Caitlin A Chang

Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants

S. Yip, A. Lehman, K. Keppler-Noreuil, 2021, American journal of medical genetics. Part A.

Bilateral Nephroblastic Tumors and a Complex Renal Vascular Anomaly in a Patient With a Mosaic RASopathy: Novel Histopathologic Features and Molecular Insights

Jonathan C. Slack, L. Lafay-Cousin, M. Bründler, 2021, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

An ACSL4 Hemizygous Intragenic Deletion in a Patient With Childhood Stroke.

A. Kirton, B. Argiropoulos, J. Lauzon, 2019, Pediatric neurology.

The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery

B. Korf, E. I. Pierpont, B. Gelb, 2022, American journal of medical genetics. Part A.

Transiently elevated plasma methionine, S‐adenosylmethionine and S‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation

Steven R. Martin, X. Wei, D. Sinasac, 2019, JIMD reports.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

Emily K. Mis, E. Zackai, D. Baralle, 2019, bioRxiv.

Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families

A. Innes, K. Hackmann, B. Argiropoulos, 2020, American journal of medical genetics. Part A.