E. Brimble

发表

Use of electronic medical record templates improves quality of care for patients with infantile spasms

C. Wusthoff, J. Santoro, A. G. Sandoval Karamian, 2018, Health information management : journal of the Health Information Management Association of Australia.

Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome

Jason A Hendry, E. Brimble, E. Strong, 2015, Molecular Brain.

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

M. Ekker, C. Ross, W. Wasserman, 2019, Brain : a journal of neurology.

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

E. van Binsbergen, S. Twigg, A. Wilkie, 2019, American journal of human genetics.

The Deciphering Developmental Disorders Study (2019). De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. American Journal of Human Genetics 104 (4),

M. V. Dooren, S. Twigg, A. Wilkie, 2019 .

The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield

I. Scheffer, D. Goldstein, H. Goodkin, 2019, Epilepsia.

TDAG51 mediates epithelial-to-mesenchymal transition in human proximal tubular epithelium.

E. Brimble, Limin Liu, R. Austin, 2012, American journal of physiology. Renal physiology.

ER stress contributes to renal proximal tubule injury by increasing SREBP-2-mediated lipid accumulation and apoptotic cell death.

E. Brimble, A. Ingram, R. Austin, 2012, American journal of physiology. Renal physiology.

Case Studies in Neuroscience: A Novel Amino Acid Duplication in the N-terminus of the Brain Sodium Channel NaV1.1 Underlying Dravet Syndrome.

P. Ruben, E. Brimble, D. Poburko, 2019, Journal of neurophysiology.

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

M. Tejada, M. Ruzhnikov, E. Brimble, 2021, Human mutation.

Inhibition of histone deacetylation with vorinostat does not prevent tunicamycin-mediated acute kidney injury

E. Brimble, J. Dickhout, Chao Lu, 2021, PloS one.

4-Phenylbutyrate Inhibits Tunicamycin-Induced Acute Kidney Injury via CHOP/GADD153 Repression

E. Brimble, A. Ingram, K. Ask, 2014, PloS one.

Metabolic Disorders Presenting with Seizures in the Neonatal Period

M. Ruzhnikov, E. Brimble, M. Ruzhnikov, 2020, Seminars in Neurology.

Early Signs and Symptoms of Leukodystrophies: A Case-Based Guide

M. Ruzhnikov, E. Brimble, R. Hickey, 2021, Pediatrics in Review.

Endoplasmic reticulum stress inhibition limits the progression of chronic kidney disease in the Dahl salt-sensitive rat.

E. Brimble, K. Ask, J. Dickhout, 2017, American journal of physiology. Renal physiology.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.

E. Ashley, M. Wheeler, G. Enns, 2018, The Journal of pediatrics.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Ellen F. Macnamara, L. Vissers, B. D. de Vries, 2019, American journal of human genetics.

Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related Disorder

C. Lee-Messer, M. Ruzhnikov, E. Brimble, 2018, Molecular Syndromology.

Computation of longitudinal phenotypes in 466 individuals with a developmental and epileptic encephalopathy enables clinical trial readiness

E. Brimble, D. McKnight, J. Kim, 2023, medRxiv.

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

A. Vanderver, Y. Crow, D. Lev, 2020, Human mutation.

Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system

Tanya L. Brown, E. Brimble, Kim Nye, 2023, Frontiers in Genetics.

Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome

Jason A Hendry, E. Brimble, E. Strong, 2015, Molecular Brain.

Expanding genotype–phenotype correlations in FOXG1 syndrome: results from a patient registry

I. Scheffer, O. Devinsky, M. Ruzhnikov, 2023, Orphanet Journal of Rare Diseases.

The patient-specific mouse model with Foxg1 frameshift mutation uncovers the pathophysiology of FOXG1 syndrome

E. Brimble, S. Clark, Soo-Kyung Lee, 2023, Research square.

Expanding the molecular and clinical phenotypes of FUT8‐CDG

S. Robertson, H. Freeze, M. Faghihi, 2020, Journal of inherited metabolic disease.

Validation and clinical discovery demonstration of a real-world data extraction platform

E. Brimble, S. Alan, L. Henderson, 2023, medRxiv.

Human Mutation

A. Vanderver, H. Brunner, P. Fockens, 2019 .