IreneJoanChangMD

PubMed

• 38 citations
  Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
  Al Saif, H., Janel O. Johnson, Ruth Chia, Danny E. Miller, Rachel Li, Ravindran Kumaran, Yevgeniya Abramzon, Nada Alahmady, Alan E. Renton, Simon Topp, J. Raphael Gibb...> ;JAMA Neurology. 2021 Oct 1
• 5 citations
  Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
  Sheri A. Poskanzer, Matthew J. Schultz, Coleman T. Turgeon, Noemi Vidal-Folch, Kris Liedtke, Devin Oglesbee, Dimitar Gavrilov, Silvia Tortorelli, Dietrich Matern, Pier...> ;American Journal of Medical Genetics. Part A. 2021 Jan 1
• 7 citations
  Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders.
  Marie K. Norris, Anna I. Scott, Sarah Sullivan, Irene J. Chang, Christina Lam, Angela Sun, Sihoun Hahn, Jenny Thies, Melissa Gunnarson, Kelly N. McKean, J. Lawrence Me...> ;JPEN. Journal of Parenteral and Enteral Nutrition. 2021 Feb 1
• 3 citations
  The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis.
  Sheri A. Poskanzer, Jenny Thies, Christopher J. Collins, Candace T. Myers, Remwilyn Dayuha, Phi Duong, Fan Yi, Irene J. Chang, Hans D. Ochs, Troy R. Torgerson, Si Houn...> ;Molecular Genetics & Genomic Medicine. 2020 Feb 17
• 135 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, Ray A. M. Daza, Erica Young, Lee Astle, Herma C. van der Linde, Giridhar M. Sh...> ;American Journal of Human Genetics. 2019 May 2
• 5 citations
  Factor VIII and vWF deficiency in STT3A-CDG.
  Irene J. Chang, Heather M. Byers, Bobby G. Ng, John Lawrence Merritt, Reid Gilmore, Shiteshu Shrimal, Wei Wei, Yuan Zhang, Amanda B. Blair, Hudson H. Freeze, Bin Zhang...> ;Journal of Inherited Metabolic Disease. 2019 Mar 1
• 20 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, Gesmar Rodrigues Silva Segundo, Troy R. Torgerson, Hans D. Ochs, Amanda G. ...> ;Frontiers in Immunology. 2018 Dec 4
• 117 citations
  Congenital disorders of glycosylation.
  Irene J. Chang, Miao He, Christina Lam> ;Annals of Translational Medicine. 2018 Dec 1
• 8 citations
  Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.
  Irene J. Chang, Angela Sun, Maryse Bouchard, Shawn E. Kamps, Susan Hale, Stephen Done, Michael J. Goldberg, Ian A. Glass> ;American Journal of Medical Genetics. Part A. 2018 Jul 1
• 24 citations
  COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
  Michelle C. Starr, Irene J. Chang, Laura S. Finn, Angela Sun, Austin Larson, Jens Goebel, Coral Hanevold, Jenny Thies, Johan L.K. Van Hove, Sangeeta Hingorani, Christi...> ;Pediatric Nephrology. 2018 Apr 10
• 9 citations
  Novel pregnancy‐triggered episodes of CAPOS syndrome
  Irene J. Chang, Margaret P. Adam, Suman Jayadev, Thomas D. Bird, Niranjana Natarajan, Ian A. Glass> ;American Journal of Medical Genetics. Part A. 2018 Jan 1
• 66 citations
  The Genetics of Wilson Disease
  Irene J Chang, Si Houn Hahn> ;Handbook of Clinical Neurology. 2017 Jan 1
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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