Alexander G. Bassuk

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.

Novel mutations in VANGL1 in neural tube defects.

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.

Genetic basis of neural tube defects.

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.

Contribution of VANGL2 mutations to isolated neural tube defects.

Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.

HeyL promotes neuronal differentiation of neural progenitor cells.

Mutations in prickle orthologs cause seizures in flies, mice, and humans.

Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.

Nuclear localization of Prickle2 is required to establish cell polarity during early mouse embryogenesis.

Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.

Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.

Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy.

Mechanisms of prickle1a function in zebrafish epilepsy and retinal neurogenesis.

Presence of epilepsy-associated variants in large exome databases.

Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.

Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy.

Genome-wide association mapping in dogs enables identification of the homeobox gene, NKX2-8, as a genetic component of neural tube defects in humans.

Prickle1 stunts limb growth through alteration of cell polarity and gene expression.

Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease.

PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.

Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.

Inflammasome-independent IL-1β mediates autoinflammatory disease in Pstpip2-deficient mice.

A novel RPGR mutation masquerading as Stargardt disease.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Analysis of PRICKLE1 in human cleft palate and mouse development demonstrates rare and common variants involved in human malformations.

Defective motile cilia in Prickle2-deficient mice.

Prickle1 is necessary for the caudal migration of murine facial branchiomotor neurons.

Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms.

prickle modulates microtubule polarity and axonal transport to ameliorate seizures in flies.

P7C3 neuroprotective chemicals block axonal degeneration and preserve function after traumatic brain injury.

Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.

Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.

CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model.

A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria.

Precision Medicine: Genetic Repair of Retinitis Pigmentosa in Patient-Derived Stem Cells.

Precision Medicine: Personalized Proteomics for the Diagnosis and Treatment of Idiopathic Inflammatory Disease.

Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.

Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine.

Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.

BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE.

Neuroretinal hypoxic signaling in a new preclinical murine model for proliferative diabetic retinopathy.

CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa.

Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy.

Small-angle X-ray scattering of calpain-5 reveals a highly open conformation among calpains.

Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.

Reprogramming towards anabolism impedes degeneration in a preclinical model of retinitis pigmentosa.

Patterning of papillae on the mouse tongue: A system for the quantitative assessment of planar cell polarity signaling.

Mutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans.

Biallelic mutations in neuromuscular disease and epileptic encephalopathy.

Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).

Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia.

Unexpected mutations after CRISPR-Cas9 editing in vivo.

Proteomic Analysis of Elevated Intraocular Pressure with Retinal Detachment.

Prickle1 regulates neurite outgrowth of apical spiral ganglion neurons but not hair cell polarity in the murine cochlea.

CRISPR-mediated Ophthalmic Genome Surgery.

Calpain-5 gene expression in the mouse eye and brain.

Gene Therapy Restores Mfrp and Corrects Axial Eye Length.

CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa: A Brief Methodology.

Personalized Proteomics in Proliferative Vitreoretinopathy Implicate Hematopoietic Cell Recruitment and mTOR as a Therapeutic Target.

Therapeutic drug repositioning using personalized proteomics of liquid biopsies.

Autologous stem cell therapy for inherited and acquired retinal disease.

Proteomic analysis of the human retina reveals region-specific susceptibilities to metabolic- and oxidative stress-related diseases.

A novel de novo mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.

Caring for Hereditary Childhood Retinal Blindness.

Acute vitreoretinal trauma and inflammation after traumatic brain injury in mice.

Combined Blockade of Interleukin-1α and -1β Signaling Protects Mice from Cognitive Dysfunction after Traumatic Brain Injury.

HTRA1, an age-related macular degeneration protease, processes extracellular matrix proteins EFEMP1 and TSP1.

CRISPR GENOME SURGERY IN THE RETINA IN LIGHT OF OFF-TARGETING.

Deferoxamine-induced electronegative ERG responses.

A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder.

Extracellular superoxide dismutase (SOD3) regulates oxidative stress at the vitreoretinal interface.

Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity.

Personalized Proteomics for Precision Health: Identifying Biomarkers of Vitreoretinal Disease.

PROGRESSION OF SCOTOPIC SINGLE-FLASH ELECTRORETINOGRAPHY IN THE STAGES OF CAPN5 VITREORETINOPATHY.

ProSave: an application for restoring quantitative data to manipulated subsets of protein lists.

VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site.

The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.

Optical Coherence Tomography Angiography of RPGR-Associated Retinitis Pigmentosa Suggests Foveal Avascular Zone is a Biomarker for Vision Loss.

Drug repositioning in epilepsy reveals novel antiseizure candidates.

Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a Rho mutation.

Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy.

Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans.

In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.

CRISPR Base Editing in Induced Pluripotent Stem Cells.

CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.

Hypoxic drive caused Type 3 neovascularization in a preclinical model of exudative age-related macular degeneration.

Blast Preconditioning Protects Retinal Ganglion Cells and Reveals Targets for Prevention of Neurodegeneration Following Blast-Mediated Traumatic Brian Injury.

A Mouse Model for Juvenile, Lateral Fluid Percussion Brain Injury Reveals Sex-Dependent Differences in Neuroinflammation and Functional Recovery.

Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.

Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants.

Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.

Metabolite therapy guided by liquid biopsy proteomics delays retinal neurodegeneration.

Modulation of Post-Traumatic Immune Response Using the IL-1 Receptor Antagonist Anakinra for Improved Visual Outcomes.

Identification of chronic brain protein changes and protein targets of serum auto-antibodies after blast-mediated traumatic brain injury.

Phenotypic variance in Calpain-5 retinal degeneration.

Proteomic analysis of intermediate uveitis suggests myeloid cell recruitment and implicates IL-23 as a therapeutic target.

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.

Input-output connections of LJA5 prodynorphin neurons.

Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.

Sex Does Not Influence Visual Outcomes After Blast-Mediated Traumatic Brain Injury but IL-1 Pathway Mutations Confer Partial Rescue.

Novel inhibitory brainstem neurons with selective projections to spinal lamina I reduce both pain and itch.

Peptidomimetics Therapeutics for Retinal Disease.

Neuropathophysiological Mechanisms and Treatment Strategies for Post-traumatic Epilepsy.

Structure-based phylogeny identifies avoralstat as a TMPRSS2 inhibitor that prevents SARS-CoV-2 infection in mice.

Visual Outcomes in Experimental Rodent Models of Blast-Mediated Traumatic Brain Injury.

Compound heterozygous variants in progressive myoclonus epilepsy.

Gene therapy for Rett syndrome.

PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders.

Traumatic brain injury results in unique microglial and astrocyte transcriptomes enriched for type I interferon response.

Introducing the Child Neurology Society Leadership, Diversity, Equity, and Inclusion Task Force.

The opioid antagonist naltrexone decreases seizure-like activity in genetic and chemically induced epilepsy models.

Investigation of Cas9 antibodies in the human eye.

Author Correction: Investigation of Cas9 antibodies in the human eye.

Proteomic analysis of autoimmune retinopathy implicates NrCAM as a potential biomarker.

Calpains as mechanistic drivers and therapeutic targets for ocular disease.

Lacosamide decreases neonatal seizures without increasing apoptosis.

Human Brainstem and Cerebellum Atlas: Chemoarchitecture and Cytoarchitecture Paired to MRI.

Downregulation of oxidative stress-mediated glial innate immune response suppresses seizures in a fly epilepsy model.

Fast Detection and Quantification of Interictal Spikes and Seizures in a Rodent Model of Epilepsy Using an Automated Algorithm.

Selective neuroimmune modulation by type I interferon drives neuropathology and neurologic dysfunction following traumatic brain injury.