IreneJoanChangMD

Clinical Biochemical Genetics, Clinical Genetics, Medical Biochemical Genetics

Physician

Dr. Chang is on Doximity

As a Doximity member you'll join over two million verified healthcare professionals in a private, secure network.

Gain access to free telehealth tools, such as our “call shielding” and one-way patient texting.
Connect with colleagues in the same hospital or clinic.
Read the latest clinical news, personalized to your specialty.

Acetazolamide Efficacy in Ataxia in PMM2-CDG Start of enrollment: 2021 Mar 17
Terminated
Phase 2, Phase 3

PubMed

8 citations
Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.
Irene J. Chang, Angela Sun, Maryse Bouchard, Shawn E. Kamps, Susan Hale
American Journal of Medical Genetics. Part A. 2018-07-01
149 citations
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.
Nynke Oosterhof, Irene J. Chang, Ehsan Ghayoor Karimiani, Laura E. Kuil, Dana M. Jensen
American Journal of Human Genetics. 2019-05-02
22 citations
Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots.
Christopher J. Collins, Irene J. Chang, Sunhee Jung, Remwilyn Dayuha, Jeffrey R. Whiteaker
Frontiers in Immunology. 2018-12-04

Journal Articles

Novel Phenotype of Achondroplasia Due to Biallelic FGFR3 Pathogenic Variants
Maryse L Bouchard, Shawn E Kamps, Michael J Goldberg, Irene J Chang, Ian A Glass, Stephen Done, American Journal of Medical Genetics Part A