Publications

2023

A transcriptomic taxonomy of mouse brain-wide spinal projecting neurons

Winter CC, Jacobi A, Su J, Chung L, van Velthoven CTJ, Yao Z, Lee C, Zhang Z, Yu S, Gao K, Duque Salazar G, Kegeles E, Zhang Y, Tomihiro MC, Zhang Y, Yang Z, Zhu J, Tang J, Song X, Donahue RJ, Wang Q, McMillen D, Kunst M, Wang N, Smith KA, Romero GE, Frank MM, Krol A, Kawaguchi R, Geschwind DH, Feng G, Goodrich LV, Liu Y, Tasic B, Zeng H, He Z. A transcriptomic taxonomy of mouse brain-wide spinal projecting neurons. Nature. 2023 Dec;624(7991):403-414. doi: 10.1038/s41586-023-06817-8. Epub 2023 Dec 13. PMID: 38092914; PMCID: PMC10719099.

Genome-wide study reveals novel roles for formin-2 in axon regeneration as a microtubule dynamics regulator and therapeutic target for nerve repair

Au NPB, Wu T, Chen X, Gao F, Li YTY, Tam WY, Yu KN, Geschwind DH, Coppola G, Wang X, Ma CHE. Genome-wide study reveals novel roles for formin-2 in axon regeneration as a microtubule dynamics regulator and therapeutic target for nerve repair. Neuron. 2023 Dec 20;111(24):3970-3987.e8. doi: 10.1016/j.neuron.2023.11.011. Epub 2023 Dec 11. PMID: 38086376.

Neurite-based white matter alterations in MAPT mutation carriers: A multi-shell diffusion MRI study in the ALLFTD consortium

Corriveau-Lecavalier N, Tosakulwong N, Lesnick TG, Fought AJ, Reid RI, Schwarz CG, Senjem ML, Jack CR Jr, Jones DT, Vemuri P, Rademakers R, Ramos EM, Geschwind DH, Knopman DS, Botha H, Savica R, Graff-Radford J, Ramanan VK, Fields JA, Graff-Radford N, Wszolek Z, Forsberg LK, Petersen RC, Heuer HW, Boxer AL, Rosen HJ, Boeve BF, Kantarci K; ALLFTD consortium. Neurite-based white matter alterations in MAPT mutation carriers: A multi-shell diffusion MRI study in the ALLFTD consortium. Neurobiol Aging. 2024 Feb;134:135-145. doi: 10.1016/j.neurobiolaging.2023.12.001. Epub 2023 Dec 10. PMID: 38091751; PMCID: PMC10872472.

Polygenic profiles define aspects of clinical heterogeneity in attention deficit hyperactivity disorder

LaBianca S, Brikell I, Helenius D, Loughnan R, Mefford J, Palmer CE, Walker R, Gådin JR, Krebs M, Appadurai V, Vaez M, Agerbo E, Pedersen MG, Børglum AD, Hougaard DM, Mors O, Nordentoft M, Mortensen PB, Kendler KS, Jernigan TL, Geschwind DH, Ingason A, Dahl AW, Zaitlen N, Dalsgaard S, Werge TM, Schork AJ. Polygenic profiles define aspects of clinical heterogeneity in attention deficit hyperactivity disorder. Nat Genet. 2024 Feb;56(2):234-244. doi: 10.1038/s41588-023-01593-7. Epub 2023 Nov 30. PMID: 38036780.

The contributions of rare inherited and polygenic risk to ASD in multiplex families

Cirnigliaro M, Chang TS, Arteaga SA, Pérez-Cano L, Ruzzo EK, Gordon A, Bicks LK, Jung JY, Lowe JK, Wall DP, Geschwind DH. The contributions of rare inherited and polygenic risk to ASD in multiplex families. PNAS. 2023 Aug;120(31):e2215632120. doi: 10.1073/pnas.2215632120. Epub 2023 Jul 28. PMID: 37506195; PMCID: PMC10400943.

Concurrent impact of de novo mutations on cranial and cortical development in nonsyndromic craniosynostosis

Kiziltug E, Duy PQ, Allington G, Timberlake AT, Kawaguchi R, Long AS, Almeida MN, DiLuna ML, Alper SL, Alperovich M, Geschwind DH, Kahle KT. Concurrent impact of de novo mutations on cranial and cortical development in nonsyndromic craniosynostosis. J Neurosurg Pediatr. 2023 Oct 27;33(1):59-72. doi: 10.3171/2023.8.PEDS23155. PMID: 37890181; PMCID: PMC10783441.

Disease-specific selective vulnerability and neuroimmune pathways in dementia revealed by single cell genomics

Rexach JE, Cheng Y, Chen L, Polioudakis D, Lin LC, Mitri V, Elkins A, Yin A, Calini D, Kawaguchi R, Ou J, Huang J, Williams C, Robinson J, Gaus SE, Spina S, Lee EB, Grinberg LT, Vinters H, Trojanowski JQ, Seeley WW, Malhotra D, Geschwind DH. Disease-specific selective vulnerability and neuroimmune pathways in dementia revealed by single cell genomics. bioRxiv [Preprint]. 2023 Sep 30:2023.09.29.560245. doi: 10.1101/2023.09.29.560245. PMID: 37808727; PMCID: PMC10557766.

The contributions of rare inherited and polygenic risk to ASD in multiplex families

Cirnigliaro M, Chang TS, Arteaga SA, Pérez-Cano L, Ruzzo EK, Gordon A, Bicks LK, Jung JY, Lowe JK, Wall DP, Geschwind DH. The contributions of rare inherited and polygenic risk to ASD in multiplex families. Proc Natl Acad Sci U S A. 2023 Aug;120(31):e2215632120. doi: 10.1073/pnas.2215632120. Epub 2023 Jul 28. PMID: 37506195; PMCID: PMC10400943.

Integrin-driven Axon Regeneration in the Spinal Cord Activates a Distinctive CNS Regeneration Program

Cheah M, Cheng Y, Petrova V, Cimpean A, Jendelova P, Swarup V, Woolf CJ, Geschwind DH, Fawcett JW. Integrin-driven Axon Regeneration in the Spinal Cord Activates a Distinctive CNS Regeneration Program. J Neurosci. 2023 Jun 5:JN-RM-2076-22. doi: 10.1523/JNEUROSCI.2076-22.2023. Epub ahead of print. PMID: 37277179.

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.