By Professor Tony Roscioli

Preprints

Jamshidi J; Rowntree C; Fadaee S; Zhang F; Zhu Y; Buckley M; Hart F; Roscioli T, 2025, Long-range PCR and Nanopore sequencing for localisation and phasing variants: an end-to-end clinical application workflow, http://dx.doi.org/10.21203/rs.3.rs-7242084/v1

Gayevskiy V; Roscioli T; Dinger M; Cowley M, 2019, Seave: a comprehensive web platform for storing and interrogating human genomic variation, http://dx.doi.org/10.1101/258061

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

McGuigan A; Pagnamenta AT; Covill LE; Samson J; Camps C; Chen Y; Moitra T; Chundru K; O’Heir E; Allan K; Arno G; Broomfield A; Delatycki M; Lin S; Michaelides M; Rius R; Roscioli T; Simons C; Webster A; White SM; Wilson L; Sanders SJ; O’Donnell-Luria A; Ellingford JM; Taylor JC; Whiffin N, A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery, http://dx.doi.org/10.64898/2026.05.13.26352722

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, ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data, http://dx.doi.org/10.1101/2020.06.30.20143453

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; Le Fevre A; Leventer RJ; Liebelt JE; Lockhart PJ; S A; 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; St 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, 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; Fuerte EPA; 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; Network UD; Neale G; Carvill GL; Research UOWCFRD; Wang Z; Berkovic SF; Sadleir LG; Miller DE; Scheffer IE; Sadikovic B; Mefford HC, 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

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; Subramanian GM; 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, Dominant-negative mutations in CBX1 cause a neurodevelopmental disorder, http://dx.doi.org/10.1101/2020.09.29.319228

Houdayer C; Phillips AM; Chabbert M; Bourreau J; Maroofian R; Houlden H; Richards K; Saadi NW; Dad’ová E; Van Bogaert P; Rupin M; Keren B; Charles P; Smol T; Riquet A; Pais L; O’Donnell-Luria A; VanNoy GE; Bayat A; Møller RS; Olofsson K; Jamra RA; Syrbe S; Dasouki M; Seaver LH; Sullivan JA; Shashi V; Alkuraya FS; Poss AF; Spence JE; Schnur RE; Forster IC; Mckenzie CE; Simons C; Wang M; Snell P; Kothur K; Buckley M; Roscioli T; Elserafy N; Dauriat B; Procaccio V; Henrion D; Lenaers G; Colin E; Verbeek NE; Van Gassen KL; Legendre C; Bonneau D; Reid CA; Howell KB; Ziegler A; Legros C, Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders, http://dx.doi.org/10.1101/2024.03.19.24303984

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; von Stülpnagel C; Smedley D; collaborators T; Consortium TGER; 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, Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration, http://dx.doi.org/10.1101/2022.11.22.22282283

Sanchis-Juan A; Mostovoy Y; Stenton SL; Ganesh VS; Weisburd B; Yenkin A; Kurtas NE; Zhao X; Shin E; Boone PM; Su H; Lee AS; Yadav R; Allan K; Argilli E; Austin-Tse C; Barry BJ; Baxter S; Beggs AH; Bell KM; Blankenmeister B; Bönnemann CG; Brownstein CA; Bujakowska KM; Carbonell E; Cooper ST; Covill LE; DiTroia S; Donkervoort S; Engle EC; Gallacher L; Genetti CA; Gleeson JG; Guan B; Hall S; Hildebrandt F; Hufnagel RB; Jurgens JA; Khorgade A; Lemire G; Liau E; Ma J; Madden JA; Mangilog B; McNulty BM; Messaoud O; Negi S; O’Heir E; O’Leary MC; Osei-Owusu I; Õunap K; Pais L; Pajusalu S; Pham A; Pierce EA; Pierce-Hoffman E; Ravenscroft G; Roscioli T; Sankaran VG; Serrano J; Sherr EH; Shril S; Singer-Berk M; Snow H; Straub V; Tai D; Tan TY; Töpf A; Ullah E; VanNoy G; Violich I; Walker M; White SM; Wojcik MH; Mitchell E; Al’Khafaji AM; Dodge S; Garimella K; Lennon NJ; Gabriel SB; Miga KH; Paten B; Rehm HL; O’Donnell-Luria A; Brand H; Talkowski ME, Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing, http://dx.doi.org/10.64898/2026.06.22.26356238

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