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Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.
McQuaid ME, Ahmed K, Tran S, Rousseau J, Shaheen R, Kernohan KD, Yuki KE, Grover P, Dreseris ES, Ahmed S, Dupuis L, Stimec J, Shago M, Al-Hassnan ZN, Tremblay R, Maass PG, Wilson MD, Grunebaum E, Boycott KM, Boisvert FM, Maddirevula S, Faqeih EA, Almanjomi F, Khan ZU, Alkuraya FS, Campeau PM, Kannu P, Campos EI, Wurtele H. McQuaid ME, et al. Among authors: dreseris es. JCI Insight. 2022 May 23;7(10):e155648. doi: 10.1172/jci.insight.155648. JCI Insight. 2022. PMID: 35603789 Free PMC article.
ATRX proximal protein associations boast roles beyond histone deposition.
Scott WA, Dhanji EZ, Dyakov BJA, Dreseris ES, Asa JS, Grange LJ, Mirceta M, Pearson CE, Stewart GS, Gingras AC, Campos EI. Scott WA, et al. Among authors: dreseris es. PLoS Genet. 2021 Nov 15;17(11):e1009909. doi: 10.1371/journal.pgen.1009909. eCollection 2021 Nov. PLoS Genet. 2021. PMID: 34780483 Free PMC article.
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.
Silveira KC, Fonseca IC, Oborn C, Wengryn P, Ghafoor S, Beke A, Dreseris ES, Wong C, Iacovone A, Soltys CL, Babul-Hirji R, Artigalas O, Antolini-Tavares A, Gingras AC, Campos E, Cavalcanti DP, Kannu P. Silveira KC, et al. Among authors: dreseris es. Hum Genet. 2023 Nov;142(11):1571-1586. doi: 10.1007/s00439-023-02598-2. Epub 2023 Sep 27. Hum Genet. 2023. PMID: 37755482 Free PMC article.