Cooper YA, Teyssier N, Dräger NM, Guo Q, Davis JE, Sattler SM, Yang Z, Patel A, Wu S, Kosuri S, Coppola G, Kampmann M, Geschwind DH. Functional regulatory variants implicate distinct transcriptional networks in dementia. Science. 2022 Aug 19;377(6608):eabi8654. doi: 10.1126/science.abi8654. Epub 2022 Aug 19. PMID: 35981026.

Kudos to Yoni Cooper for his paper developing and applying a pipeline for identifying and validating causal variants in GWAS loci, in this case for AD and PSP! Research highlighted in Nature Reviews Genetics 2022 and Nature Reviews Neurology 2022.

Gandal MJ, Haney JR, Wamsley B, Yap CX, Parhami S, Emani PS, Chang N, Chen GT, Hoftman GD, de Alba D, Ramaswami G, Hartl CL, Bhattacharya A, Luo C, Jin T, Wang D, Kawaguchi R, Quintero D, Ou J, Wu YE, Parikshak NN, Swarup V, Belgard TG, Gerstein M, Pasaniuc B, Geschwind DH. Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD. Nature. 2022 Nov;611(7936):532-539. doi: 10.1038/s41586-022-05377-7. Epub 2022 Nov 2. PMID: 36323788; PMCID: PMC9668748.

Largest study of the transcriptomic alterations in autism brain, shows pervasive changes.

Zhao XF, Huffman LD, Hafner H, Athaiya M, Finneran MC, Kalinski AL, Kohen R, Flynn C, Passino R, Johnson CN, Kohrman D, Kawaguchi R, Yang LJS, Twiss JL, Geschwind DH, Corfas G, Giger RJ. The injured sciatic nerve atlas (iSNAT), insights into the cellular and molecular basis of neural tissue degeneration and regeneration. Elife. 2022 Dec 14;11:e80881. doi: 10.7554/eLife.80881. PMID: 36515985; PMCID: PMC9829412.

Jacokes Z, Jack A, Sullivan CAW, Aylward E, Bookheimer SY, Dapretto M, Bernier RA, Geschwind DH, Sukhodolsky DG, McPartland JC, Webb SJ, Torgerson CM, Eilbott J, Kenworthy L, Pelphrey KA, Van Horn JD; GENDAAR Consortium. Linear discriminant analysis of phenotypic data for classifying autism spectrum disorder by diagnosis and sex. Front Neurosci. 2022 Nov 16;16:1040085. doi: 10.3389/fnins.2022.1040085. PMID: 36466170; PMCID: PMC9709432.

Johnson R, Ding Y, Venkateswaran V, Bhattacharya A, Boulier K, Chiu A, Knyazev S, Schwarz T, Freund M, Zhan L, Burch KS, Caggiano C, Hill B, Rakocz N, Balliu B, Denny CT, Sul JH, Zaitlen N, Arboleda VA, Halperin E, Sankararaman S, Butte MJ; UCLA Precision Health Data Discovery Repository Working Group, UCLA Precision Health ATLAS Working Group; Lajonchere C, Geschwind DH, Pasaniuc B. Author Correction: Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative. Genome Med. 2022 Nov 16;14(1):128. doi: 10.1186/s13073-022-01128-5. Erratum for: Genome Med. 2022 Sep 9;14(1):104. PMID: 36384576; PMCID: PMC9670414.

Butler-Laporte G, Povysil G, Kosmicki JA, Cirulli ET, Drivas T, …Geschwind DH, …Richards JB. Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. PLoS Genet. 2022 Nov 3;18(11):e1010367. doi: 10.1371/journal.pgen.1010367. PMID: 36327219; PMCID: PMC9632827.

Cooper YA, Guo Q, Geschwind DH. Multiplexed functional genomic assays to decipher the noncoding genome. Hum Mol Genet. 2022 Oct 20;31(R1):R84-R96. doi: 10.1093/hmg/ddac194. PMID: 36057282; PMCID: PMC9585676.

Muthukrishnan SD, Kawaguchi R, Nair P, Prasad R, Qin Y, Johnson M, Wang Q, VanderVeer-Harris N, Pham A, Alvarado AG, Condro MC, Gao F, Gau R, Castro MG, Lowenstein PR, Deb A, Hinman JD, Pajonk F, Burns TC, Goldman SA, Geschwind DH, Kornblum HI. P300 promotes tumor recurrence by regulating radiation-induced conversion of glioma stem cells to vascular-like cells. Nat Commun. 2022 Oct 19;13(1):6202. doi: 10.1038/s41467-022-33943-0. PMID: 36261421; PMCID: PMC9582000.

Zhou W, Kanai M, Wu KH, Rasheed H, Tsuo K, …Geschwind DH, …Neale BM. Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease. Cell Genom. 2022 Oct 12;2(10):100192. doi: 10.1016/j.xgen.2022.100192. PMID: 36777996; PMCID: PMC9903716.

Au NPB, Kumar G, Asthana P, Gao F, Kawaguchi R, Chang RCC, So KF, Hu Y, Geschwind DH, Coppola G, Ma CHE. Clinically relevant small-molecule promotes nerve repair and visual function recovery. NPJ Regen Med. 2022 Oct 1;7(1):50. doi: 10.1038/s41536-022-00233-8. PMID: 36182946; PMCID: PMC9526721.