A. Bassuk

发表

Metabolite therapy guided by liquid biopsy proteomics delays retinal neurodegeneration

Vishnu Shankar, R. Zare, Katherine J. Wert, 2020, EBioMedicine.

Whole-Exome Sequencing of Patients with Posterior Segment Uveitis.

G. Velez, A. Bassuk, S. Tsang, 2020, American journal of ophthalmology.

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

Alexander G Bassuk, William B Dobyns, I. Krantz, 2009, Nature Genetics.

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

J. Robert Manak, Alexander G. Bassuk, T. Kitamoto, 2016, Annals of clinical and translational neurology.

Unexpected mutations after CRISPR–Cas9 editing in vivo

A. Bassuk, S. Tsang, V. Mahajan, 2017, Nature Methods.

Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10

W. J. Oakes, J. Gilbert, A. Bassuk, 2005, Journal of Medical Genetics.

Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy

G. Velez, A. Bassuk, S. Tsang, 2019, Scientific Reports.

Peptidomimetics Therapeutics for Retinal Disease

G. Velez, A. Bassuk, V. Mahajan, 2021, Biomolecules.

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

Ulrich Stephani, Andre Franke, Heather C. Mefford, 2010, PLoS genetics.

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

G. Velez, A. Bassuk, V. Mahajan, 2018, bioRxiv.

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

G. Velez, A. Bassuk, V. Mahajan, 2019, Genetics research.

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

A. Bassuk, S. Tsang, V. Mahajan, 2019, Human molecular genetics.

PRICKLE1 Interaction with SYNAPSIN I Reveals a Role in Autism Spectrum Disorders

Vinit B. Mahajan, J. Robert Manak, Heather C. Mefford, 2013, PloS one.

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

G. Velez, A. Bassuk, S. Tsang, 2019, Investigative ophthalmology & visual science.

Activation of the granulocyte-macrophage colony-stimulating factor promoter in T cells requires cooperative binding of Elf-1 and AP-1 transcription factors

C. Y. Wang, A. Bassuk, C. Thompson, 1994, Molecular and cellular biology.

HeyL promotes neuronal differentiation of neural progenitor cells

Alexander G Bassuk, A. Bassuk, J. Kessler, 2011, Journal of neuroscience research.

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

A. Bassuk, S. Tsang, V. Mahajan, 2019, Orphanet Journal of Rare Diseases.

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

J. Rosenfeld, L. Shaffer, M. Scott, 2011, American journal of human genetics.

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

A. Bassuk, P. Ferguson, A. Pieper, 2018, eNeuro.

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

G. Velez, A. Bassuk, V. Mahajan, 2017, PloS one.

CRISPR Base Editing in Induced Pluripotent Stem Cells.

A. Bassuk, S. Tsang, V. Mahajan, 2019, Methods in molecular biology.

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

A. Bassuk, Bernd Fritzsch, Jennifer Kersigo, 2017, PloS one.

Gene Therapy Restores Mfrp and Corrects Axial Eye Length

G. Velez, A. Bassuk, S. Tsang, 2017, Scientific Reports.

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

Michael G. Anderson, L. Evans, A. Bassuk, 2020, Heliyon.

Calpains as mechanistic drivers and therapeutic targets for ocular disease.

G. Velez, A. Bassuk, V. Mahajan, 2022, Trends in molecular medicine.

Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase

G. Carvill, I. Scheffer, H. Mefford, 2015, PLoS genetics.

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

G. Velez, Jesse D. Sengillo, A. Bassuk, 2018, Orphanet Journal of Rare Diseases.

Personalized Proteomics for Precision Health: Identifying Biomarkers of Vitreoretinal Disease

Daniel A. Machlab, G. Velez, A. Bassuk, 2018, Translational vision science & technology.

Defective Motile Cilia in Prickle2-Deficient Mice

A. Bassuk, V. Mahajan, Terry C. Yin, 2014, Journal of neurogenetics.

T-cell lymphoma presenting with neurologic features in immunocompetent children.

A. Bassuk, N. Mohile, C. Stack, 2006, Pediatric neurology.

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

A. Bassuk, J. Murray, Bernd Fritzsch, 2013, Molecular genetics & genomic medicine.

CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials

Katherine J. Wert, G. Velez, A. Bassuk, 2019, Human mutation.

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

H. Fuchs, G. Velez, A. Bassuk, 2019, Proceedings of the National Academy of Sciences.

In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome

Y. Z. Chen, A. Bassuk, P. Chance, 2006, Neurogenetics.

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

T. Shaikh, A. Bassuk, B. Darbro, 2014, Tremor and other hyperkinetic movements.

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure

F. Andermann, A. Bassuk, R. Michelucci, 2009, Annals of neurology.

Gene therapy for Rett syndrome

A. Bassuk, 2021, Genes, brain, and behavior.

Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia

A. Bassuk, V. Mahajan, J. Murray, 2010, American journal of medical genetics. Part A.

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

M. Howard, A. Bassuk, S. Tsang, 2016, Human molecular genetics.

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

A J Agopian, Dhruv B. Sharma, G. Shaw, 2019, Human molecular genetics.

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

J. J. McAnany, Katherine J. Wert, G. Velez, 2018, Free radical biology & medicine.

34 – Neurogenetics in the Genome Era

A. Bassuk, J. Milunsky, A. Gropman, 2017 .

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

G. Velez, A. Bassuk, V. Mahajan, 2020, American journal of ophthalmology case reports.

Pediatric Neurology Research in the Twenty-First Century: Status, Challenges, and Future Directions Post-COVID-19.

B. Schlaggar, B. Kosofsky, A. Bassuk, 2020, Pediatric neurology.

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

G. Velez, A. Bassuk, V. Mahajan, 2020, Cell reports.

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

L. Evans, A. Bassuk, V. Mahajan, 2020, Investigative ophthalmology & visual science.

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

A. Bassuk, F. Sutterwala, T. Burns, 2014, Proceedings of the National Academy of Sciences.

A. Bassuk, M. H. Fox, 2014 .

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

Michael G. Anderson, L. Evans, A. Bassuk, 2019, Investigative ophthalmology & visual science.

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

G. Velez, A. Bassuk, S. Tsang, 2017, American journal of ophthalmology.

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

J. Nathans, Yanshu Wang, A. Bassuk, 2016, Developmental biology.

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

L. Evans, A. Bassuk, Ariel M. Roghair, 2021, Frontiers in Molecular Neuroscience.

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

Jesse D. Sengillo, A. Bassuk, S. Tsang, 2018, Methods in molecular biology.

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

Michael G. Anderson, L. Evans, A. Bassuk, 2020, Journal of neurotrauma.

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

A. Bassuk, L. Agostinelli, 2020, The Journal of comparative neurology.

Gene-Targeted Therapies in Pediatric Neurology: Challenges and Opportunities in Diagnosis and Delivery.

A. Bassuk, J. Soul, A. Rotenberg, 2021, Pediatric neurology.

Metabolite therapy guided by liquid biopsy proteomics delays retinal neurodegeneration

Vishnu Shankar, R. Zare, Katherine J. Wert, 2019, bioRxiv.

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

C. Saper, A. Bassuk, B. Dlouhy, 2022, The Journal of Neuroscience.

Deferoxamine-induced electronegative ERG responses

A. Bassuk, S. Tsang, V. Mahajan, 2018, Documenta Ophthalmologica.

Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome

A. Bassuk, D. Goldstein, S. Kaler, 2007, Journal of Medical Genetics.

Genome-Wide Association Mapping in Dogs Enables Identification of the Homeobox Gene, NKX2-8, as a Genetic Component of Neural Tube Defects in Humans

A. Bassuk, P. Ferguson, P. Dickinson, 2013, PLoS genetics.

Proteomic analysis of elevated intraocular pressure with retinal detachment

G. Velez, A. Bassuk, S. Tsang, 2017, American journal of ophthalmology case reports.

Insights into Retinal Development Using Live Imaging in Female Carriers of Choroideremia.

Katherine J. Wert, A. Bassuk, S. Tsang, 2019, Ophthalmic surgery, lasers & imaging retina.

Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia

G. Velez, A. Bassuk, S. Tsang, 2017, Molecular genetics & genomic medicine.

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

A. Bassuk, S. Tsang, V. Mahajan, 2016, Molecular therapy : the journal of the American Society of Gene Therapy.

Mechanisms of prickle1a function in zebrafish epilepsy and retinal neurogenesis

A. Bassuk, D. Slusarski, Shu-Biao Wu, 2013, Disease Models & Mechanisms.

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

A. Bassuk, L. Muthuswamy, C. Yung, 2013, Human molecular genetics.

Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate

A. Bassuk, V. Mahajan, B. Darbro, 2016, PloS one.

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

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

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

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction

T. Wassink, A. Bassuk, D. Mohapatra, 2013, Molecular Psychiatry.

Corrigendum and follow-up: Whole genome sequencing of multiple CRISPR-edited mouse lines suggests no excess mutations

A. Bassuk, S. Tsang, V. Mahajan, 2018, bioRxiv.

Deeper sequencing at unexpected CRISPR/Cas9 off-target sites in vivo : A response to Editas, Intellia, Beacon, ToolGen and others

A. Bassuk, S. Tsang, V. Mahajan, 2017 .

Dual function of Sox1 in telencephalic progenitor cells.

A. Bassuk, Li-Ru Zhao, J. Kessler, 2007, Developmental biology.

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

G. Velez, A. Bassuk, S. Tsang, 2016, Journal of structural biology.

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

A. Bassuk, K. M. Nukala, J. Manak, 2023, Cell reports.

A direct physical association between ETS and AP-1 transcription factors in normal human T cells.

A. Bassuk, J. Leiden, J M Leiden, 1995, Immunity.

Autologous stem cell therapy for inherited and acquired retinal disease.

Jesse D. Sengillo, A. Bassuk, S. Tsang, 2018, Regenerative medicine.

Drug repositioning in epilepsy reveals novel antiseizure candidates

A. Bassuk, H. Kawasaki, J. Michaelson, 2018, Annals of clinical and translational neurology.

Is LMNB1 a Susceptibility Gene for Neural Tube Defects in Humans?

A. Bassuk, N. Greene, A. Copp, 2013, Birth defects research. Part A, Clinical and molecular teratology.

SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects

J. Gilbert, D. McClay, A. Bassuk, 2005, Human Genetics.

Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele

A. Bassuk, J. Kessler, T. George, 2005, Genetics in Medicine.

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

A. Bassuk, S. Tsang, V. Mahajan, 2018, Retina.

CRISPR-Mediated Ophthalmic Genome Surgery

Jesse D. Sengillo, A. Bassuk, S. Tsang, 2017, Current Ophthalmology Reports.

NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects

C. Walsh, K. Devriendt, J. Gusella, 2007, PLoS genetics.

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

Victoria E. Jackson, M. Brown, J. Reveille, 2020, Nature Communications.

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

G. Velez, A. Bassuk, V. Mahajan, 2021, The Journal of clinical investigation.

Genetic basis of neural tube defects.

A. Bassuk, Z. Kibar, 2009, Seminars in pediatric neurology.

The genetics of tethered cord syndrome

D. Stephan, A. Bassuk, J. Charrow, 2005, American journal of medical genetics. Part A.

Research Letter The Genetics of Tethered Cord Syndrome

A. Bassuk, 2005 .

ETS transcription factor knockouts: A review

A. Bassuk, 1999 .

Physical interactions between Ets and NF-kappaB/NFAT proteins play an important role in their cooperative activation of the human immunodeficiency virus enhancer in T cells

A. Bassuk, J. Leiden, R. Anandappa, 1997, Journal of virology.

The role of Ets transcription factors in the development and function of the mammalian immune system.

A. Bassuk, J. Leiden, J M Leiden, 1997, Advances in immunology.

Neuroimaging findings in children with rare or novel de novo chromosomal anomalies.

L. Shaffer, A. Bassuk, J. Coppinger, 2008, Birth defects research. Part A, Clinical and molecular teratology.

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

H. Kiyonari, J. Axelrod, A. Bassuk, 2012, Developmental biology.

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

M. Adams, A. Fasano, A. Bassuk, 2009, American journal of human genetics.

Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2.

J. Gilbert, A. Bassuk, E. Linney, 2005, Birth defects research. Part A, Clinical and molecular teratology.

A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay

Brian Brooks, Vinit B. Mahajan, Lokesh Gakhar, 2018, Cold Spring Harbor molecular case studies.

Phenotypic variance in Calpain-5 retinal degeneration

Katherine J. Wert, A. Bassuk, S. Tsang, 2020, American journal of ophthalmology case reports.

Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses

G. Velez, A. Bassuk, S. Tsang, 2016, Investigative ophthalmology & visual science.

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

Katherine J. Wert, A. Bassuk, S. Tsang, 2015, Human molecular genetics.

Structural Modeling of a Novel CAPN5 Mutation that Causes Uveitis and Neovascular Retinal Detachment

A. Bassuk, S. Tsang, V. Mahajan, 2015, PloS one.

Calpain-5 Mutations Cause Autoimmune Uveitis, Retinal Neovascularization, and Photoreceptor Degeneration

V. Sheffield, A. Bassuk, V. Mahajan, 2012, PLoS genetics.

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

M. Scott, J. Axelrod, A. Bassuk, 2008, American journal of human genetics.

Input–output connections of LJA5 prodynorphin neurons

A. Bassuk, T. Scammell, M. Hefti, 2020, The Journal of comparative neurology.

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

A. Bassuk, J. Church, P. Ferguson, 2013, Journal of Clinical Immunology.

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

Charles Lee, N. Jafari, A. Bassuk, 2008, Human Genetics.

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

I. Scheffer, H. Mefford, A. Bassuk, 2013, American journal of medical genetics. Part A.

Systemic lymphoma mimicking acute disseminated encephalomyelitis.

A. Bassuk, D. Burrowes, G. Keating, 2004, Pediatric neurology.

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

A. Bassuk, P. Ferguson, Zili Luo, 2021, Journal of neuroinflammation.

Neural Tube Defects and Folate Pathway Genes: Family-Based Association Tests of Gene–Gene and Gene–Environment Interactions

J. Gilbert, H. Nijhout, M. Reed, 2006, Environmental health perspectives.

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

A. Bassuk, Bernd Fritzsch, Tian Yang, 2013, Developmental dynamics : an official publication of the American Association of Anatomists.

TERC is not a major gene in human neural tube defects.

J. Gilbert, A. Bassuk, J. Kessler, 2004, Birth defects research. Part A, Clinical and molecular teratology.

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

A. Bassuk, Brittany P. Todd, 2018, Journal of neurogenetics.

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

J. Axelrod, D. Gubb, A. Bassuk, 2014, Proceedings of the National Academy of Sciences.

Neuropathophysiological Mechanisms and Treatment Strategies for Post-traumatic Epilepsy

A. Bassuk, Shaunik Sharma, Grant C Tiarks, 2021, Frontiers in Molecular Neuroscience.

Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy

Diane B. Zastrow, M. Wheeler, S. Montgomery, 2021, Journal of neurogenetics.

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

A. Bassuk, J. Glykys, R. Cornell, 2021, Epilepsia open.

Acute necrotizing encephalopathy of childhood with radiographic progression over 10 hours

A. Bassuk, D. Burrowes, W. McRae, 2003, Neurology.

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

G. Velez, A. Bassuk, S. Tsang, 2016, Human molecular genetics.

Caring for Hereditary Childhood Retinal Blindness

A. Bassuk, S. Tsang, V. Mahajan, 2018, Asia-Pacific journal of ophthalmology.

Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy–Walker Malformation and Occipital Cephaloceles

Alberto Maria Segre, J. Cremer, A. Bassuk, 2013, Human mutation.

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

A. Bassuk, S. Tsang, V. Mahajan, 2020, Orphanet Journal of Rare Diseases.

Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction

T. Wassink, A. Bassuk, D. Mohapatra, 2014, Molecular Psychiatry.

Erratum: Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction (Molecular Psychiatry (2013) 18 (1077-1089) DOI: 10.1038/mp.2013.71)

T. Wassink, A. Bassuk, D. Mohapatra, 2014 .

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

A. Bassuk, V. Mahajan, 2016, American journal of human genetics.

Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a RhoD190N mutation

G. Velez, A. Bassuk, V. Mahajan, 2019, Cellular and Molecular Life Sciences.

Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a RhoD190N mutation

G. Velez, A. Bassuk, S. Tsang, 2019, Cellular and Molecular Life Sciences.

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

Jesse D. Sengillo, A. Bassuk, S. Tsang, 2018, Aging cell.

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

A. Bassuk, S. Tsang, V. Mahajan, 2016, Human molecular genetics.

S0016672319000065jra 1..8

G. Velez, A. Bassuk, V. Mahajan, 2019 .

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

G. Velez, A. Bassuk, V. Mahajan, 2017, PLoS ONE.

Missense mutations in the MLKL ‘brace’ region lead to lethal neonatal inflammation in mice and are present in high frequency in humans

M. Brown, J. Reveille, A. Bassuk, 2019, bioRxiv.

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

Katherine J. Wert, A. Bassuk, S. Tsang, 2016, Signal Transduction and Targeted Therapy.

Expression Pattern of the Ets-related Transcription Factor Elf-1

A. Bassuk, M. Lu, J. Leiden, 1998, Molecular medicine.

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

A. Bassuk, S. Tsang, V. Mahajan, 2018, Retinal cases & brief reports.

Therapeutic drug repositioning using personalized proteomics of liquid biopsies.

G. Velez, A. Bassuk, S. Tsang, 2017, JCI insight.

Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy

Young H. Kwon, A. Bassuk, S. Tsang, 2016, Clinical ophthalmology.

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

Katherine J. Wert, A. Bassuk, S. Tsang, 2014, Human molecular genetics.

Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy

A. Bassuk, V. Mahajan, Hannah A Rowell, 2012, Clinical ophthalmology.

Genetic Analysis and Phenotypic Staging of Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy

V. Sheffield, A. Bassuk, V. Mahajan, 2011 .

Lacosamide decreases neonatal seizures without increasing apoptosis

A. Bassuk, J. Glykys, Shaunik Sharma, 2022, Epilepsia.

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

A. Bassuk, S. Tsang, V. Mahajan, 2016, Scientific Reports.

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

A. Bassuk, Bernd Fritzsch, S. Stricker, 2014, Cell and Tissue Research.

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

Daniel A. Machlab, G. Velez, A. Bassuk, 2018, PloS one.

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

A. Bassuk, P. Drapeau, E. Merello, 2011, Human mutation.

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

L. Evans, A. Bassuk, P. Ferguson, 2020, Journal of neurotrauma.

Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene

A. Bassuk, B. Burton, D. Burrowes, 2003, Neurology.

The non-canonical Wnt ligand Wnt5a rescues morphological deficits in Prickle2-deficient hippocampal neurons

A. Bassuk, D. Mohapatra, J. Wemmie, 2013, Molecular Psychiatry.

Investigation of Cas9 antibodies in the human eye

H. Nakauchi, A. Bassuk, V. Mahajan, 2022, Nature Communications.

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

A. Bassuk, J. Church, P. Ferguson, 2013, Journal of Clinical Immunology.

TMPRSS2 structure-phylogeny repositions Avoralstat for SARS-CoV-2 prophylaxis in mice

G. Velez, A. Bassuk, V. Mahajan, 2021, bioRxiv.

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

A. Bassuk, S. McKnight, J. Shao, 2014, Cell reports.

Autosomal dominant occipital cephalocele

A. Bassuk, J. Kessler, D. Mclone, 2004, Neurology.

Acute vitreoretinal trauma and inflammation after traumatic brain injury in mice

L. Evans, A. Bassuk, S. Tsang, 2018, Annals of clinical and translational neurology.

Novel mutations in VANGL1 in neural tube defects

A. Bassuk, R. Finnell, P. Gros, 2009, Human mutation.

Proteomic Analysis of Autoimmune Retinopathy Implicates Neuronal Cell Adhesion Molecule as a Potential Biomarker

G. Velez, A. Bassuk, S. Tsang, 2022, Ophthalmology science.

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

A. Bassuk, Bernd Fritzsch, S. Stricker, 2014, Cell and Tissue Research.

PRICKLE2 revisited—further evidence implicating PRICKLE2 in neurodevelopmental disorders

A. Bassuk, G. Rubboli, R. Møller, 2021, European Journal of Human Genetics.

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

A. Bassuk, S. Tsang, V. Mahajan, 2019, Ophthalmic surgery, lasers & imaging retina.

Presence of Epilepsy-Associated Variants in Large Exome Databases

M. Bamshad, A. Bassuk, P. Ferguson, 2013, Journal of neurogenetics.

Calpain-5 gene expression in the mouse eye and brain

A. Bassuk, S. Tsang, V. Mahajan, 2017, BMC Research Notes.

Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy

G. Velez, A. Bassuk, S. Tsang, 2019, Scientific Reports.

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

Alexander G Bassuk, Gabriel Velez, G. Velez, 2016, JAMA ophthalmology.

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

J. Mullikin, A. Bassuk, W. Gahl, 2016, Annals of clinical and translational neurology.

Genome Editing in the Retina: A Case Study in CRISPR for a Patient-Specific Autosomal Dominant Retinitis Pigmentosa Model

A. Bassuk, S. Tsang, V. Mahajan, 2016 .

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

V. Sheffield, A. Bassuk, D. Slusarski, 2014, Developmental biology.

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

A. Bassuk, T. Nickl-Jockschat, J. Harty, 2023, Acta Neuropathologica Communications.

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

A. Bassuk, T. Nickl-Jockschat, J. Harty, 2023, bioRxiv.

CIRCLE-seq: a highly sensitive in vitro screen for genome-wide CRISPR-Cas9 nuclease off-targets

J. Joung, A. Bassuk, S. Tsai, 2017, Nature Methods.

Modulation of post-traumatic immune response using anti-IL-1 therapy for improved visual outcomes: Anti-IL-1 improves post-traumatic visual outcomes

Michael G. Anderson, L. Evans, A. Bassuk, 2019, bioRxiv.

A novel RPGR mutation masquerading as Stargardt disease

A. Bassuk, S. Tsang, V. Mahajan, 2014, British Journal of Ophthalmology.

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

Michael G. Anderson, L. Evans, A. Bassuk, 2019, Investigative ophthalmology & visual science.

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

A. Bassuk, Shaunik Sharma, Grant Tiarks, 2023, Bio-protocol.

Neuroprotective Effects of Naltrexone in a Mouse Model of Post-Traumatic Epilepsy

A. Bassuk, Shaunik Sharma, P. J. Ferguson, 2023, bioRxiv.

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

A. Bassuk, T. Nickl-Jockschat, J. Harty, 2023, Acta Neuropathologica Communications.

Liquid-biopsy proteomics combined with AI identifies cellular drivers of eye aging and disease in vivo

N. Aghaeepour, A. Bassuk, V. Mahajan, 2023, Cell.

Human Mutation

Katherine J. Wert, G. Velez, A. Bassuk, 2019 .