Publications

Nav1.7 gain-of-function mutation I228M triggers age-dependent nociceptive insensitivity and C-LTMR dysregulation

Wimalasena NK, Taub DG, Shim J, Hakim S, Kawaguchi R, Chen L, El-Rifai M, Geschwind DH, Dib-Hajj SD, Waxman SG, Woolf CJ. Nav1.7 gain-of-function mutation I228M triggers age-dependent nociceptive insensitivity and C-LTMR dysregulation. Exp Neurol. 2023 Jun;364:114393. doi: 10.1016/j.expneurol.2023.114393. Epub 2023 Mar 30. PMID: 37003485; PMCID: PMC10171359.

Increased Striatal Presynaptic Dopamine in a Nonhuman Primate Model of Maternal Immune Activation: A Longitudinal Neurodevelopmental Positron Emission Tomography Study With Implications for Schizophrenia

Smucny J, Vlasova RM, Lesh TA, Rowland DJ, Wang G, Chaudhari AJ, Chen S, Iosif AM, Hogrefe CE, Bennett JL, Shumann CM, Van de Water JA, Maddock RJ, Styner MA, Geschwind DH, McAllister AK, Bauman MD, Carter CS. Increased Striatal Presynaptic Dopamine in a Nonhuman Primate Model of Maternal Immune Activation: A Longitudinal Neurodevelopmental Positron Emission Tomography Study With Implications for Schizophrenia. Biol Psychiatry Cogn Neurosci Neuroimaging. 2023 May;8(5):505-513. doi: 10.1016/j.bpsc.2022.10.012. Epub 2022 Nov 17. PMID: 36805246; PMCID: PMC10164700.

Functional regulatory variants implicate distinct transcriptional networks in dementia

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.

Prospects for Leveling the Playing Field for Black Children With Autism

Constantino JN, Abbacchi AM, May BK, Klaiman C, Zhang Y, Lowe JK, Marrus N, Klin A, Geschwind DH. Prospects for Leveling the Playing Field for Black Children With Autism. J Am Acad Child Adolesc Psychiatry. 2023 May 11:S0890-8567(23)00243-5. doi: 10.1016/j.jaac.2023.05.005. Epub ahead of print. PMID: 37196781.

Important work from our ACE network on eliminating disparities in outcomes for Black children with Autism.

Characterization of gene regulatory elements in human fetal cortical development: Enhancing our understanding of neurodevelopmental disorders and evolution

Guo Q, Wu S, Geschwind DH. Characterization of gene regulatory elements in human fetal cortical development: Enhancing our understanding of neurodevelopmental disorders and evolution. Dev Neurosci. 2023 May 10. doi: 10.1159/000530929. Epub ahead of print. PMID: 37231806.

A neural stem cell paradigm of pediatric hydrocephalus

Duy PQ, Rakic P, Alper SL, Robert SM, Kundishora AJ, Butler WE, Walsh CA, Sestan N, Geschwind DH, Jin SC, Kahle KT. A neural stem cell paradigm of pediatric hydrocephalus. Cereb Cortex. 2023 Apr 4;33(8):4262-4279. doi: 10.1093/cercor/bhac341. PMID: 36097331; PMCID: PMC10110448.

Prevalence, Timing, and Network Localization of Emergent Visual Creativity in Frontotemporal Dementia

Friedberg A, Pasquini L, Diggs R, Glaubitz EA, Lopez L, Illán-Gala I, Iaccarino L, La Joie R, Mundada N, Knudtson M, Neylan K, Brown J, Allen IE, Rankin KP, Bonham LW, Yokoyama JS, Ramos EM, Geschwind DH, Spina S, Grinberg LT, Miller ZA, Kramer JH, Rosen H, Gorno-Tempini ML, Rabinovici G, Seeley WW, Miller BL. Prevalence, Timing, and Network Localization of Emergent Visual Creativity in Frontotemporal Dementia. JAMA Neurol. 2023 Apr 1;80(4):377-387. doi: 10.1001/jamaneurol.2023.0001. PMID: 36848111; PMCID: PMC9972248.

Neuronal protein interaction networks in autism spectrum disorder

Bicks LK, Eyring KW, Geschwind DH. Neuronal protein interaction networks in autism spectrum disorder. Cell Genom. 2023 Mar 8;3(3):100279. doi: 10.1016/j.xgen.2023.100279. PMID: 36950377; PMCID: PMC10025519.

Cross-ancestry, cell-type-informed atlas of gene, isoform, and splicing regulation in the developing human brain

Wen C, Margolis M, Dai R, Zhang P, Przytycki PF, Vo DD, Bhattacharya A, Kim M, Matoba N, Tsai E, Hoh C, Jiao C, Aygun N, Walker RL, Chatzinakos C, Clarke D, Pratt H; PsychENCODE Consortium; Peters MA, Gerstein M, Daskalakis NP, Weng Z, Jaffe AE, Kleinman JE, Hyde TM, Weinberger DR, Bray NJ, Sestan N, Geschwind DH, Roeder K, Gusev A, Pasaniuc B, Stein JL, Love MI, Pollard KS, Liu C, Gandal MJ. Cross-ancestry, cell-type-informed atlas of gene, isoform, and splicing regulation in the developing human brain. medRxiv [Preprint]. 2023 Mar 6:2023.03.03.23286706. doi: 10.1101/2023.03.03.23286706. PMID: 36945630; PMCID: PMC10029021.

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. 2023 Feb 1;111(3):444. doi: 10.1016/j.neuron.2023.01.008. Erratum for: Neuron. 2022 Aug 17;110(16):2607-2624.e8. PMID: 36731430; PMCID: PMC9984249.