Caitlin Chang

Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay

Clinical Kidney Journal

Bosman, W. and Butler, K.M. and Chang, C.A. and Ganapathi, M. and Guzman, E. and Latta, F. and Chung, W.K. and Claverie-Martin, F. and Davis, J.M. and Hoenderop, J.G.J. and de Baaij, J.H.F.

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

Cornthwaite, M. and Turner, K. and Armstrong, L. and Boerkoel, C.F. and Chang, C. and Lehman, A. and Nikkel, S.M. and Patel, M.S. and Van Allen, M. and Langlois, S.

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 Lpez-Jurez, 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.

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

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 Brndler, M.-A. and Chang, C.A. and Perrier, R. and Lafay-Cousin, L. and Kurek, K.C.

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.

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

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.

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.

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.

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.

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.