Huang L, Bichsel C, Norris AL, Thorpe J, Pevsner J, Alexandrescu S, Pinto A, Zurakowski D, Kleiman RJ, Sahin M, Greene AK, Bischoff J., 2021, Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels, Arterioscler Thromb Vasc Biol., 42(1):e27-e43. doi: 10.1161/ATVBAHA.121.316651. PMCID: PMC8702487  PubMed

Wang Y, Bae T, Thorpe J, Sherman MA, Jones AG, Cho S, Daily K, Dou Y, Ganz J, Galor A, Lobon I, Pattni R, Rosenbluh C, Tomasi S, Tomasini L, Yang X, Zhou B, Akbarian S, Ball LL, Bizzotto S, Emery SB, Doan R, Fasching L, Jang Y, Juan D, Lizano E, Luquette LJ, Moldovan JB, Narurkar R, Oetjens MT, Rodin RE, Sekar S, Shin JH, Soriano E, Straub RE, Zhou W, Chess A, Gleeson JG, Marquès-Bonet T, Park PJ, Peters MA, Pevsner J, Walsh CA, Weinberger DR; Brain Somatic Mosaicism Network, Vaccarino FM, Moran JV, Urban AE, Kidd JM, Mills RE, Abyzov A., 2021, Comprehensive identification of somatic nucleotide variants in human brain tissue, Genome Biol., 22(1):92. doi: 10.1186/s13059-021-02285-3. PMCID: PMC8006362  PubMed

Thorpe J, Frelin LP, McCann M, Pardo CA, Cohen BA, Comi AM, Pevsner J., 2021, Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome, J Invest Dermatol., 141(3):685-688. doi: 10.1016/j.jid.2020.03.978. PMCID: PMC8483769  PubMed

Osei-Owusu, IA., Norris, AL., Joynt, AT., Thorpe, J., Cho, S., Tierney, E., Schmidt, J., Hagopian, L., Harris, J., Pevsner, J., 2020, Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury, Cold Spring Harb Mol Case Stud., 6(6):a005884. doi: 10.1101/mcs.a005884. PMCID: PMC7784495  PubMed

Thorpe J, Osei-Owusu IA, Avigdor BE, Tupler R, Pevsner J., 2020, Mosaicism in Human Health and Disease, Annu Rev Genet., 54:487-510. doi: 10.1146/annurev-genet-041720-093403. Epub 2020 Sep 11. PMID: 32916079.  PubMed