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G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy.
Ozelius LJ, Foroud T, May S, Senthil G, Sandroni P, Low PA, Reich S, Colcher A, Stern MB, Ondo WG, Jankovic J, Huang N, Tanner CM, Novak P, Gilman S, Marshall FJ, Wooten GF, Chelimsky TC, Shults CW; North American Multiple System Atrophy Study Group. Ozelius LJ, et al. Among authors: senthil g. Mov Disord. 2007 Mar 15;22(4):546-9. doi: 10.1002/mds.21343. Mov Disord. 2007. PMID: 17230458 Free article.
LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews.
Ozelius LJ, Senthil G, Saunders-Pullman R, Ohmann E, Deligtisch A, Tagliati M, Hunt AL, Klein C, Henick B, Hailpern SM, Lipton RB, Soto-Valencia J, Risch N, Bressman SB. Ozelius LJ, et al. Among authors: senthil g. N Engl J Med. 2006 Jan 26;354(4):424-5. doi: 10.1056/NEJMc055509. N Engl J Med. 2006. PMID: 16436782 No abstract available.
Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites.
Saunders-Pullman R, Raymond D, Senthil G, Kramer P, Ohmann E, Deligtisch A, Shanker V, Greene P, Tabamo R, Huang N, Tagliati M, Kavanagh P, Soto-Valencia J, Aguiar Pde C, Risch N, Ozelius L, Bressman S. Saunders-Pullman R, et al. Among authors: senthil g. Am J Med Genet A. 2007 Sep 15;143A(18):2098-105. doi: 10.1002/ajmg.a.31887. Am J Med Genet A. 2007. PMID: 17702011
Functional annotation of rare structural variation in the human brain.
Han L, Zhao X, Benton ML, Perumal T, Collins RL, Hoffman GE, Johnson JS, Sloofman L, Wang HZ, Stone MR; CommonMind Consortium; Brennand KJ, Brand H, Sieberts SK, Marenco S, Peters MA, Lipska BK, Roussos P, Capra JA, Talkowski M, Ruderfer DM. Han L, et al. Nat Commun. 2020 Jun 12;11(1):2990. doi: 10.1038/s41467-020-16736-1. Nat Commun. 2020. PMID: 32533064 Free PMC article.
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM; Autism Sequencing Consortium; Church GM, Scherer SW, Buxbaum JD, Walsh CA. Lim ET, et al. Nat Neurosci. 2017 Sep;20(9):1217-1224. doi: 10.1038/nn.4598. Epub 2017 Jul 17. Nat Neurosci. 2017. PMID: 28714951 Free PMC article.
Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions.
Sieberts SK, Perumal TM, Carrasquillo MM, Allen M, Reddy JS, Hoffman GE, Dang KK, Calley J, Ebert PJ, Eddy J, Wang X, Greenwood AK, Mostafavi S; CommonMind Consortium (CMC); The AMP-AD Consortium; Omberg L, Peters MA, Logsdon BA, De Jager PL, Ertekin-Taner N, Mangravite LM. Sieberts SK, et al. Sci Data. 2020 Oct 12;7(1):340. doi: 10.1038/s41597-020-00642-8. Sci Data. 2020. PMID: 33046718 Free PMC article.
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.
Rodin RE, Dou Y, Kwon M, Sherman MA, D'Gama AM, Doan RN, Rento LM, Girskis KM, Bohrson CL, Kim SN, Nadig A, Luquette LJ, Gulhan DC; Brain Somatic Mosaicism Network; Park PJ, Walsh CA. Rodin RE, et al. Nat Neurosci. 2021 Feb;24(2):176-185. doi: 10.1038/s41593-020-00765-6. Epub 2021 Jan 11. Nat Neurosci. 2021. PMID: 33432195 Free PMC article.
Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.
Rodin RE, Dou Y, Kwon M, Sherman MA, D'Gama AM, Doan RN, Rento LM, Girskis KM, Bohrson CL, Kim SN, Nadig A, Luquette LJ, Gulhan DC; Brain Somatic Mosaicism Network; Park PJ, Walsh CA. Rodin RE, et al. Nat Neurosci. 2021 Apr;24(4):611. doi: 10.1038/s41593-021-00830-8. Nat Neurosci. 2021. PMID: 33753946 Free PMC article. No abstract available.
52 results