Select Publications

Preprints

Jackson A; Blakes AJM; Wall E; Clarke N; Abdelhadi O; Agrawal S; Blair E; Brady AF; Brittain H; Chandler KE; Drinkall N; Elmslie F; Ewans L; Fennell A; Gazdagh G; Kini U; Macintosh R; Mansour S; Menzies L; Metcalfe K; Milhench A; Palmer E; Parida A; Prescott K; Redman M; Renieri A; Rius R; Rizzo CL; Sachdev R; Simons C; Sisodiya S; Stewart H; Thomas H; Tinella F; Walker S; Whiffin N; O’Keefe RT; Lord J; Banka S, 2025, Biallelic variants in RNU2-2 cause a remarkably frequent developmental epileptic encephalopathy, http://dx.doi.org/10.1101/2025.09.02.25334957

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

Smith-Diaz CC; Henden N; Stewart N; Bryen S; Graham M; Lawley C; Butters A; Piers AT; Baker A; Elliott DA; Richardson E; Formaini E; Porrello ER; Doyle H; Konstantinov IE; King I; Subasinghe I; Le Marquand K; Catto L; Yeates L; Ewans L; Sachdev R; Rius R; Ross S; Yu S; She W; Duflou J; Simons C; MacArthur DG; Collins F; Schweizer U; Mallawaarachchi A; McNamara J; Ingles J, SECISBP2 Deficiency Causes a Lethal Perinatal Cardiomyopathy, http://dx.doi.org/10.64898/2026.07.22.26358709


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