By Professor Tony Roscioli

Preprints

Chen Y; Dawes R; Kim HC; Stenton SL; Walker S; Ljungdahl A; Lord J; Ganesh VS; Ma J; Martin-Geary AC; Lemire G; D'Souza EN; Dong S; Ellingford JM; Adams DR; Allan K; Bakshi M; Baldwin EE; Berger SI; Bernstein JA; Brown NJ; Burrage LC; Chapman K; Compton AG; Cunningham CA; D'Souza P; Délot EC; Dias K-R; Elias ER; Evans C-A; Ewans L; Ezell K; Fraser JL; Gallacher L; Genetti CA; Grant CL; Haack T; Kuechler A; Lalani SR; Leitão E; Fevre AL; Leventer RJ; Liebelt JE; Lockhart PJ; Ma AS; Macnamara EF; Maurer TM; Mendez HR; Montgomery SB; Nassogne M-C; Neumann S; O'Leary M; Palmer EE; Phillips J; Pitsava G; Pysar R; Rehm HL; Reuter CM; Revencu N; Riess A; Rius R; Rodan L; Roscioli T; Rosenfeld JA; Sachdev R; Simons C; Sisodiya SM; Snell P; Clair L; Stark Z; Tan TY; Tan NB; Temple SE; Thorburn DR; Tifft CJ; Uebergang E; VanNoy GE; Vilain E; Viskochil DH; Wedd L; Wheeler MT; White SM; Wojcik M; Wolfe LA; Wolfenson Z; Xiao C; Zocche D; Rubenstein JL; Markenscoff-Papadimitriou E; Fica SM; Baralle D; Depienne C; MacArthur DG; Howson JM; Sanders SJ; O'Donnell-Luria A; Whiffin N, 2024, De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders., http://dx.doi.org/10.1101/2024.04.07.24305438

LaFlamme CW; Rastin C; Sengupta S; Pennington HE; Russ-Hall SJ; Schneider AL; Bonkowski ES; Almanza Fuerte EP; Galey M; Goffena J; Gibson SB; Allan TJ; Nyaga DM; Lieffering N; Hebbar M; Walker EV; Darnell D; Olsen SR; Kolekar P; Djekidel N; Rosikiewicz W; McConkey H; Kerkhof J; Levy MA; Relator R; Lev D; Lerman-Sagie T; Park KL; Alders M; Cappuccio G; Chatron N; Demain L; Genevieve D; Lesca G; Roscioli T; Sanlaville D; Tedder ML; Hubshman MW; Ketkar S; Dai H; Worley KC; Rosenfeld JA; Chao H-T; Undiagnosed Diseases Network ; Neale G; Carvill GL; University of Washington Center for Rare Disease Research ; Wang Z; Berkovic SF; Sadleir LG; Miller DE; Scheffer IE; Sadikovic B; Mefford HC, 2023, Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature., http://dx.doi.org/10.1101/2023.10.11.23296741

Vetro A; Balestrini S; Pelorosso C; Masi A; Hambleton S; Argilli E; Conti V; Giubbolini S; Barrick R; Bergant G; Writzl K; Bijlsma EK; Brunet T; Cacheiro P; Mei D; Devlin A; Hoffer MJV; Machol K; Mannaioni G; Sakamoto M; Menezes MP; Courtin T; Sherr E; Parra R; Richardson R; Roscioli T; Scala M; Stülpnagel CV; Smedley D; Torella A; Tohyama J; Koichihara R; Hamada K; Ogata K; Suzuki T; Sugie A; van der Smagt JJ; van Gassen K; Valence S; Vittery E; Kato M; Matsumoto N; Ratto GM; Guerrini R, 2022, Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration, http://dx.doi.org/10.1101/2022.11.22.22282283

Kuroda Y; Iwata-Otsubo A; Dias K-R; Temple SEL; Nagao K; De Hayr L; Zhu Y; Isobe S-Y; Nishibuchi G; Fiordaliso SK; Fujita Y; Rippert AL; Baker SW; Leung ML; Koboldt DC; Harman A; Keena BA; Kazama I; Musuwadi Subramanian G; Manickam K; Schmalz B; Latsko M; Zackai EH; Edwards M; Evans C-A; Dulik MC; Buckley MF; Yamashita T; O’Brien WT; Harvey RJ; Obuse C; Roscioli T; Izumi K, 2020, Dominant-negative mutations inCBX1cause a neurodevelopmental disorder, 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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