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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2013 1
2014 5
2015 4
2016 5
2017 3
2018 4
2019 5
2020 3
2021 3
2024 0

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29 results

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Page 1
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
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. Lee H, et al. JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604. JAMA. 2014. PMID: 25326637 Free PMC article.
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
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, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC; Undiagnosed Diseases Network; Palmer CGS, Martinez-Agosto JA, Nelson SF. Lee H, et al. Genet Med. 2020 Mar;22(3):490-499. doi: 10.1038/s41436-019-0672-1. Epub 2019 Oct 14. Genet Med. 2020. PMID: 31607746 Free PMC article.
α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson's disease from multiple system atrophy.
Dutta S, Hornung S, Kruayatidee A, Maina KN, Del Rosario I, Paul KC, Wong DY, Duarte Folle A, Markovic D, Palma JA, Serrano GE, Adler CH, Perlman SL, Poon WW, Kang UJ, Alcalay RN, Sklerov M, Gylys KH, Kaufmann H, Fogel BL, Bronstein JM, Ritz B, Bitan G. Dutta S, et al. Acta Neuropathol. 2021 Sep;142(3):495-511. doi: 10.1007/s00401-021-02324-0. Epub 2021 May 15. Acta Neuropathol. 2021. PMID: 33991233 Free PMC article.
Emerging therapies in Friedreich's ataxia.
Aranca TV, Jones TM, Shaw JD, Staffetti JS, Ashizawa T, Kuo SH, Fogel BL, Wilmot GR, Perlman SL, Onyike CU, Ying SH, Zesiewicz TA. Aranca TV, et al. Neurodegener Dis Manag. 2016;6(1):49-65. doi: 10.2217/nmt.15.73. Neurodegener Dis Manag. 2016. PMID: 26782317 Free PMC article. Review.
Clinical exome sequencing in neurologic disease.
Fogel BL, Satya-Murti S, Cohen BH. Fogel BL, et al. Neurol Clin Pract. 2016 Apr;6(2):164-176. doi: 10.1212/CPJ.0000000000000239. Neurol Clin Pract. 2016. PMID: 27104068 Free PMC article. Review.
The neurogenetics of atypical parkinsonian disorders.
Fogel BL, Clark MC, Geschwind DH. Fogel BL, et al. Semin Neurol. 2014 Apr;34(2):217-24. doi: 10.1055/s-0034-1381738. Epub 2014 Jun 25. Semin Neurol. 2014. PMID: 24963681 Free PMC article. Review.
Prevalence of spinocerebellar ataxia 36 in a US population.
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. Valera JM, et al. Neurol Genet. 2017 Jul 18;3(4):e174. doi: 10.1212/NXG.0000000000000174. eCollection 2017 Aug. Neurol Genet. 2017. PMID: 28761930 Free PMC article.
29 results