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Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy.
Chen Z, Chen JA, Shatunov A, Jones AR, Kravitz SN, Huang AY, Lawrence L, Lowe JK, Lewis CM, Payan CAM, Lieb W, Franke A, Deloukas P, Amouyel P, Tzourio C, Dartigues JF; NNIPPS and BBBIPPS Study Groups; Ludolph A, Bensimon G, Leigh PN, Bronstein JM, Coppola G, Geschwind DH, Al-Chalabi A. Chen Z, et al. Among authors: lowe jk. Mov Disord. 2019 Jul;34(7):1049-1059. doi: 10.1002/mds.27702. Epub 2019 May 6. Mov Disord. 2019. PMID: 31059154
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
Cross-Disorder Group of the Psychiatric Genomics Consortium; Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, Andreassen OA, Anjorin A, Anney R, Anttila V, Arking DE, Asherson P, Azevedo MH, Backlund L, Badner JA, Bailey AJ, Banaschewski T, Barchas JD, Barnes MR, Barrett TB, Bass N, Battaglia A, Bauer M, Bayés M, Bellivier F, Bergen SE, Berrettini W, Betancur C, Bettecken T, Biederman J, Binder EB, Black DW, Blackwood DH, Bloss CS, Boehnke M, Boomsma DI, Breen G, Breuer R, Bruggeman R, Cormican P, Buccola NG, Buitelaar JK, Bunney WE, Buxbaum JD, Byerley WF, Byrne EM, Caesar S, Cahn W, Cantor RM, Casas M, Chakravarti A, Chambert K, Choudhury K, Cichon S, Cloninger CR, Collier DA, Cook EH, Coon H, Cormand B, Corvin A, Coryell WH, Craig DW, Craig IW, Crosbie J, Cuccaro ML, Curtis D, Czamara D, Datta S, Dawson G, Day R, De Geus EJ, Degenhardt F, Djurovic S, Donohoe GJ, Doyle AE, Duan J, Dudbridge F, Duketis E, Ebstein RP, Edenberg HJ, Elia J, Ennis S, Etain B, Fanous A, Farmer AE, Ferrier IN, Flickinger M, Fombonne E, Foroud T, Frank J, Franke B, Fraser C, Freedman R, Freimer NB, Freitag CM, Fri… See abstract for full author list ➔ Cross-Disorder Group of the Psychiatric Genomics Consortium, et al. Among authors: lowe jk. Nat Genet. 2013 Sep;45(9):984-94. doi: 10.1038/ng.2711. Epub 2013 Aug 11. Nat Genet. 2013. PMID: 23933821 Free PMC article.
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders.
Correia CT, Conceição IC, Oliveira B, Coelho J, Sousa I, Sequeira AF, Almeida J, Café C, Duque F, Mouga S, Roberts W, Gao K, Lowe JK, Thiruvahindrapuram B, Walker S, Marshall CR, Pinto D, Nurnberger JI, Scherer SW, Geschwind DH, Oliveira G, Vicente AM. Correia CT, et al. Among authors: lowe jk. Mol Autism. 2014 Apr 10;5(1):28. doi: 10.1186/2040-2392-5-28. Mol Autism. 2014. PMID: 24720851 Free PMC article.
Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.
Chaste P, Sanders SJ, Mohan KN, Klei L, Song Y, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Martin CL, Devlin B, Beaudet AL, Cook EH Jr, Kim SJ. Chaste P, et al. Among authors: lowe jk. Autism Res. 2014 Jun;7(3):355-62. doi: 10.1002/aur.1378. Epub 2014 May 12. Autism Res. 2014. PMID: 24821083 Free PMC article.
A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?
Chaste P, Klei L, Sanders SJ, Hus V, Murtha MT, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, Lese Martin C, Beaudet AL, Lord C, State MW, Cook EH Jr, Devlin B. Chaste P, et al. Among authors: lowe jk. Biol Psychiatry. 2015 May 1;77(9):775-84. doi: 10.1016/j.biopsych.2014.09.017. Epub 2014 Sep 30. Biol Psychiatry. 2015. PMID: 25534755 Free PMC article.
Evidence for α-synuclein prions causing multiple system atrophy in humans with parkinsonism.
Prusiner SB, Woerman AL, Mordes DA, Watts JC, Rampersaud R, Berry DB, Patel S, Oehler A, Lowe JK, Kravitz SN, Geschwind DH, Glidden DV, Halliday GM, Middleton LT, Gentleman SM, Grinberg LT, Giles K. Prusiner SB, et al. Among authors: lowe jk. Proc Natl Acad Sci U S A. 2015 Sep 22;112(38):E5308-17. doi: 10.1073/pnas.1514475112. Epub 2015 Aug 31. Proc Natl Acad Sci U S A. 2015. PMID: 26324905 Free PMC article.
75 results