Author

Richard Chang

Institution: Children's Hospital of Orange County

Observed institution: Children's Hospital of Orange County

ORCID: 0000-0002-6920-8059

Observed ORCID: 0000-0002-6920-8059

OpenAlex ID: A5136176791

Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials

2026 · Mattias Rudebeck, Nancy Braverman, et al. · Journal of Inherited Metabolic Disease · 4

Domain-associated phenotypic patterns with MACF1 variants

2026 · Nikhita Gogate, Angad Jolly, et al. · Genetics in Medicine · 1

“It didn’t feel like anything unusual because we had already been through so much”: Disability-related research experiences of families with children enrolled in the undiagnosed diseases network

2026 · Kevin T. Mintz, Elisa N. Altamirano, et al. · Genetics in Medicine · 1

Not the end of the road: Achieving diagnoses following nondiagnostic exome sequencing: Experiences at a clinical site of the Undiagnosed Diseases Network

2026 · Rebecca C. Spillmann, Nicole Walley, et al. · Genetics in Medicine

Use of enasidenib in a 5-week-old male with type II D-2-hydroxyglutaric aciduria

2026 · Ozlem Turedi, Ryan Mahoney, et al. · Molecular Genetics and Metabolism

Biallelic ACER3 Variants Cause Infantile- and Early-Childhood-Onset Neurodegeneration with Leukodystrophy

2026 · Rauan B. Kaiyrzhanov, Ruijuan Xu, et al. · SSRN Electronic Journal

Works count: 6

Citation count: 6

H-index: 1

I10-index: