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Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing.
Trifiletti R, Lachman HM, Manusama O, Zheng D, Spalice A, Chiurazzi P, Schornagel A, Serban AM, van Wijck R, Cunningham JL, Swagemakers S, van der Spek PJ. Trifiletti R, et al. Among authors: manusama o. Sci Rep. 2022 Jun 30;12(1):11106. doi: 10.1038/s41598-022-15279-3. Sci Rep. 2022. PMID: 35773312 Free PMC article.
Activated PI3Kδ syndrome, an immunodeficiency disorder, leads to sensorimotor deficits recapitulated in a murine model.
Serra I, Manusama OR, Kaiser FMP, Floriano II, Wahl L, van der Zalm C, IJspeert H, van Hagen PM, van Beveren NJM, Arend SM, Okkenhaug K, Pel JJM, Dalm VASH, Badura A. Serra I, et al. Among authors: manusama or. Brain Behav Immun Health. 2021 Oct 19;18:100377. doi: 10.1016/j.bbih.2021.100377. eCollection 2021 Dec. Brain Behav Immun Health. 2021. PMID: 34786564 Free PMC article.