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.


The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery
American Journal of Medical Genetics, Part A
Kontaridis, M.I. and Roberts, A.E. and Schill, L. and Schoyer, L. and Stronach, B. and Andelfinger, G. and Aoki, Y. and Axelrad, M.E. and Bakker, A. and Bennett, A.M. and Broniscer, A. and Castel, P. and Chang, C.A. and Cyganek, L. and Das, T.K. and den Hertog, J. and Galperin, E. and Garg, S. and Gelb, B.D. and Gordon, K. and Green, T. and Gripp, K.W. and Itkin, M. and Kiuru, M. and Korf, B.R. and Livingstone, J.R. and López-Juárez, A. and Magoulas, P.L. and Mansour, S. and Milner, T. and Parker, E. and Pierpont, E.I. and Plouffe, K. and Rauen, K.A. and Shankar, S.P. and Smith, S.B. and Stevenson, D.A. and Tartaglia, M. and Van, R. and Wagner, M.E. and Ware, S.M. and Zenker, M.
DOI: 10.1002/ajmg.a.62716

Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants
American Journal of Medical Genetics, Part A
Chang, C.A. and Perrier, R. and Kurek, K.C. and Estrada-Veras, J. and Lehman, A. and Yip, S. and Hendson, G. and Diamond, C. and Pinchot, J.W. and Tran, J.M. and Arkin, L.M. and Drolet, B.A. and Napier, M.P. and O'Neill, S.A. and Balci, T.B. and Keppler-Noreuil, K.M.
DOI: 10.1002/ajmg.a.62356

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome
Human Molecular Genetics
Alharatani, R. and Ververi, A. and Beleza-Meireles, A. and Ji, W. and Mis, E. and Patterson, Q.T. and Griffin, J.N. and Bhujel, N. and Chang, C.A. and Dixit, A. and Konstantino, M. and Healy, C. and Hannan, S. and Neo, N. and Cash, A. and Li, D. and Bhoj, E. and Zackai, E.H. and Cleaver, R. and Baralle, D. and McEntagart, M. and Newbury-Ecob, R. and Scott, R. and Hurst, J.A. and Au, P.Y.B. and Hosey, M.T. and Khokha, M. and Marciano, D.K. and Lakhani, S.A. and Liu, K.J.
DOI: 10.1093/HMG/DDAA050

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

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

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

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

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

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

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

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


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.