The F.M. Kirby Neurobiology Center is fully committed to recruiting and supporting talented individuals and ensuring they all have a place in our research community.
August 2026
Movement Disorders in Aicardi-Goutières Syndrome and Response to Immunomodulation.
Gonzalez Saez-Diez E, Ferrer Socorro M, Yang K, Battaglia N, Zaman Z, Bennett M, Vanderver A, Lee PY, Henderson LA, Andzelm MM, Ebrahimi-Fakhari D. Ann Clin Transl Neurol. 2026 Aug;13(8):1702-1710. doi: 10.1002/acn3.70407. Epub 2026 Apr 25.PMID: 42033272
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.
Smith L, Bonkowski E, Prentice A, Cohen S, Lusk L, Parthasarathy S, Burns B, Butler E, Chen Y, Dady K, Dugger S, Ing A, Lassiter R, Lewis-Smith D, Mulhern M, Nguyen JNH, Olival J, Sajan SA, Thompson CH, George AL Jr, Wagnon J, Yergert K, Magielski JH, McKee JL, Riggs E, Wiltrout K, Poduri A, Helbig I, Mefford HC. Genet Med. 2026 Aug;28(8):102615. doi: 10.1016/j.gim.2026.102615. Epub 2026 Jun 2.PMID: 42227234
Distributed control circuits across a brain-and-cord connectome.
Bates AS, Phelps JS, Kim M, Yang HH, Matsliah A, Ajabi Z, Perlman E, Delgado KM, Osman MAM, Salmon CK, Gager J, Silverman B, Renauld S, Salman F, Patel J, Collie MF, Fan J, Pacheco DA, Zhao Y, Zhang W, Serratosa Capdevila L, Roberts RJV, Munnelly EJ, Griggs N, Langley H, Moya-Llamas B, Zhang Z, Maloney RT, Yu SC, Sterling AR, Sorek M, Kruk K, Serafetinidis N, Dhawan S, Klemm F, Brooks P, Lesser E, Jones JM, Pierce-Lundgren SE, Lee SY, Luo Y, Cook AP, McKim TH, Giakoumas DS, Gorko B, Ellis-Joyce J, Zhang J, Kophs EC, Falt T, Negron-Morales AM, Burke A, Hebditch J, Willie KP, Willie R, Popovych S, Kemnitz N, Ih D, Lee K, Lu R, Halageri A, Bae JA, Jourdan B, Schwartzman G, Demarest DD, Behnke E, Bland D, Kristiansen A, Skelton J, Stocks T, Garner D, Hernandez A, Kumar S; BANC-FlyWire Consortium; Daly KC, Dorkenwald S, Collman F, Suver MP, Fenk LM, Pankratz MJ, Yao Z, Wang F, Huston SJ, Stürner T, Jefferis GSXE, Eichler K, Seeds AM, Hampel S, Agrawal S, Okubo TS, Zandawala M, Macrina T, Adjavon DY, Funke J, Tuthill JC, Azevedo A, Seung HS, de Bivort BL, Murthy M, Drugowitsch J, Wilson RI, Lee WA. Nature. 2026 Aug;656(8129):957-970. doi: 10.1038/s41586-026-10735-w. Epub 2026 Jun 8.PMID: 42259917
Loss of SARM1 Improves Phenotypes in a Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Ndiaye PS, Paul S, Zhao G, Ding C, Pulst SM, Schwarz T. Neurol Genet. 2026 Jun 9;12(4):e200400. doi: 10.1212/NXG.0000000000200400. eCollection 2026 Aug.PMID: 42290675
Ultrastructural and electrophysiological determination of the patency of monkey cone outer segment membranes.
Paniagua AE, Volland S, Bryman GS, Luna G, Chang AW, Do MTH, Fisher SK, Williams DS. J Neurosci. 2026 Aug 3:e0245262026. doi: 10.1523/JNEUROSCI.0245-26.2026. Online ahead of print.PMID: 42547447
Expanding the Motor Phenotype and Molecular Spectrum of NAA15-Related Disorder: Two Cases of Isolated Childhood-Onset Gait Dystonia.
Yang K, Montomoli M, Rong J, Tam A, Ferrer Socorro M, Miller C, Ebrahimi-Fakhari D. Mov Disord. 2026 Aug 4. doi: 10.1002/mds.70447. Online ahead of print.PMID: 42549786 No abstract available.
TMEM145 is a principal component of outer hair cell stereocilia.
Derstroff D, Flook M, Löhnes A, Kreye P, Newton S, Renigunta V, Hanemaaijer S, Aguilar C, Holt JR, Bowl MR, Oliver D, Reimann K. Neuron. 2026 Aug 5;114(15):2811-2825.e7. doi: 10.1016/j.neuron.2026.03.007. Epub 2026 Mar 31.PMID: 41923617
Development of a human iPSC and patient phenotyping resource for preclinical investigations of neurodevelopmental disorders.
Chen C, Afshar-Saber W, Iglesias I, Kim K, Lewis B, Srinivasan G, Chen C, Hirsh R, Guardado R, Polanco T, Swanson A, Norabuena E, Whye D, Jain A, Cai C, Sun L, Chopra M, Chen I, Iannello G, Rozumny B, Hanson E, Sahin M, Buttermore ED. Stem Cell Res. 2026 Aug 6;95:104073. doi: 10.1016/j.scr.2026.104073. Online ahead of print.PMID: 42612424
Safety, feasibility, and outcomes of deep brain stimulation in young children excluded from the FDA Humanitarian Device Exemption: analysis of the CHILD-DBS registry.
Jung S, Molot-Toker S, Dinger TF, Balachandar A, Taha B, Mithani K, Breitbart S, Huynh M, Kisteroff F, Sriharan S, Vogt LM, LeBlanc-Millar A, Ebrahimi-Fakhari D, Yang K, Ruppert-Gomez M, Stone SS, Northam WT, Gadgil N, Raskin JS, Weil AG, Hadjinicolaou A, Meijer IA, Fasano A, Gorodetsky C, Ibrahim GM. J Neurosurg Pediatr. 2026 Aug 7:1-12. doi: 10.3171/2026.2.PEDS25517. Online ahead of print.PMID: 42566800
Lysosomal dysfunction drives a transcriptional and epigenetic signature found in disease-associated microglia in neurodegenerative diseases.
Balak CD, Schlachetzki JCM, Lana AJ, West E, Hong C, DuGal J, Zhou Y, Li B, Spann NJ, Saisan P, Sarsani V, Kleemann KL, Zhang X, Pasillas MP, O’Brien S, Bokor JA, Gordts PLSM, Butovsky O, Stevens B, Kamme F, Glass CK. Immunity. 2026 Aug 11;59(8):2142-2163.e8. doi: 10.1016/j.immuni.2026.07.008. Epub 2026 Aug 3.PMID: 42546694
Disease characteristics of SEPSECS deficiency: an international, retrospective, multicenter cohort study.
Killam BY, Knol MJ, Fradejas-Villar N, Chillon TS, Ruijter GJG, Bonte R, Abdulwahab F, Aldhalaan H, Alfaifi A, Alkuraya FS, Alsaif HS, Kiernan KA, Puppala AK, Baker L, Batten L, Chedrawi A, Dempsey JC, Doherty D, Faivre L, Gowda VK, Hashem MO, Heidari E, Garshasbi M, Inaba Y, Iwama K, Kinali M, Korinthenberg R, Lesca G, Maroofian R, Matsumoto N, Mazel B, Nelson SF, Neuteboom RF, Nicolescu CR, Olson H, Poduri A, Sasaki M, Schorling D, Signer RH, Srinivasan VM, Tamim A, Tavasoli AR, Tous E, Tyynismaa H, Visser WE, Vitobello A, Vlachou V, Wilke M, Adams HHH, Schomburg L, Schweizer U, Simonović M, Demirdas S. Genet Med. 2026 Aug 14:102684. doi: 10.1016/j.gim.2026.102684. Online ahead of print.PMID: 42603098
Targeting Gi/o-coupled GPCRs to inhibit nociceptors: Insights from the serotonin receptor Htr1b and triptans.
Peng J, Sanchez BT, Chirila AM, Zeng X, DeLisle MM, Qi L, Xiao JY, Lezgiyeva K, Low SA, Woolf CJ, Sharma N, Ginty DD. Cell Rep Med. 2026 Aug 18;7(8):102949. doi: 10.1016/j.xcrm.2026.102949. Epub 2026 Jul 30.PMID: 42532046
δ2-Protocadherins organize parallel indirect basal ganglia circuits.
Hoshina N, Boeckers JM, Johnson-Venkatesh EM, Hoshina M, Matsumoto K, Das A, Rally VR, Sant J, Terauchi A, Kinoshita S, Inoue T, Umemori H. Sci Adv. 2026 Aug 21;12(34):eaec8746. doi: 10.1126/sciadv.aec8746. Epub 2026 Aug 21.PMID: 42627895
Programming of deep brain stimulation of the centromedian nucleus of the thalamus for drug-resistant epilepsy: A meta-analysis and proposed programming framework.
AlQahtani MA, Stern-Zimmer M, Jain P, Sharma S, Fasano A, Rotenberg A, Ibrahim GM, Gorodetsky C. Epilepsia. 2026 Aug 22. doi: 10.1002/epi.70445. Online ahead of print.PMID: 42631552
De novo VPS16 missense variant causes infantile-onset dystonia with defective autophagic flux.
Gonzalez Saez-Diez E, Xue X, Tam A, Kim HM, Carty S, Rong J, Ferrer-Socorro M, Yang K, Ebrahimi-Fakhari D. JCI Insight. 2026 Jun 30;11(16):e207998. doi: 10.1172/jci.insight.207998. eCollection 2026 Aug 24.PMID: 42378062
Assessment of auditory and vestibular function and gene therapy in the Snell’s waltzer mouse model of human deafness and balance dysfunction.
Marton E, Hahn R, Bikovski L, Géléoc GSG, Holt JR, Mintz M, Avraham KB. Mamm Genome. 2026 Aug 28;37(1):99. doi: 10.1007/s00335-026-10263-y.PMID: 42665733
August 2026
Movement Disorders in Aicardi-Goutières Syndrome and Response to Immunomodulation.Gonzalez Saez-Diez E, Ferrer Socorro M, Yang K, Battaglia N, Zaman Z, Bennett M, Vanderver A, Lee PY, Henderson LA, Andzelm MM, Ebrahimi-Fakhari D. Ann Clin Transl Neurol. 2026...
July 2026
Targeting Gi/o-coupled GPCRs to inhibit nociceptors: Insights from the serotonin receptor Htr1b and triptans.Peng J, Sanchez BT, Chirila AM, Zeng X, DeLisle MM, Qi L, Xiao JY, Lezgiyeva K, Low SA, Woolf CJ, Sharma N, Ginty DD. Cell Rep Med. 2026 Jul 30:102949. doi:...
June 2026
Loss of SARM1 Improves Phenotypes in a Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. Ndiaye PS, Paul S, Zhao G, Ding C, Pulst SM, Schwarz T. Neurol Genet. 2026 Jun 9;12(4):e200400. doi: 10.1212/NXG.0000000000200400. eCollection 2026 Aug....
May 2026
DBSMatchMaker: Global Uptake and Insights from the First Year of a Collaborative Deep Brain Stimulation Platform. Rong J, Bernardi K, Ebrahimi-Fakhari D, Yang K. Mov Disord. 2026 May;41(5):1294-1298. doi: 10.1002/mds.70180. Epub 2026 Jan 8.PMID: 41503826 Bilateral...
April 2026
Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome. Simon AJ, Picard N, d'Andrea V, Chang E, Leffler J, Centofante E, Taylor M, Bardi F, Cavicchiolo F, Hensch TK, Panzeri S, Chen C, Fagiolini M.Ann Clin Transl Neurol. 2026 Apr;13(4):700-713. doi:...
March 2026
Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia: A Study of 428 Cases. Resch D, Alecu JE, Yang K, Quiroz V, Schierbaum L, Bernardi K, Zaman Z, Agianda HAP, Rong J, Battaglia N, Carty S, Tam A, Kieslich M, Santorelli FM, González-Salazar C,...
February 2026
Comprehensive Clinical Characteristics, Longitudinal Adaptive Functioning, and Electroencephalogram Activity in MAPK8IP3-Related Neurodevelopmental Disorder. Sudnawa KK, Geltzeiler A, Kanner CH, Zreibe K, Pini N, Tam C, Fee RJ, Calamia S, Callejo E, Sharples H,...
January 2026
Electroencephalogram (EEG) Spike Metrics Discriminate Impending Epileptic Spasms From Other Seizures in Children With Tuberous Sclerosis Complex: A Pilot Study. Brandon Bravo Bruinsma PJ, Hadjinicolaou A, Rajaraman RR, Hussain SA, Krueger DA, Sahin M, Northrup H,...
June to December 2025
ap4b1 -/zebrafish demonstrate morphological and motor abnormalities. Hum Mol Genet. Ebrahimi-Fakhari Lab. Limited transmission of mixed convergent signals at the mouse retinogeniculate synapse. Neuron. Chen Lab. Structural and functional basis of mechanosensitive...
January to May 2025
Harnessing the potential of human induced pluripotent stem cells, functional assays and machine learning for neurodevelopmental disorders. Front Neuroscience. Human Neuron Core. Phenotypic rescue via mTOR inhibition in neuron-specific Pten knockout mice reveals AKT...
July to December 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Genet Med. Engle Lab. Identification of novel neuroprotectants against vincristine-induced neurotoxicity in iPSC-derived neurons. Cell Mol Life Sci. Woolf Lab. Dopamine biases...
May & June 2024
Spinal projecting neurons in rostral ventromedial medulla co-regulate motor and sympathetic tone. Cell. Zhigang He Lab. The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. Ann Clin Transl Neurol. Ebrahimi-Fakhari Lab....
March & April 2024
Neural and behavioural state switching during hippocampal dentate spikes. Nature. Farrell Lab. Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia. JAMA Ophthalmol. Engle & Whitman Labs. Comprehensive phenotypes of patients with...
January & February 2024
Quantitative profiling of posttranslational modifications of pathological tau via sarkosyl fractionation and mass spectrometry. Nature Protocols. Steen Lab. High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal...
November & December 2023
A transcriptomic taxonomy of mouse brain-wide spinal projecting neurons. Nature. Z. He Lab. Clinical Variants Paired with Phenotype: A Rich Resource for Brain Gene Curation. Genetics in Medicine. Chopra & Sahin Labs. The Multistable Melanopsins of Mammals....
September & October 2023
Synaptic BMAL1 phosphorylation controls circadian hippocampal plasticity. Science Advances. Lipton Lab. Shortened Motor Evoked Potential Latency in the Epileptic Hemisphere of Children With Focal Epilepsy. Journal of Clinical Neurophysiology. Rotenberg Lab. Behavioral...
July & August 2023
The projection-specific signals that establish functionally segregated dopaminergic synapses. Cell. Umemori Lab. Exposure of iPSC-derived human microglia to brain substrates enables the generation and manipulation of diverse transcriptional states in vitro. Nature...
May & June 2023
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nature Genetics. Engle Lab. Defining diurnal fluctuations in mouse choroid plexus and CSF at high molecular, spatial, and temporal...
March & April 2023
A Preliminary Study of Mild Heat Stress on Inflammasome Activation in Murine Macrophages. Cells. Woolf Lab. Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex. Pediatric Neurology. Sahin Lab....
January & February 2023
CDKL5 sculpts functional callosal connectivity to promote cognitive flexibility. Molecular Psychiatry. Fagiolini & Umemori Labs. Common mouse models of tauopathy reflect early but not late human disease. Molecular Neurodegeneration. Steen Lab Cross-talk...
July – December 2022
Structured cerebellar connectivity supports resilient pattern separation. Nature. Lee Lab. DEPDC5-dependent mTORC1 signaling mechanisms are critical for the anti-seizure effects of acute fasting. Cell Reports. Sahin Lab. Core transcription programs controlling...
January – June 2022
Overlapping transcriptional programs promote survival and axonal regeneration of injured retinal ganglion cells. Neuron. Z. He Lab. Automated preclinical detection of mechanical pain hypersensitivity and analgesia. Pain. Woolf Lab. ASD/OCD-Linked Protocaherin-10...
November & December 2021
Posttranslational Modifications Mediate the Structural Diversity of Taupathy Strains. Cell. Steen Lab. Neuronal Loss of the Glutamate Transporter GLT-1 Promotes Excitotoxic Injury in the Hippocampus. Frontiers in Cellular Neuroscience. Rosenberg Lab. A multiparametric...
September & October 2021
Nuclear IMPDH Filaments in Human Gliomas. Journal of Neuropathology & Experimental Neurology. Engle Lab. Functional architecture of neural circuits for leg proprioception in Drosophila. Cell Press. Lee Lab. Retinal Ganglion Cell Axon Regeneration Requires...