Carlos G. Vanoye

KCNH1 variants associated with neurodevelopmental disorders exhibit prominent gain-of-function

The paper investigates functional properties of KCNH1 variants linked to neurodevelopmental disorders, finding most exhibit gain-of-function characteristics.

An upstream open reading frame represses translation of the neuronal potassium channel KCNQ2

This study identifies a uORF in KCNQ2 that represses translation and shows that disrupting it enhances protein expression, with implications for disease and therapy.

Functional High Throughput Drug Screening Reveals Cyproheptadine as a Novel Treatment for LMNA -related Cardiomyopathy

This paper uses patient-derived hiPSC-CMs to identify cyproheptadine as a therapeutic for LMNA-related DCM by revealing shared and variant-specific disease mechanisms.

Combining automated patch clamp with optogenetics enables selective recording of DRG neurons subtypes

The paper develops a method combining automated patch clamp and optogenetics to selectively record from specific subtypes of mouse DRG neurons.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

Functional profiling of KCNE1 variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2

Classification models distinguish functional and trafficking effects of KCNQ1 variants to enhance variant interpretation

The paper develops classifiers to distinguish functional and trafficking effects of KCNQ1 variants, improving variant interpretation for LQTS and channelopathies.

High Throughput Screening Identifies a Small Molecule Trafficking Corrector for Long-QT Syndrome Associated KCNQ1 Variants

This study identifies a small molecule, VU0494372, that enhances KCNQ1 expression and trafficking, offering a potential therapeutic approach for LQTS.

Defining the Polycystin Pharmacophore Through HTS & Computational Biophysics.

This study identifies potent PKD2L1 antagonists through high-throughput electrophysiology and computational analysis, revealing a novel binding site and inhibition mechanism.

Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy

The paper investigates the molecular and cellular mechanisms of KCNQ2 encephalopathy through structural analysis, functional assays, and an animal model, revealing multiple pathogenic effects of the G256W variant.

Molecular and Cellular Context Influences SCN8A Variant Function

This study examines how alternative splicing and cellular context affect the functional properties of SCN8A variants associated with neurodevelopmental disorders.

Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants

The paper develops a Bayesian framework to integrate functional evidence into clinical variant interpretation for epilepsy-related ion channel genes, identifying key parameters that influence pathogenicity classification.

Epilepsy-associated SCN2A (Nav1.2) Variants Exhibit Diverse and Complex Functional Properties

The paper assesses functional properties of SCN2A variants using automated patch clamp recording, revealing complex gain- and loss-of-function patterns beyond a simple binary classification.

High-throughput Evaluation of Epilepsy-associated KCNQ2 Variants Reveals Functional and Pharmacological Heterogeneity

This study evaluates 79 KCNQ2 variants using automated patch clamp recording, revealing functional and pharmacological heterogeneity and genotype-dependent retigabine responses.

Arrhythmia variant associations and reclassifications in the eMERGE-III sequencing study

The paper identifies pathogenic variants in arrhythmia genes in eMERGE-III participants and reclassifies variants of uncertain significance using functional studies.

High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy

This study evaluates 17 KCNB1 variants associated with DEE and NDD using high-throughput assays to identify functional defects in Kv2.1 channels.

High Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance

This study evaluates KCNQ1 variants using high-throughput electrophysiology, classifying 70% of unstudied variants and showing allele frequency is not a reliable predictor of function.