F.M. Kirby Neurobiology Center

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.

Kirby Center News: Publications

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. PMID: 42290675

 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:e207998. doi: 10.1172/jci.insight.207998. Online ahead of print.PMID: 42378062 

 Derivation of elephant induced pluripotent stem cells. Appleton E, Korover N, Hong K, Ambriz-Peña X, Tanaka Y, Ashkenazy-Titelman A, Rasmussen-Ivey C, Rodríguez-Caycedo C, Bhide K, Bai H, Queiroz A, Nelson JW, Rathod G, Morgan M, Mastracci A, Nelson TM, Knox G, McNutt B, Malviya N, Zhang K, Kowalczyk A, Bow A, McLendon B, Slamecka J, Ryon K, Proszynski J, Houerbi N, Kleinman AS, Poon CL, Kiso W, James M, Park IH, Gray C, Pearson VR, Mason CE, Cantarel BL, Koehler KR, Shapiro B, Kehler J, Lamm B, Church G, Hysolli E. Nat Methods. 2026 Jun 22. doi: 10.1038/s41592-026-03136-4. Online ahead of print.PMID: 42332088

 Central sensitization: when is this the right terminology? Hodges PW, Arendt-Nielsen L, Bannister K, Clauw D, Nijs J, van den Broeke E, Veasley C, Woolf CJ, Sterling M. Pain. 2026 Jun 17. doi: 10.1097/j.pain.0000000000004017. Online ahead of print.PMID: 42302106 

 Schizophrenia-associated glycoprotein Adamtsl3 regulates perineuronal net formation, maintenance, and adult cortical plasticity. Cramer TML, Hannan SB, Petre L, Bear MF, Hensch TK, Tyagarajan SK. Mol Psychiatry. 2026 Jun 11. doi: 10.1038/s41380-026-03672-7. Online ahead of print.PMID: 42277231

 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, Capdevila LS, 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 Jun 8. doi: 10.1038/s41586-026-10735-w. Online ahead of print.PMID: 42259917

High-Fidelity Backpropagation through Primate Foveal Cones. Wienbar SR, Bryman GS, Do MTH. J Neurosci. 2026 Jun 3;46(22):e0085262026. doi: 10.1523/JNEUROSCI.0085-26.2026.PMID: 42049512 

The Wnt inhibitor Tiki2 maintains articular cartilage homeostasis and protects against osteoarthritis. Li X, Zhao W, MacDonald BT, Zhang H, Duan W, Xu K, He X, Zhang X. Sci Signal. 2026 Jun 2;19(940):eadv0789. doi: 10.1126/scisignal.adv0789. Epub 2026 Jun 2.PMID: 42228772

 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 Jun 1:102615. doi: 10.1016/j.gim.2026.102615. Online ahead of print.PMID: 42227234

Autism subtypes identified using cross-species functional connectivity analyses. Pagani M, Zerbi V, Gini S, Alvino FG, Banerjee A, Barberis A, Basson MA, Bozzi Y, Galbusera A, Ellegood J, Fagiolini M, Lerch JP, Matteoli M, Montani C, Pozzi D, Provenzano G, Scattoni ML, Wenderoth N, Xu T, Lombardo MV, Milham MP, Di Martino A, Gozzi A. Nat Neurosci. 2026 Jun;29(6):1476-1487. doi: 10.1038/s41593-026-02287-z. Epub 2026 May 15.PMID: 42141307

Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies. Sherrill E, Cheerie D, Beck CJ, Whittle EF, Shafi Y, Chandler NJ, Christodoulou J, Daniel J, Hassell J, Lachgar-Ruiz M, Mulhern S, Scotchman E, Sidhu J, Tedja CF, Chitty LS, Cross JH, Scheffer IE, Zhou H, Yu TW, Chau V, Stephenson SEM, Poduri A, Howell KB, McTague A, Costain G, D’Gama AM; Gene-STEPS Study Group. JAMA Neurol. 2026 Jun 1;83(6):598-601. doi: 10.1001/jamaneurol.2026.1021.PMID: 42081236 

 Early Vigabatrin Treatment Before Seizure Onset Decreased Interictal Epileptiform Discharges Over the Duration of the PREVeNT Study. McPherson TO, Bebin EM, Farach LS, Wulsin AC, Davis P, Au KS, Sahin M, Wu JY, Taub KS, Rajaraman R, Randle S, McClintock WM, Koenig MK, Frost MD, Northrup H, Werner K, Nolan D, Wong M, Krefting J, Peri K, Cutter G, Krueger D, Peters JM, Porter BE; PREVeNT Study Group. Pediatr Neurol. 2026 Jun;179:30-36. doi: 10.1016/j.pediatrneurol.2026.03.005. Epub 2026 Mar 11.PMID: 41904855 

A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy. Berry GT, Vos EN, Demirbas D, Brucker W, Gilmartin A, Lehtinen MK, Yang E, Prabhu SP, Chen J, Huang X, Qi W, Bennett MJ, Haynes RL, Rodan L, Poduri A, Pearl PL, Rotenberg A, He M, Rubio-Gozalbo ME. Mol Genet Metab. 2026 Jun;148(2):109871. doi: 10.1016/j.ymgme.2026.109871. Epub 2026 Mar 3.PMID: 41875761 

Interictal cardiac repolarization abnormalities improve after surgical seizure resolution in pediatric drug-resistant epilepsy. Bozdag E, Makaram N, Sabino G, Bolton J, Grant EP, Rotenberg A, Tamilia E. Epilepsia. 2026 Jun;67(6):3034-3047. doi: 10.1002/epi.70206. Epub 2026 Mar 18.PMID: 41848583

Human induced pluripotent stem cell-derived inner ear organoids reveal hair cell damage and plasticity after cisplatin and gentamicin exposure. Lucassen AWA, van den Boogaard WMC, Fousert E, Zhang J, Koehler KR, de Groot JCMJ, van Benthem PPG, van der Valk WH, Locher H. Dis Model Mech. 2026 Jun 1;19(6):dmm052511. doi: 10.1242/dmm.052511. Epub 2026 Mar 3.PMID: 41773293 

 Expanding Clinical Experience With Istradefylline in ADCY5-Related Movement Disorder: A Case With No Benefit. Bernardi K, Ebrahimi-Fakhari D, Yang K. Mov Disord Clin Pract. 2026 Jun;13(6):1582-1583. doi: 10.1002/mdc3.70572. Epub 2026 Feb 25.PMID: 41741127 

The Infant and Toddler Developmental Profile of Kleefstra Syndrome. Yue SL, Pillai RLI, Frazier Z, Osika H, Quinn M, O’Toole J, Heslin B, Zhang B, Dies KA, Pais L, O’Donnell-Luria A, Horlbeck MA, Kossowsky J, Lipton J, Srivastava S. Am J Med Genet A. 2026 Jun;200(6):1267-1272. doi: 10.1002/ajmga.70071. Epub 2026 Feb 6.PMID: 41652658

Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders. Almpani K, Devine KR, Liberton DK, Mishra R, Bassim C, Van Ryzin C, Facio FM, Webb BD, Barry BJ, Engle EC, Wang Jabs E, Collins FS, Manoli I, Lee JS; Moebius Syndrome Research Consortium. Cleft Palate Craniofac J. 2026 Jun;63(6):1455-1468. doi: 10.1177/10556656251344128. Epub 2025 Jul 3.PMID: 40611650

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....

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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...

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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:...

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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,...

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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,...

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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,...

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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...

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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...

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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...

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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....

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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...

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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...

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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....

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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...

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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...

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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...

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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....

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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...

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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...

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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...

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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...

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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...

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