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Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.
Bedoyan JK, Schaibley VM, Peng W, Bai Y, Mondal K, Shetty AC, Durham M, Micucci JA, Dhiraaj A, Skidmore JM, Kaplan JB, Skinner C, Schwartz CE, Antonellis A, Zwick ME, Cavalcoli JD, Li JZ, Martin DM. Bedoyan JK, et al. Among authors: li jz. J Med Genet. 2012 May;49(5):332-40. doi: 10.1136/jmedgenet-2011-100575. J Med Genet. 2012. PMID: 22581972 Free PMC article.
Decade-long bacterial community dynamics in cystic fibrosis airways.
Zhao J, Schloss PD, Kalikin LM, Carmody LA, Foster BK, Petrosino JF, Cavalcoli JD, VanDevanter DR, Murray S, Li JZ, Young VB, LiPuma JJ. Zhao J, et al. Among authors: li jz. Proc Natl Acad Sci U S A. 2012 Apr 10;109(15):5809-14. doi: 10.1073/pnas.1120577109. Epub 2012 Mar 26. Proc Natl Acad Sci U S A. 2012. PMID: 22451929 Free PMC article.
Long runs of homozygosity are enriched for deleterious variation.
Szpiech ZA, Xu J, Pemberton TJ, Peng W, Zöllner S, Rosenberg NA, Li JZ. Szpiech ZA, et al. Among authors: li jz. Am J Hum Genet. 2013 Jul 11;93(1):90-102. doi: 10.1016/j.ajhg.2013.05.003. Epub 2013 Jun 6. Am J Hum Genet. 2013. PMID: 23746547 Free PMC article.
G protein-linked signaling pathways in bipolar and major depressive disorders.
Tomita H, Ziegler ME, Kim HB, Evans SJ, Choudary PV, Li JZ, Meng F, Dai M, Myers RM, Neal CR, Speed TP, Barchas JD, Schatzberg AF, Watson SJ, Akil H, Jones EG, Bunney WE, Vawter MP. Tomita H, et al. Among authors: li jz. Front Genet. 2013 Dec 23;4:297. doi: 10.3389/fgene.2013.00297. eCollection 2013. Front Genet. 2013. PMID: 24391664 Free PMC article.
PRICKLE2 Mutations Might Not Be Involved in Epilepsy.
Sandford E, Bird TD, Li JZ, Burmeister M. Sandford E, et al. Among authors: li jz. Am J Hum Genet. 2016 Mar 3;98(3):588-589. doi: 10.1016/j.ajhg.2016.01.009. Am J Hum Genet. 2016. PMID: 26942291 Free PMC article. No abstract available.
Genome-wide association study identifies 30 loci associated with bipolar disorder.
Stahl EA, Breen G, Forstner AJ, McQuillin A, Ripke S, Trubetskoy V, Mattheisen M, Wang Y, Coleman JRI, Gaspar HA, de Leeuw CA, Steinberg S, Pavlides JMW, Trzaskowski M, Byrne EM, Pers TH, Holmans PA, Richards AL, Abbott L, Agerbo E, Akil H, Albani D, Alliey-Rodriguez N, Als TD, Anjorin A, Antilla V, Awasthi S, Badner JA, Bækvad-Hansen M, Barchas JD, Bass N, Bauer M, Belliveau R, Bergen SE, Pedersen CB, Bøen E, Boks MP, Boocock J, Budde M, Bunney W, Burmeister M, Bybjerg-Grauholm J, Byerley W, Casas M, Cerrato F, Cervantes P, Chambert K, Charney AW, Chen D, Churchhouse C, Clarke TK, Coryell W, Craig DW, Cruceanu C, Curtis D, Czerski PM, Dale AM, de Jong S, Degenhardt F, Del-Favero J, DePaulo JR, Djurovic S, Dobbyn AL, Dumont A, Elvsåshagen T, Escott-Price V, Fan CC, Fischer SB, Flickinger M, Foroud TM, Forty L, Frank J, Fraser C, Freimer NB, Frisén L, Gade K, Gage D, Garnham J, Giambartolomei C, Pedersen MG, Goldstein J, Gordon SD, Gordon-Smith K, Green EK, Green MJ, Greenwood TA, Grove J, Guan W, Guzman-Parra J, Hamshere ML, Hautzinger M, Heilbronner U, Herms S, Hipolito M, Hoffmann P, Holland D, Huckins L, Jamain S, Johnson JS, Juréus A, Kandaswamy R, Karlsson R, Kennedy JL, Kitt… See abstract for full author list ➔ Stahl EA, et al. Among authors: li jz, li qs. Nat Genet. 2019 May;51(5):793-803. doi: 10.1038/s41588-019-0397-8. Epub 2019 May 1. Nat Genet. 2019. PMID: 31043756 Free PMC article.
1,117 results