Select Publications

Preprints

Iwata-Otsubo A; Dias K-R; Su C; Temple SEL; Zhu Y; Fiordaliso SK; Ritter AL; Baker SW; Kuroda Y; Keena BA; Grant SFA; Subramanian GM; Zackai EH; Edwards M; Evans C-A; Dulik MC; Buckley MF; Roscioli T; Izumi K, 2020, CBX1 variants cause a neurodevelopmental syndrome due to facultative heterochromatin dysfunction, http://dx.doi.org/10.1101/2020.09.29.319228

Minoche AE; Lundie B; Peters GB; Ohnesorg T; Pinese M; Thomas DM; Zankl A; Roscioli T; Schonrock N; Kummerfeld S; Burnett L; Dinger ME; Cowley MJ, 2020, ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data, http://dx.doi.org/10.1101/2020.06.30.20143453

Chiapparino A; De Giorgi F; Scietti L; Faravelli S; Roscioli T; Forneris F, 2019, A cooperative network of molecular “hot spots” highlights the complexity of LH3 collagen glycosyltransferase activities, http://dx.doi.org/10.1101/841486


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