By Dr Elizabeth Emma Palmer

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

Dunn M; Strnadová I; Scully JL; Hansen J; Palmer EE, 2023, Exploring the Barriers and Enablers for the Equitable and Accessible Informed Healthcare Consent Process for People with Intellectual Disability: A Systematic Literature Review, http://dx.doi.org/10.1101/2023.03.06.23286791

Brett G; Ward A; Bouffler S; Palmer E; Boggs K; Lynch F; Springer A; Nisselle A; Stark Z, 2022, Co-design, implementation, and evaluation of plain language genomic test reports, http://dx.doi.org/10.21203/rs.3.rs-1721168/v1

Palmer E; Danker J; Strnadová I; Loblinzk J; Jackaman K-M; Scully JL; Sierra Classen Sierra Classen1 ; Dunn M; Sarfaraz S; Tso M; Boyle J; Fitzgerald V, 2022, “I am not a number!” Opinions and preferences of people with intellectual disability about genomic healthcare., http://dx.doi.org/10.21203/rs.3.rs-2150970/v1

McKnight L; Schultz A; Vidic N; Palmer E; Jaffe A, 2022, Learning to make a difference for chILD: Value creation through network collaboration and team science, http://dx.doi.org/10.22541/au.166740302.29601419/v1

Shi Y; van Rhijn J-R; Bormann M; Mossink B; Frega M; Recaioglu H; Hakobjan M; Gunnewiek TK; Schoenmaker C; Palmer E; Faivre L; Kittel-Schneider S; Schubert D; Brunner H; Franke B; Kasri NN, 2020, Brunner syndrome associated MAOA dysfunction in human dopaminergic neurons results in NMDAR hyperfunction and increased network activity, http://dx.doi.org/10.1101/2020.10.28.359224

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