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Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations.
Gestrich CK, Vivero MP, Konczyk DJ, Goss JA, Labow BI, Pearson GD, Cottrell CE, Mathew MT, Prasad V, Kozakewich HP, Fletcher CDM, Greene AK, Al-Ibraheemi A. Gestrich CK, et al. Among authors: konczyk dj. Am J Surg Pathol. 2024 Jan 1;48(1):106-111. doi: 10.1097/PAS.0000000000002127. Epub 2023 Sep 26. Am J Surg Pathol. 2024. PMID: 37750536
Arteriovenous malformation Map2k1 mutation affects vasculogenesis.
Sudduth CL, Smits PJ, Vivero MP, Cheng YS, Ad M, Konczyk DJ, Bischoff J, Warman ML, Greene AK. Sudduth CL, et al. Among authors: konczyk dj. Sci Rep. 2023 Jul 8;13(1):11074. doi: 10.1038/s41598-023-35301-6. Sci Rep. 2023. PMID: 37422456 Free PMC article.
Bockenheimer disease is associated with a TEK variant.
Sudduth CL, Konczyk DJ, Smits PJ, Eng W, Al-Ibraheemi A, Upton J, Greene AK. Sudduth CL, et al. Among authors: konczyk dj. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006119. doi: 10.1101/mcs.a006119. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34649969 Free PMC article.
Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant.
Eng W, Sudduth CL, Konczyk DJ, Smits PJ, Taghinia AH, Fishman SJ, Alomari A, Adams DM, Greene AK. Eng W, et al. Among authors: konczyk dj. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006118. doi: 10.1101/mcs.a006118. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34607843 Free PMC article.
EPHB4 mutation causes adult and adolescent-onset primary lymphedema.
Greene AK, Brouillard P, Sudduth CL, Smits PJ, Konczyk DJ, Vikkula M. Greene AK, et al. Among authors: konczyk dj. Am J Med Genet A. 2021 Dec;185(12):3810-3813. doi: 10.1002/ajmg.a.62416. Epub 2021 Jul 7. Am J Med Genet A. 2021. PMID: 34231312
Lipoblastoma phenotype contains a somatic PIK3CA mutation.
Sudduth CL, Konczyk DJ, Al-Ibraheemi A, Smits PJ, Greene AK. Sudduth CL, et al. Among authors: konczyk dj. Pediatr Dermatol. 2021 Jan;38(1):299-300. doi: 10.1111/pde.14406. Epub 2020 Oct 9. Pediatr Dermatol. 2021. PMID: 33034408
22 results