The F.M. Kirby Neurobiology Center is fully committed to recruiting and supporting the full spectrum of our diverse population and ensuring that everybody has a place in our research community.
Featured Publications
MARCH 2023
Neuron
Brainstem serotonin neurons selectively gate retinal information flow to thalamus
Chen & Andermann Labs
Selected Publications
APRIL 2023
Neuropsychopharmacology
Pharmacogenetic activation of parvalbumin interneurons in the prefrontal cortex rescues cognitive deficits induced by adolescent MK801 administration
Ferguson Lab
APRIL 2023
Epilepsia
Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapies
Poduri Lab
MARCH 2023
Experimental Neurology
Nav1.7 gain-of-function mutation I228M triggers age-dependent nociceptive insensitivity and C-LTMR dysregulation
Woolf Lab
FEBRUARY 2023
Molecular Psychiatry
CDKL5 sculpts functional callosal connectivity to promote cognitive flexibility.
Fagiolini and Umemori Labs
FEBRUARY 2023
Neurodegeneration
Common mouse models of tauopathy reflect early but not late human disease
Steen Lab
JANUARY 2023
Cell Reports
Cross-task specificity and within-task invariance of cognitive control processes
Kreiman Lab
JANUARY 2023
Science
Encoding of environmental illumination by primate melanopsin neurons
Do Lab
NOVEMBER 2022
Nature
Structured cerebellar connectivity supports resilient pattern separation
Lee Lab
AUGUST 2022
Cell Reports
DEPDC5-dependent mTORC1 signaling mechanisms are critical for the anti-seizure effects of acute fasting
Sahin Lab
AUGUST 2022
Developmental Biology
Core transcription programs controlling injury-induced neurodegeneration of retinal ganglion cells
Z. He Lab
AUGUST 2022
Developmental Biology
TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse
Engle Lab
JULY 2022
Neurobiology of Disease
Overlapping transcriptional programs promote survival and axonal regeneration of injured retinal ganglion cells
Poduri & Rotenberg Labs
JUNE 2022
Neuron
Overlapping transcriptional programs promote survival and axonal regeneration of injured retinal ganglion cells
Z. He Lab
MAY 2022
Pain
Automated preclinical detection of mechanical pain hypersensitivity and analgesia
Woolf Lab
MAY 2022
Journal of Neuroscience
ASD/OCD-Linked Protocadherin-10 Regulates Synapse, But Not Axon, Development in the Amygdala and Contributes to Fear- and Anxiety-Related Behaviors
Umemori Lab
APRIL 2022
Proceedings of the National Academy of Sciences (PNAS)
Face Neurons encode nonsemantic features
Kreiman Lab
APRIL 2022
Proceedings of the National Academy of Sciences (PNAS)
Monocyte-derived SDF1 supports optic nerve regeneration and alters retinal ganglion cells’ response to Pten deletion
Benowitz Lab
MARCH 2022
Nature Protocols
Generation and characterization of hair-bearing skin organoids from human pluripotent stem cells
Koehler Lab
MARCH 2022
International Journal of Molecular Sciences
Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine
Rotenberg Lab
FEBRUARY 2022
Human Mutation
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder
Chen Lab
FEBRUARY 2022
Ophthalmology
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study
Chen Lab
JANUARY 2022
Neonatology
Urine Proteomics for Noninvasive Monitoring of Biomarkers in Bronchopulmonary Dysplasia
Steen Lab
JANUARY 2022
American Chemical Society
multiFLEX-LF: A Computational Approach to Quantify the Modification Stoichiometries in Label-Free Proteomics Data Sets
Steen Lab
DECEMBER 2021
Cell
Posttranslational Modifications Mediate the Structural Diversity of Tauopathy Strains
Steen Lab
DECEMBER 2021
Frontiers in Cellular Neuroscience
Neuronal Loss of the Glutamate Transporter GLT-1 Promotes Excitotoxic Injury in the Hippocampus
Rosenberg Lab
DECEMBER 2021
Molecular Biology of the Cell
A multiparametric activity profiling platform for neuron disease phenotyping and drug screening
Woolf Lab
DECEMBER 2021
JCI Insight
Nociceptor neurons promote IgE class switch in B cells
Woolf Lab
DECEMBER 2021
Human Genetics
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Engle Lab
NOVEMBER 2021
Current Topics in Behavioral Neurosciences
Psychedelics as Novel Therapeutics in Alzheimer’s Disease: Rationale and Potential Mechanisms
Rosenberg Lab
NOVEMBER 2021
npj Genomic Medicine
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
Sahin Lab
NOVEMBER 2021
Science Translational Medicine
Developing nociceptor-selective treatments for acute and chronic pain
Woolf Lab
NOVEMBER 2021
Journal of Neurodevelopmental Disorders
Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome
Sahin Lab
NOVEMBER 2021
Nature Communications
A tissue-bioengineering strategy for modeling rare human kidney diseases in vivo
Sahin Lab
NOVEMBER 2021
Ear and Hearing
A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum
Géléoc/Holt Lab
NOVEMBER 2021
eLife
Sensory transduction is required for normal development and maturation of cochlear inner hair cell synapses
Géléoc/Holt Lab
OCTOBER 2021
Journal of Neuropathology & Experimental Neurology
Nuclear IMPDH Filaments in Human Gliomas
Engle Lab
OCTOBER 2021
Cell Press
Functional architecture of neural circuits for leg proprioception in Drosophila
Lee Lab
OCTOBER 2021
Journal of Neuroscience
Retinal Ganglion Cell Axon Regeneration Requires Complement and Myeloid Cell Activity within the Optic Nerve
Benowitz and Stevens Labs
OCTOBER 2021
Arteriosclerosis, Thrombosis, and Vascular Biology
Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels
Sahin Lab
OCTOBER 2021
British Pharmacological Society
Inhibition of inflammatory pain and cough by a novel charged sodium channel blocker
Woolf Lab
OCTOBER 2021
Cell
Enhanced prime editing systems by manipulating cellular determinants of editing outcomes
Sahin Lab
OCTOBER 2021
Developmental Medicine & Child Neurology
Neurodevelopmental profile of HIVEP2-related disorder
Sahin Lab
OCTOBER 2021
Orphanet Journal of Rare Diseases
Multivariate data analysis identifies natural clusters of Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND)
Sahin Lab
OCTOBER 2021
Annals of Neurology
Profile of Autism Spectrum Disorder in Tuberous Sclerosis Complex: Results from a Longitudinal, Prospective, Multisite Study
Sahin Lab
OCTOBER 2021
Neuroscience Research
Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder
Fagiolini & Sahin Lab
OCTOBER 2021
Pediatric Neurology
Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex
Sahin Lab
SEPTEMBER 2021
Cold Spring Harbor Perspectives in Biology
Axon Regeneration: A Subcellular Extension in Multiple Dimensions
Z.He Lab
SEPTEMBER 2021
Human Molecular Genetics
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: Results from the developmental Synaptopathies consortium
Sahin Lab
SEPTEMBER 2021
eLife
DeepEthogram, a machine learning pipeline for supervised behavior classification from raw pixels
Woolf Lab
SEPTEMBER 2021
Cell
Topoisomerase I inhibition and peripheral nerve injury induce DNA breaks and ATF3-associated axon regeneration in sensory neurons
Woolf Lab
SEPTEMBER 2021
Neurology
Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia
Sahin Lab
SEPTEMBER 2021
Brain Communications
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia
Sahin Lab
SEPTEMBER 2021
Journal of Cell Biology
zapERtrap: A light-regulated ER release system reveals unexpected neuronal trafficking pathways
Schwarz Lab
SEPTEMBER 2021
International Journal of Molecular Sciences
Deubiquitinating Enzyme USP8 Is Essential for Skeletogenesis by Regulating Wnt Signaling
X.He Lab
SEPTEMBER 2021
Journal of Neurodevelopmental Disorders
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
Poduri Lab
SEPTEMBER 2021
Neuropharmacology
Glutamate metabolism and recycling at the excitatory synapse in health and neurodegeneration
Rosenberg Lab
AUGUST 2021
Molecular Therapy
A hop, skip, and a jump to evade USH2A deaf-blindness mutations
Géléoc/Holt Lab
AUGUST 2021
Star Protocols
Utilizing mouse optic nerve crush to examine CNS remyelination
Z.He Lab
AUGUST 2021
Advanced Healthcare Materials
Promoting Long-Term Cultivation of Motor Neurons for 3D Neuromuscular Junction Formation of 3D In Vitro Using Central-Nervous-Tissue-Derived Bioink
Woolf Lab
AUGUST 2021
Bio-protocol
Isolation of Nuclei from Mouse Dorsal Root Ganglia for Single-nucleus Genomics
Woolf Lab
AUGUST 2021
GeneReviews
Congenital Fibrosis of the Extraocular Muscles Overview
Chen Lab
AUGUST 2021
Frontiers in Psychiatry
Psychiatric Characteristics Across Individuals With PTEN Mutations
Sahin Lab
AUGUST 2021
Journal of Cell Biology
FHL2 anchors mitochondria to actin and adapts mitochondrial dynamics to glucose supply
Schwarz Lab
AUGUST 2021
Journal of Clinical Neurophysiology
Biomarkers Obtained by Transcranial Magnetic Stimulation in Neurodevelopmental Disorders
Rotenberg Lab
AUGUST 2021
Cell Reports
Mesoscopic physiological interactions in the human brain reveal small-world properties
Kreiman Lab
AUGUST 2021
American Journal of Medical Genetics
Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations
Sahin Lab
AUGUST 2021
Cognition
Distributional learning of speech sound categories is gated by sensitive periods
Hensch Lab
JULY 2021
Journal of Bone and Mineral Research
Notum Deletion From Late-Stage Skeletal Cells Increases Cortical Bone Formation and Potentiates Skeletal Effects of Sclerostin Inhibition
X.He Lab
JULY 2021
eLife
Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts
Sahin Lab
JULY 2021
Neurology Genetics
Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia
Sahin Lab
JULY 2021
Annals of Clinical and Translational Neurology
Factors influencing the acute pentylenetetrazole-induced seizure paradigm and a literature review
Rotenberg & Sahin Lab
JUNE 2021
Science Advances
Hormonal control of motivational circuitry orchestrates the transition to sexuality in Drosophila
Crickmore Lab
JUNE 2021
Science
Reciprocal repulsions instruct the precise assembly of parallel hippocampal networks
Z.He Lab
JUNE 2021
eNeuro
MyelTracer: A Semi-Automated Software for Myelin g-Ratio Quantification
Z.He Lab
JUNE 2021
Neuroscience Research
K v 3.1 channels regulate the rate of critical period plasticity
Hensch Lab
JUNE 2021
Neuroscience Research
“Scrap & build” functional circuits: Molecular and cellular basis of neural remodeling
Hensch Lab
MAY 2021
Stem Cell Research
Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder
Sahin Lab
MAY 2021
Stem Cell Research
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50)
Sahin Lab
MAY 2021
Nature Communications
16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro
Sahin Lab
MAY 2021
Ophthalmic Genetics
A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome
Engle Lab
APRIL 2021
Science
Female-specific synaptic dysfunction and cognitive impairment in a mouse model of PCDH19 disorder
Umemori Lab
APRIL 2021
Stem Cell Reports
Balancing serendipity and reproducibility: Pluripotent stem cells as experimental systems for intellectual and developmental disorders
Sahin Lab
APRIL 2021
Annals of Neurology
Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network
Sahin Lab
APRIL 2021
Frontiers in Cellular Neuroscience
Non-Cell-Autonomous Regulation of Optic Nerve Regeneration by Amacrine Cells
Benowitz Lab
APRIL 2021
Orphanet Journal of Rare Diseases
A framework for the evaluation of patients with congenital facial weakness
Engle Lab
APRIL 2021
Molecular Autism
Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome
Sahin Lab
APRIL 2021
Muscle Nerve
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies
Engle Lab
MARCH 2021
Neurochemistry International
Glutamate homeostasis and dopamine signaling: Implications for psychostimulant addiction behavior
Rosenberg Lab
MARCH 2021
Proceedings of the National Academy of Sciences of the United States of America
Chemokine CCL5 promotes robust optic nerve regeneration and mediates many of the effects of CNTF gene therapy
Benowitz Lab
MARCH 2021
Nature Reviews Neuroscience
The role of GABAergic signalling in neurodevelopmental disorders
Tang Lab
MARCH 2021
European Journal of Human Genetics
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development
Engle Lab
MARCH 2021
Neuron
An activity-dependent determinant of synapse elimination in the mammalian brain
Umemori Lab
MARCH 2021
Proceedings of the National Academy of Sciences
Chemokine CCL5 promotes robust optic nerve regeneration and mediates many of the effects of CNTF gene therapy
Benowitz Lab
FEBRUARY 2021
Molecular Cell
Biochemical evidence accumulates across neurons to drive a network-level eruption
Crickmore Lab
FEBRUARY 2021
JAMA Neurology
Effect of Ezogabine on Cortical and Spinal Motor Neuron Excitability in Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial
Woolf Lab
FEBRUARY 2021
Nature Communications
Improving hindlimb locomotor function by Non-invasive AAV-mediated manipulations of propriospinal neurons in mice with complete spinal cord injury
Z.He Lab
FEBRUARY 2021
Journal of Autism and Developmental Disorders
Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations
Sahin Lab
FEBRUARY 2021
Contemporary Clinical Trials Communication
A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations
Sahin Lab
FEBRUARY 2021
International Journal of Molecular Sciences
Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles
Engle Lab
JANUARY 2021
The Journal of Allergy and Clinical Immunology
FcεR1 expressing nociceptors trigger allergic airway inflammation
Woolf Lab
JANUARY 2021
JAMA Network Open
Brain Responses to Noxious Stimuli in Patients With Chronic Pain
Woolf Lab
JANUARY 2021
Molecular Autism
Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism
Sahin Lab
DECEMBER 2020
Pain
Two independent mouse lines carrying the Nav1.7 I228M gain-of-function variant display dorsal root ganglion neuron hyperexcitability but a minimal pain phenotype
Woolf Lab
DECEMBER 2020
EMBO Molecular Medicine
Neonatal AAV gene therapy rescues hearing in a mouse model of SYNE4 deafness
Géléoc/Holt Lab
DECEMBER 2020
Cell
Direct Delivery of Antisense Oligonucleotides to the Middle and Inner Ear Improves Hearing and Balance in Usher Mice
Géléoc/Holt Lab
DECEMBER 2020
Nature
Reprogramming to recover youthful epigenetic information and restore vision
Z.He Lab
NOVEMBER 2020
Cell
Tau PTM Profiles Identify Patient Heterogeneity and Stages of Alzheimer’s Disease
Steen Lab
NOVEMBER 2020
Ophthalmic Genetics
KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3
Engle Lab
NOVEMBER 2020
Cell
Transcriptional Reprogramming of Distinct Peripheral Sensory Neuron Subtypes after Axonal Injury
Woolf Lab
NOVEMBER 2020
Cerebral Cortex
Increase in Seizure Susceptibility After Repetitive Concussion Results from Oxidative Stress, Parvalbumin-Positive Interneuron Dysfunction and Biphasic Increases in Glutamate/GABA Ratio
Hensch Lab
OCTOBER 2020
Current Biology
Retinal Inputs to the Thalamus Are Selectively Gated by Arousal
Chen Lab
OCTOBER 2020
Cell
Volumetric Compression Induces Intracellular Crowding to Control Intestinal Organoid Growth via Wnt/β-Catenin Signaling
X.He Lab
OCTOBER 2020
Nature
Microglia-organized scar-free spinal cord repair in neonatal mice
Z.He Lab
OCTOBER 2020
Cell
Optimized Signal Flow through Photoreceptors Supports the High-Acuity Vision of Primates
Do Lab
SEPTEMBER 2020
Nature Biotechnology
Epineural optogenetic activation of nociceptors initiates and amplifies inflammation
Woolf Lab
SEPTEMBER 2020
Annual Review of Vision Science
Organization, Function, and Development of the Mouse Retinogeniculate Synapse.
Chen Lab
SEPTEMBER 2020
eLife
TMEM79/MATTRIN defines a pathway for Frizzled regulation and is required for Xenopus embryogenesis
X.He Lab
SEPTEMBER 2020
Nature
Dense neuronal reconstruction through X-ray holographic nano-tomography
Lee Lab
SEPTEMBER 2020
Nature Biotechnology
Epineural optogenetic activation of nociceptors initiates and amplifies inflammation
Woolf Lab
SEPTEMBER 2020
Proceedings of the National Academy of Sciences
Deep learning of spontaneous arousal fluctuations detects early cholinergic defects across neurodevelopmental mouse models and patients
Fagiolini and Hensch Lab
SEPTEMBER 2020
Proceedings of the National Academy of Sciences
Critical period regulation across multiple timescales
Hensch Lab
AUGUST 2020
Molecular Genetics & Genomic Medicine
The role of sodium channels in sudden unexpected death in pediatrics
Poduri Lab
JULY 2020
Proceedings of the National Academy of Sciences
Single-molecule dynamics of Dishevelled at the plasma membrane and Wnt pathway activation
X.He Lab
JULY 2020
Annals of Neurology
Drug-Responsive Inhomogeneous Cortical Modulation by Direct Current Stimulation.
Rotenberg Lab
JUNE 2020
Science Translational Medicine
In vivo base editing restores sensory transduction and transiently improves auditory function in a mouse model of recessive deafness
Géléoc/Holt Lab
JUNE 2020
Nature
Hair-bearing human skin generated entirely from pluripotent stem cells.
Koehler Lab
APRIL 2020
Cerebral Cortex
The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex.
Sahin Lab
APRIL 2020
British Journal of Ophthalmology
Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant.
Engle Lab
APRIL 2020
Neuron
Circuitry Underlying Experience-Dependent Plasticity in the Mouse Visual System.
Chen Lab
MARCH 2020
Neurochemical Research
Conditional Knockout of GLT-1 in Neurons Leads to Alterations in Aspartate Homeostasis and Synaptic Mitochondrial Metabolism in Striatum and Hippocampus.
Rosenberg Lab
FEBRUARY 2020
Molecular Autism
Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex.
Sahin Lab
FEBRUARY 2020
Epilepsia
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Poduri Lab
JANUARY 2020
Pediatric Neurology
Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome.
Sahin Lab
JANUARY 2020
Journal of Clinical Neurophysiology
Lesion-Constrained Electrical Source Imaging: A Novel Approach in Epilepsy Surgery for Tuberous Sclerosis Complex.
Sahin Lab
JANUARY 2020
Cerebral Cortex
Accelerated Hyper-Maturation of Parvalbumin Circuits in the Absence of MeCP2.
Fagiolini Lab
DECEMBER 2019
Human Molecular Genetics
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.
Sahin Lab
FEBRUARY 2019
Nature
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Sahin Lab
FEBRUARY 2019
Developmental Cell
Kinetochore Proteins Have a Post-Miotic Function in Neurodevelopment.
Schwarz Lab
JANUARY 2019
Nature Communications
Improved TMC1 gene therapy restores hearing and balance in mice with genetic inner ear disorders.
Géléoc/Holt Lab