Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.
Nature Communications
Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J
Interaction Landscape of Inherited Polymorphisms with Somatic Events in Cancer.
Cancer Discovery
Carter, Hannah H; Marty, Rachel R; Hofree, Matan M; Gross, Andrew M AM; Jensen, James J; Fisch, Kathleen M KM; Wu, Xingyu X; DeBoever, Christopher C; Van Nostrand, Eric L EL; Song, Yan Y; Wheeler, Emily E; Kreisberg, Jason F JF; Lippman, Scott M SM; Yeo, Gene W GW; Gutkind, J Silvio JS; Ideker, Trey T
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
Human Molecular Genetics
Damiano, John A JA; Afawi, Zaid Z; Bahlo, Melanie M; Mauermann, Monika M; Misk, Adel A; Arsov, Todor T; Oliver, Karen L KL; Dahl, Hans-Henrik M HH; Shearer, A Eliot AE; Smith, Richard J H RJ; Hall, Nathan E NE; Mahmood, Khalid K; Leventer, Richard J RJ; Scheffer, Ingrid E IE; Muona, Mikko M; Lehesjoki, Anna-Elina AE; Korczyn, Amos D AD; Herrmann, Harald H; Berkovic, Samuel F SF; Hildebrand, Michael S MS