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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: loter e. 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.
Ultra-Sensitive TP53 Sequencing for Cancer Detection Reveals Progressive Clonal Selection in Normal Tissue over a Century of Human Lifespan.
Salk JJ, Loubet-Senear K, Maritschnegg E, Valentine CC, Williams LN, Higgins JE, Horvat R, Vanderstichele A, Nachmanson D, Baker KT, Emond MJ, Loter E, Tretiakova M, Soussi T, Loeb LA, Zeillinger R, Speiser P, Risques RA. Salk JJ, et al. Among authors: loter e. Cell Rep. 2019 Jul 2;28(1):132-144.e3. doi: 10.1016/j.celrep.2019.05.109. Cell Rep. 2019. PMID: 31269435 Free PMC article.