I am interested in expanding human knowledge and understanding the mechanisms that underlie pathology. My specific areas of interest are developmental genetics, dysmorphology, and syndrome delineation. I believe that this is best achieved through collaborations with clinicians and researchers in various disciplines, as well as involvement of patients and their families.
Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay
Clinical Kidney Journal
DOI: 10.1093/ckj/sfae211
2024
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines
Prenatal Diagnosis
DOI: 10.1002/pd.6232
2022
The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery
American Journal of Medical Genetics, Part A
DOI: 10.1002/ajmg.a.62716
2022
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants
American Journal of Medical Genetics Part A
Caitlin A. Chang and Renee Perrier and Kyle C. Kurek and Juvianee Estrada-Veras and Anna Lehman and Stephen Yip and Glenda Hendson and Carol Diamond and Jason W. Pinchot and Jennifer M. Tran and Lisa M. Arkin and Beth A. Drolet and Melanie P. Napier and Sarah A. O'Neill and Tugce B. Balci and Kim M. Keppler-Noreuil
DOI: 10.1002/ajmg.a.62356
09/2021
Bilateral Nephroblastic Tumors and a Complex Renal Vascular Anomaly in a Patient With a Mosaic RASopathy: Novel Histopathologic Features and Molecular Insights
Pediatric and Developmental Pathology
Slack, J.C. and Bründler, M.-A. and Chang, C.A. and Perrier, R. and Lafay-Cousin, L. and Kurek, K.C.
DOI: 10.1177/1093526620986502
2021
Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families
American Journal of Medical Genetics, Part A
Chang, C.A. and Di Donato, N. and Hackmann, K. and Argiropoulos, B. and Ferreira, P. and Innes, A.M. and Thomas, M.A.
DOI: 10.1002/ajmg.a.61898
2020
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome
Alharatani R and Ververi A and Beleza-Meireles A and Ji W and Mis E and Patterson QT and Griffin JN and Bhujel N and Chang CA and Dixit A and Konstantino M and Healy C and Hannan S and Liu KJ
DOI: 10.1101/711184
07/2019
Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation
JIMD Reports
Chang, C.A. and Wei, X.-C. and Martin, S.R. and Sinasac, D.S. and Al-Hertani, W.
DOI: 10.1002/jmd2.12064
2019
Mechanical stretch upregulates connexin43 in human trabecular meshwork cells
Clinical and Experimental Ophthalmology
Tellios, N. and Feng, M. and Chen, N. and Liu, H. and Tellios, V. and Wang, M. and Li, X. and Chang, C.A. and Hutnik, C.
DOI: 10.1111/ceo.13492
2019
An ACSL4 Hemizygous Intragenic Deletion in a Patient With Childhood Stroke
Pediatric Neurology
Chang, C.A. and Lauzon, J. and Kirton, A. and Argiropoulos, B.
DOI: 10.1016/j.pediatrneurol.2019.06.014
2019
Mechanisms of benzalkonium chloride toxicity in a human trabecular meshwork cell line and the protective role of preservative-free tafluprost
Clinical and Experimental Ophthalmology
Chang, C. and Zhang, A.Q. and Kagan, D.B. and Liu, H. and Hutnik, C.M.L.
DOI: 10.1111/ceo.12390
2015
Isolated Horner Syndrome from an Elongated Styloid Process (Eagle Syndrome)
Journal of Neuro-Ophthalmology
Chang, C.A. and Lin, T. and Fung, K. and Sharma, M. and Fraser, J.A.
DOI: 10.1097/WNO.0000000000000260
2015
EpiSign–CAN Study
I am a local investigator for the EpiSign–CAN study (Assessing the Improvement in Diagnosis of Rare Diseases using Clinical Epigenomics in Canada). The goal of the study is to validate the use of the EpiSign test in the diagnosis of rare genetic diseases. The EpiSign test is a clinically validated method for whole-genome epigenetic testing, comparing methylation changes across a patient’s genome to known epigenetic signatures of key disorders.
Natural History Survey
I am a lead investigator in a collaborative effort with members of the Nager syndrome community to develop a natural history survey based on patient-reported outcome measures.
Precision Medicine Podcasts
I am a lead on an educational study on Precision Medicine podcasts in a Postgraduate Medical Education setting, which I helped to co-develop and produce.
A pan-Canadian team has developed a new way to quickly find personalized treatments for young cancer patients, by growing their tumours in chicken eggs and analyzing their proteins.
The team, led by researchers from BC Children’s Hospital Research Institute and the University of British Columbia, is the first in Canada to combine these two techniques to identify and test a drug for a young patient's tumour in time for their treatment.
We believe there’s nothing we can’t do with your support. It can take years to turn scientific breakthrough into new interventions and treatments. Funding helps speed the pace of change. When given the resources, we can bring transformative therapies – and hope – out of the laboratory and into the clinic to save and improve children’s lives.