David A. Sweetser

Pediatrics

55 Fruit St
Boston, MA 02114

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 61 publications

Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.

Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.

Journal: The Journal of clinical investigation

Published: September 11, 2025

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.

Journal: medRxiv : the preprint server for health sciences

Published: July 16, 2025

Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population.

Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population.

Journal: American journal of human genetics

Published: June 25, 2025

LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

Journal: Clinical genetics

Published: March 27, 2025

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency Presenting as Hyperammonemia and Encephalopathy: Case Series.

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency Presenting as Hyperammonemia and Encephalopathy: Case Series.

Journal: The Neurohospitalist

Published: July 26, 2024

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.

Journal: eLife

Published: December 11, 2023

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

Journal: American journal of human genetics

Published: December 08, 2023

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

Journal: HGG advances

Published: November 13, 2023

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

Journal: American journal of human genetics

Published: August 23, 2023

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.

Journal: medRxiv : the preprint server for health sciences

Published: July 28, 2023

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.

Journal: Human genetics

Published: March 08, 2023

A Pooled Electronic Consultation Program to Improve Access to Genetics Specialists.

A Pooled Electronic Consultation Program to Improve Access to Genetics Specialists.

Journal: medRxiv : the preprint server for health sciences

Published: February 17, 2023

Showing 1-12 of 61

Last Updated: 09/26/2026