Angela P. Sun

Medical Genetics | Pediatrics

3333 Burnet Ave
Cincinnati, OH 45229

Last Updated: 09/26/2026

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Found 24 publications

First-in-human nuclease-free homologous recombination-dependent gene editing in pediatric patients with methylmalonic acidemia: results of a phase 1/2 study.

First-in-human nuclease-free homologous recombination-dependent gene editing in pediatric patients with methylmalonic acidemia: results of a phase 1/2 study.

Journal: Gene therapy

Published: August 22, 2025

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.

Journal: NPJ genomic medicine

Published: September 18, 2024

Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.

Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.

Journal: Orphanet journal of rare diseases

Published: December 17, 2023

Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.

Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.

Journal: Molecular genetics and metabolism

Published: November 04, 2023

A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.

A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.

Journal: Molecular genetics and metabolism

Published: April 26, 2022

Targeted long-read sequencing identifies missing disease-causing variation.

Targeted long-read sequencing identifies missing disease-causing variation.

Journal: American journal of human genetics

Published: April 06, 2021

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 05, 2021

A lasting imprint.

A lasting imprint.

Journal: American journal of medical genetics. Part A

Published: February 07, 2021

Co-occurrence of Metachromatic Leukodystrophy in Phelan-McDermid Syndrome.

Co-occurrence of Metachromatic Leukodystrophy in Phelan-McDermid Syndrome.

Journal: Journal of child neurology

Published: September 29, 2020

Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders.

Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders.

Journal: JPEN. Journal of parenteral and enteral nutrition

Published: July 09, 2020

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.

Journal: The Journal of pediatrics

Published: March 02, 2020

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.

Journal: American journal of medical genetics. Part A

Published: January 21, 2020

Showing 1-12 of 24

Last Updated: 09/26/2026