Selected Publications

Berna, R., Hasbun, T., Adams, D., Moon, A. T., & Treat, J. R: Significant improvement of a nevus spilus-type congenital melanocytic nevus with oral selumetinib. Pediatric Dermatology June 2024.

Alexandra J. Borst, Allison Britt, Denise M Adams: Complex lymphatic anomalies: Molecular landscape and medical management. Seminars in pediatric surgery June 2024.

Patricia Patura, C. Griffin McDaniel, Sara Alharbi, Dermot Fox, Bethany Coleman, Punman Malik, Denise M. Adams, Timothy D. Le Cras: NRASQ61R mutation drives elevated angiopoietin-2 expression in human endothelial cells and a genetic mouse model. Pediatric Blood & Cancer May 2024.

94. Guillaume Canaud, Lola Zerbib, Sophia Ladraa, Antoine Fraissenon, Charles Bayard, Marina Firpion, Quitterie Venot, Sanela Protic, Clement Hoguin, Amandine Thomas, Sylvie Fraitag, Jean Paul Duong, Sophie Kaltenbach, Patrick Villarese, Vahid Asnafi, Christine Broissand, Nicolas Goudin, Ivan Nemazanyy, Gwennhael Autret, Bertrand Tavitian, Christophe Legendre, Nadia Arzouk, Veronique Minard-Colin, Caroline Chopinet, Michael Dussiot, Denise Adams, Laurent Guibaud, Paul Isenring, Estelle Balducci, Coline Lefevre, and Tristan Mirault: Targeted therapy for capillary-venous malformations. Signal Transduction and Targeted Therapy April 2024.

Soumitra Tole, Victoria Price, Denise Adams, Joao Guilherme Amaral, Manuel Carcao: Chapter 12: Hemostatic and Thrombotic Challenges in Vascular Anomalies. SickKids Handbook 2024.

Bede N. Nriagu, Lydia S. Williams, Niambi Brewer, Lea F. Surrey, Abhay S. Srinivasan, Dong Li, Allison Britt, James Treat, T. Blaine Crowley, Nora O'Connor, Arupa Ganguly, David Low, Maria Queenan, Theodore G. Drivas, Elaine H. Zackai, Denise M. Adams, Hakon Hakonarson, Kristen M. Snyder, Sarah E. Sheppard: Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA. American Journal of Medical Genetics Part A September 2023.

Guillaume Canaud, Juan Carlos Lopez Gutierrez, Alan D. Irvine, Pierre Vabres, Jordan R. Hansford, Nii Ankrah, Fabrice Branle, Athanasia Papadimitriou, Antonia Ridolfi, Paul O’Connell, Stuart Turner, Denise M. Adams: Alpelisib for Treatment of Patients With PIK3CA-Related Overgrowth Spectrum (PROS). Genetics in Medicine August 2023.

Li D, Sheppard SE, March ME, Battig MR, Surrey LF, Srinivasan AS, Matsuoka LS, Tian L, Wang F, Seiler C, Dayneka J, Borst AJ, Matos MC, Paulissen SM, Krishnamurthy G, Nriagu B, Sikder T, Casey M, Williams L, Rangu S, O'Connor N, Thomas A, Pinto E, Hou C, Nguyen K, Pellegrino da Silva R, Chehimi SN, Kao C, Biroc L, Britt AD, Queenan M, Reid JR, Napoli JA, Low DM, Vatsky S, Treat J, Smith CL, Cahill AM, Snyder KM, Adams DM, Dori Y, Hakonarson H.: Genomic profiling informs diagnoses and treatment in vascular anomalies. Nat Med June 2023.

Grenier JM, Borst AJ, Sheppard SE, Snyder KM, Li D, Surrey LF, Al-Ibraheemi A, Weber DR, Treat JR, Smith CL, Laje P, Dori Y, Adams DM, Acord M, Srinivasan AS.: Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly. Pediatr Blood Cancer. May 2023.

McDaniel CG, Adams DM, Steele KE, Hammill AM, Merrow AC, Crane JL, Smith CL, Kozakewich HPW, Le Cras TD: Kaposiform lymphangiomatosis: Diagnosis, pathogenesis, and treatment. Pediatr Blood Cancer April 2023.