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Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth.
Wenger TL, Ganti S, Bull C, Lutsky E, Bennett JT, Zenner K, Jensen DM, Dmyterko V, Mercan E, Shivaram GM, Friedman SD, Bindschadler M, Drusin M, Perkins JN, Kong A, Bly RA, Dahl JP, Bonilla-Velez J, Perkins JA. Wenger TL, et al. Among authors: jensen dm. Genet Med. 2022 Nov;24(11):2318-2328. doi: 10.1016/j.gim.2022.07.026. Epub 2022 Sep 6. Genet Med. 2022. PMID: 36066547 Free PMC article.
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJM, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RCM, Chung B, Lehman A, Su J, Ng S, Amor DJ; University of Washington Center for Mendelian Genomics; Care4Rare Canada Consortium; Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell LM. Bennett JT, et al. Am J Hum Genet. 2016 Mar 3;98(3):579-587. doi: 10.1016/j.ajhg.2016.02.006. Am J Hum Genet. 2016. PMID: 26942290 Free PMC article.
Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients.
Piacitelli AM, Jensen DM, Brandling-Bennett H, Gray MM, Batra M, Gust J, Thaker A, Paschal C, Tsuchiya K, Pritchard CC, Perkins J, Mirzaa GM, Bennett JT. Piacitelli AM, et al. Among authors: jensen dm. Am J Med Genet A. 2018 Nov;176(11):2301-2308. doi: 10.1002/ajmg.a.40487. Epub 2018 Jul 31. Am J Med Genet A. 2018. PMID: 30063105 Free PMC article.
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.
Oosterhof N, Chang IJ, Karimiani EG, Kuil LE, Jensen DM, Daza R, Young E, Astle L, van der Linde HC, Shivaram GM, Demmers J, Latimer CS, Keene CD, Loter E, Maroofian R, van Ham TJ, Hevner RF, Bennett JT. Oosterhof N, et al. Among authors: jensen dm. Am J Hum Genet. 2019 May 2;104(5):936-947. doi: 10.1016/j.ajhg.2019.03.010. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982608 Free PMC article.
Acetylsalicylic acid suppression of the PI3K pathway as a novel medical therapy for head and neck lymphatic malformations.
Bonilla-Velez J, Whitlock KB, Ganti S, Zenner K, Cheng CV, Jensen DM, Pham MM, Mitchell RM, Dobyns W, Bly RA, Bennett JT, Dahl JP, Perkins JA. Bonilla-Velez J, et al. Among authors: jensen dm. Int J Pediatr Otorhinolaryngol. 2021 Dec;151:110869. doi: 10.1016/j.ijporl.2021.110869. Epub 2021 Aug 5. Int J Pediatr Otorhinolaryngol. 2021. PMID: 34537546 Free PMC article.
Somatic activating BRAF variants cause isolated lymphatic malformations.
Zenner K, Jensen DM, Dmyterko V, Shivaram GM, Myers CT, Paschal CR, Rudzinski ER, Pham MM, Cheng VC, Manning SC, Bly RA, Ganti S, Perkins JA, Bennett JT. Zenner K, et al. Among authors: jensen dm. HGG Adv. 2022 Mar 15;3(2):100101. doi: 10.1016/j.xhgg.2022.100101. eCollection 2022 Apr 14. HGG Adv. 2022. PMID: 35373151 Free PMC article.
441 results