Publications

2022

Challenges and opportunities for precision medicine in neurodevelopmental disorders

Chen GT, Geschwind DH. Challenges and opportunities for precision medicine in neurodevelopmental disorders. Adv Drug Deliv Rev. 2022 Dec;191:114564. doi: 10.1016/j.addr.2022.114564. Epub 2022 Sep 29. PMID: 36183905.

Pathway-based approach reveals differential sensitivity to E2F1 inhibition in glioblastoma

Alvarado AG, Tessema K, Muthukrishnan SD, Sober M, Kawaguchi R, Laks DR, Bhaduri A, Swarup V, Nathanson DA, Geschwind DH, Goldman SA, Kornblum HI. Pathway-based approach reveals differential sensitivity to E2F1 inhibition in glioblastoma. Cancer Res Commun. 2022 Sep;2(9):1049-1060. doi: 10.1158/2767-9764.crc-22-0003. Epub 2022 Sep 22. PMID: 36213002; PMCID: PMC9536135.

Transcriptomic architecture of nuclei in the marmoset CNS

Lin JP, Kelly HM, Song Y, Kawaguchi R, Geschwind DH, Jacobson S, Reich DS. Transcriptomic architecture of nuclei in the marmoset CNS. Nat Commun. 2022 Sep 21;13(1):5531. doi: 10.1038/s41467-022-33140-z. PMID: 36130924; PMCID: PMC9492672.

Differences in Motor Features of C9orf72, MAPT, or GRN Variant Carriers With Familial Frontotemporal Lobar Degeneration

Tipton PW, Deutschlaender AB, Savica R, Heckman MG, Brushaber DE, Dickerson BC, Gavrilova RH, Geschwind DH, Ghoshal N, Graff-Radford J, Graff-Radford NR, Grossman M, Hsiung GR, Huey ED, Irwin DJ, Jones DT, Knopman DS, McGinnis SM, Rademakers R, Ramos EM, Forsberg LK, Heuer HW, Onyike C, Tartaglia C, Domoto-Reilly K, Roberson ED, Mendez MF, Litvan I, Appleby BS, Grant I, Kaufer D, Boxer AL, Rosen HJ, Boeve BF, Wszolek ZK; ALLFTD Consortium. Differences in Motor Features of C9orf72, MAPT, or GRN Variant Carriers With Familial Frontotemporal Lobar Degeneration. Neurology. 2022 Sep 13;99(11):e1154-e1167. doi: 10.1212/WNL.0000000000200860. Epub 2022 Jul 5. PMID: 35790423; PMCID: PMC9536745.

Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative

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. Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative. Genome Med. 2022 Sep 9;14(1):104. doi: 10.1186/s13073-022-01106-x. Erratum in: Genome Med. 2022 Nov 16;14(1):128. PMID: 36085083; PMCID: PMC9461263.

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O’Roak BJ, Geschwind DH; SPARK Consortium; Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nat Genet. 2022 Sep;54(9):1305-1319. doi: 10.1038/s41588-022-01148-2. Epub 2022 Aug 18. PMID: 35982159; PMCID: PMC9470534.

Core transcription programs controlling injury-induced neurodegeneration of retinal ganglion cells

Tian F, Cheng Y, Zhou S, Wang Q, Monavarfeshani A, Gao K, Jiang W, Kawaguchi R, Wang Q, Tang M, Donahue R, Meng H, Zhang Y, Jacobi A, Yan W, Yin J, Cai X, Yang Z, Hegarty S, Stanicka J, Dmitriev P, Taub D, Zhu J, Woolf CJ, Sanes JR, Geschwind DH, He Z. Core transcription programs controlling injury-induced neurodegeneration of retinal ganglion cells. Neuron. 2022 Aug 17;110(16):2607-2624.e8. doi: 10.1016/j.neuron.2022.06.003. Epub 2022 Jun 28. Erratum in: Neuron. 2023 Feb 1;111(3):444. PMID: 35767995; PMCID: PMC9391318.

Transcription factor network analysis identifies REST/NRSF as an intrinsic regulator of CNS regeneration in mice

Cheng Y, Yin Y, Zhang A, Bernstein AM, Kawaguchi R, Gao K, Potter K, Gilbert HY, Ao Y, Ou J, Fricano-Kugler CJ, Goldberg JL, He Z, Woolf CJ, Sofroniew MV, Benowitz LI, Geschwind DH. Transcription factor network analysis identifies REST/NRSF as an intrinsic regulator of CNS regeneration in mice. Nat Commun. 2022 Jul 29;13(1):4418. doi: 10.1038/s41467-022-31960-7. PMID: 35906210; PMCID: PMC9338053.

Methods for culturing adult CNS neurons reveal a CNS conditioning effect

van Niekerk EA, Kawaguchi R, Marques de Freria C, Groeniger K, Marchetto MC, Dupraz S, Bradke F, Geschwind DH, Gage FH, Tuszynski MH. Methods for culturing adult CNS neurons reveal a CNS conditioning effect. Cell Rep Methods. 2022 Jul 18;2(7):100255. doi: 10.1016/j.crmeth.2022.100255. PMID: 35880023; PMCID: PMC9308166.

Case Report: Novel CSF1R Variant in a Patient With Behavioral Variant Frontotemporal Dementia Syndrome With Prodromal Repetitive Scratching Behavior

Friedberg A, Ramos EM, Yang Z, Bonham LW, Yokoyama JS, Ljubenkov PA, Younes K, Geschwind DH, Miller BL. Case Report: Novel CSF1R Variant in a Patient With Behavioral Variant Frontotemporal Dementia Syndrome With Prodromal Repetitive Scratching Behavior. Front Neurol. 2022 Jun 22;13:909944. doi: 10.3389/fneur.2022.909944. PMID: 35812083; PMCID: PMC9256970.