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Page 1
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group, PLS COSMOS Study Group, GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. Res Sq [Preprint]. 2023 Dec 21:rs.3.rs-3721598. doi: 10.21203/rs.3.rs-3721598/v1. Res Sq. 2023. PMID: 38196621 Free PMC article. Preprint.
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group; PLS COSMOS Study Group; GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. medRxiv [Preprint]. 2023 Oct 23:2023.09.30.23296353. doi: 10.1101/2023.09.30.23296353. medRxiv. 2023. PMID: 37873269 Free PMC article. Preprint.
Identifying nootropic drug targets via large-scale cognitive GWAS and transcriptomics.
Lam M, Chen CY, Ge T, Xia Y, Hill DW, Trampush JW, Yu J, Knowles E, Davies G, Stahl EA, Huckins L, Liewald DC, Djurovic S, Melle I, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Hartmann AM, Roussos P, Giakoumaki S, Burdick KE, Payton A, Ollier W, Chiba-Falek O, Koltai DC, Need AC, Cirulli ET, Voineskos AN, Stefanis NC, Avramopoulos D, Hatzimanolis A, Smyrnis N, Bilder RM, Freimer NB, Cannon TD, London E, Poldrack RA, Sabb FW, Congdon E, Conley ED, Scult MA, Dickinson D, Straub RE, Donohoe G, Morris D, Corvin A, Gill M, Hariri AR, Weinberger DR, Pendleton N, Bitsios P, Rujescu D, Lahti J, Le Hellard S, Keller MC, Andreassen OA, Deary IJ, Glahn DC, Huang H, Liu C, Malhotra AK, Lencz T. Lam M, et al. Neuropsychopharmacology. 2021 Sep;46(10):1788-1801. doi: 10.1038/s41386-021-01023-4. Epub 2021 May 25. Neuropsychopharmacology. 2021. PMID: 34035472 Free PMC article.
Diverse genetic causes of polymicrogyria with epilepsy.
Epilepsy Phenome/Genome Project, Epi4K Consortium. Epilepsy Phenome/Genome Project, Epi4K Consortium. Epilepsia. 2021 Apr;62(4):973-983. doi: 10.1111/epi.16854. Epub 2021 Apr 5. Epilepsia. 2021. PMID: 33818783 Free PMC article.
Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.
Raghavan NS, Brickman AM, Andrews H, Manly JJ, Schupf N, Lantigua R, Wolock CJ, Kamalakaran S, Petrovski S, Tosto G, Vardarajan BN, Goldstein DB, Mayeux R; Alzheimer's Disease Sequencing Project. Raghavan NS, et al. Ann Clin Transl Neurol. 2018 May 24;5(7):832-842. doi: 10.1002/acn3.582. eCollection 2018 Jul. Ann Clin Transl Neurol. 2018. PMID: 30009200 Free PMC article.
Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.
Savage JE, Jansen PR, Stringer S, Watanabe K, Bryois J, de Leeuw CA, Nagel M, Awasthi S, Barr PB, Coleman JRI, Grasby KL, Hammerschlag AR, Kaminski JA, Karlsson R, Krapohl E, Lam M, Nygaard M, Reynolds CA, Trampush JW, Young H, Zabaneh D, Hägg S, Hansell NK, Karlsson IK, Linnarsson S, Montgomery GW, Muñoz-Manchado AB, Quinlan EB, Schumann G, Skene NG, Webb BT, White T, Arking DE, Avramopoulos D, Bilder RM, Bitsios P, Burdick KE, Cannon TD, Chiba-Falek O, Christoforou A, Cirulli ET, Congdon E, Corvin A, Davies G, Deary IJ, DeRosse P, Dickinson D, Djurovic S, Donohoe G, Conley ED, Eriksson JG, Espeseth T, Freimer NA, Giakoumaki S, Giegling I, Gill M, Glahn DC, Hariri AR, Hatzimanolis A, Keller MC, Knowles E, Koltai D, Konte B, Lahti J, Le Hellard S, Lencz T, Liewald DC, London E, Lundervold AJ, Malhotra AK, Melle I, Morris D, Need AC, Ollier W, Palotie A, Payton A, Pendleton N, Poldrack RA, Räikkönen K, Reinvang I, Roussos P, Rujescu D, Sabb FW, Scult MA, Smeland OB, Smyrnis N, Starr JM, Steen VM, Stefanis NC, Straub RE, Sundet K, Tiemeier H, Voineskos AN, Weinberger DR, Widen E, Yu J, Abecasis G, Andreassen OA, Breen G, Christiansen L, Debrabant B, Dick DM, Heinz A, Hjerling-Leffle… See abstract for full author list ➔ Savage JE, et al. Nat Genet. 2018 Jul;50(7):912-919. doi: 10.1038/s41588-018-0152-6. Epub 2018 Jun 25. Nat Genet. 2018. PMID: 29942086 Free PMC article.
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M; Epi4K Consortium; Epilepsy Phenome/Genome Project. Heinzen EL, et al. PLoS Genet. 2018 May 8;14(5):e1007281. doi: 10.1371/journal.pgen.1007281. eCollection 2018 May. PLoS Genet. 2018. PMID: 29738522 Free PMC article.
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.
Winawer MR, Griffin NG, Samanamud J, Baugh EH, Rathakrishnan D, Ramalingam S, Zagzag D, Schevon CA, Dugan P, Hegde M, Sheth SA, McKhann GM, Doyle WK, Grant GA, Porter BE, Mikati MA, Muh CR, Malone CD, Bergin AMR, Peters JM, McBrian DK, Pack AM, Akman CI, LaCoursiere CM, Keever KM, Madsen JR, Yang E, Lidov HGW, Shain C, Allen AS, Canoll PD, Crino PB, Poduri AH, Heinzen EL. Winawer MR, et al. Ann Neurol. 2018 Jun;83(6):1133-1146. doi: 10.1002/ana.25243. Epub 2018 May 16. Ann Neurol. 2018. PMID: 29679388 Free PMC article.
Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.
Lam M, Trampush JW, Yu J, Knowles E, Davies G, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Roussos P, Giakoumaki S, Burdick KE, Payton A, Ollier W, Chiba-Falek O, Attix DK, Need AC, Cirulli ET, Voineskos AN, Stefanis NC, Avramopoulos D, Hatzimanolis A, Arking DE, Smyrnis N, Bilder RM, Freimer NA, Cannon TD, London E, Poldrack RA, Sabb FW, Congdon E, Conley ED, Scult MA, Dickinson D, Straub RE, Donohoe G, Morris D, Corvin A, Gill M, Hariri AR, Weinberger DR, Pendleton N, Bitsios P, Rujescu D, Lahti J, Le Hellard S, Keller MC, Andreassen OA, Deary IJ, Glahn DC, Malhotra AK, Lencz T. Lam M, et al. Cell Rep. 2017 Nov 28;21(9):2597-2613. doi: 10.1016/j.celrep.2017.11.028. Cell Rep. 2017. PMID: 29186694 Free PMC article.
24 results