Ingo Helbig

Pediatrics

3500 Civic Center Blvd
Philadelphia, PA 19104

Last Updated: 09/26/2026

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Found 272 publications

Monogenic epilepsies exhibit distinct sleep endophenotypes.

Monogenic epilepsies exhibit distinct sleep endophenotypes.

Journal: medRxiv : the preprint server for health sciences

Published: July 10, 2026

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: May 18, 2026

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.

Journal: medRxiv : the preprint server for health sciences

Published: April 20, 2026

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.

Journal: Science advances

Published: April 15, 2026

Characterizing SCN1A-Related Disorders Using Real-World Data Across 681 Patient-Years.

Characterizing SCN1A-Related Disorders Using Real-World Data Across 681 Patient-Years.

Journal: medRxiv : the preprint server for health sciences

Published: March 23, 2026

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

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

Journal: medRxiv : the preprint server for health sciences

Published: March 13, 2026

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

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

Journal: medRxiv : the preprint server for health sciences

Published: March 13, 2026

Shared and distinct phenotypic profiles among neurodevelopmental disorder genes.

Shared and distinct phenotypic profiles among neurodevelopmental disorder genes.

Journal: medRxiv : the preprint server for health sciences

Published: February 27, 2026

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy.

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy.

Journal: Epilepsia

Published: February 25, 2026

A prospective natural history study protocol for clinical trial readiness in synaptic disorders.

A prospective natural history study protocol for clinical trial readiness in synaptic disorders.

Journal: Epilepsia

Published: February 16, 2026

A Prospective Natural History Study Protocol for Clinical Trial Readiness in Synaptic Disorders.

A Prospective Natural History Study Protocol for Clinical Trial Readiness in Synaptic Disorders.

Journal: medRxiv : the preprint server for health sciences

Published: February 12, 2026

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy.

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy.

Journal: Annals of clinical and translational neurology

Published: December 26, 2025

Showing 1-12 of 272

Last Updated: 09/26/2026