Select Publications


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,

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,

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,

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