abnormalities. Ann Neurol. 2016 Jun;79(6):1031-7

  7. Fogel BL, Satya-Murti S, Cohen BH. Clinical exome sequencing in neurologic disease. Neurol Clin Pract. 2016 Apr;6(2):164-176

  8. Aranca TV, Jones TM, Shaw JD, Staffetti JS, Ashizawa T, Kuo SH, Fogel BL, Wilmot GR, Perlman SL, Onyike CU, Ying SH, Zesiewicz TA. Emerging therapies in Friedreich's ataxia. Neurodegener Dis Manag. 2016;6(1):49-65

  9. Fogel BL, Lee H, Strom SP, Deignan JL, Nelson SF. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders. Ann N Y Acad Sci. 2016 Feb;1366(1):49-60

  10. 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. Hum Mol Genet. 2015 Oct 15;24(20):5759-74

  11. 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, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nat Genet. 2015 Jun;47(6):579-81

  12. Fogel BL, Hanson SM, Becker EB. Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans? Mov Disord. 2015 Feb;30(2):284-6

  13. 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, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014 Nov 12;312(18):1880-7

  14. 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 Neurol. 2014 Oct;71(10):1237-46

  15. Fogel BL, Clark MC, Geschwind DH. The neurogenetics of atypical parkinsonian disorders. Semin Neurol. 2014 Apr;34(2):217-24

  16. 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, Perlman S, Lavin MF, Geschwind DH, Coppola G. Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2. Hum Mol Genet. 2014 Sep 15;23(18):4758-69

  17. Bill BR, Lowe JK, Dybuncio CT, Fogel BL. Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder. Int Rev Neurobiol. 2013;113:251-67

  18. Shakkottai VG, Fogel BL. Clinical neurogenetics: autosomal dominant spinocerebellar ataxia. Neurol Clin. 2013 Nov;31(4):987-1007

  19. Fogel BL, Vickrey BG, Walton-Wetzel J, Lieber E, Browner CH. Utilization of genetic testing prior to subspecialist referral for cerebellar ataxia. Genet Test Mol Biomarkers. 2013 Aug;17(8):588-94

  20. 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, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Hum Mutat. 2013 Aug;34(8):1160-71

  21. Fogel BL, Baker C, Curnow A, Perlman SL, Geschwind DH, Coppola G. Mutations in PDYN are not responsible for multiple system atrophy. J Neurol. 2013 Mar;260(3):927-8

  22. 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, Carmona O, Dobricić V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Janković M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostić V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novaković I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics. 2013 Feb;14(1):11-22

  23. Fogel BL, Pribadi M, Pi S, Perlman SL, Geschwind DH, Coppola G. C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxia. Mov Disord. 2012 Dec;27(14):1832-3

  24. 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, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol. 2012 Sep;72(3):433-41

  25. Cho E, Fogel BL. A family with spinocerebellar ataxia type 5 found to have a novel missense mutation within a SPTBN2 spectrin repeat. Cerebellum. 2013 Apr;12(2):162-4

  26. Fogel BL. Childhood cerebellar ataxia. J Child Neurol. 2012 Sep;27(9):1138-45

  27. 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. Hum Mol Genet. 2012 Oct 01;21(19):4171-86

  28. 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. Mov Disord. 2012 Mar;27(3):442-6

  29. Wexler E, Fogel BL. New-onset psychosis in a patient with spinocerebellar ataxia type 10. Am J Psychiatry. 2011 Dec;168(12):1339-40

  30. Fogel BL. Interpretation of genetic testing: variants of unknown significance. Continuum (Minneap Minn). 2011 Apr;17(2 Neurogenetics):347-52

  31. 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. 2011 Jun;10(2):296-9

  32. Fogel BL, Lee JY, Perlman S. Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2. Cerebellum. 2009 Dec;8(4):448-53

  33. Fogel BL, Young P, Thompson AR, Perlman S. A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes. Neurogenetics. 2008 Jul;9(3):215-8

  34. Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 2007 Mar;6(3):245-57

  35. Fogel BL, Perlman S. Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2. Neurology. 2006 Dec 12;67(11):2083-4

  36. Fogel BL, Perlman S. An approach to the patient with late-onset cerebellar ataxia. Nat Clin Pract Neurol. 2006 Nov;2(11):629-35; quiz 1 p following 635

  37. Fogel B, Cardenas D, Ovbiagele B. Magnetic resonance imaging abnormalities in the corpus callosum of a patient with neuropsychiatric lupus. Neurologist. 2006 Sep;12(5):271-3

  38. Fogel B, Wu M, Kremen S, Murthy K, Jackson G, Vanek Z. Creutzfeldt-Jakob disease presenting with alien limb sign. Mov Disord. 2006 Jul;21(7):1040-2

  39. Fogel BL, McNally LM, McNally MT. Efficient polyadenylation of Rous sarcoma virus RNA requires the negative regulator of splicing element. Nucleic Acids Res. 2002 Feb 01;30(3):810-7

  40. Fogel BL, McNally MT. A cellular protein, hnRNP H, binds to the negative regulator of splicing element from Rous sarcoma virus. J Biol Chem. 2000 Oct 13;275(41):32371-8

  41. Fogel BL, McNally MT. Trace contamination following reuse of anion-exchange DNA purification resins. Biotechniques. 2000 Feb;28(2):299-302