Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.
Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03
Variant appearance in text: KMT2C: 1402C>A; Pro468Thr; rs140919432
Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder.
Molecular Psychiatry
Griesi-Oliveira, K K; Fogo, M S MS; Pinto, B G G BGG; Alves, A Y AY; Suzuki, A M AM; Morales, A G AG; Ezquina, S S; Sosa, O J OJ; Sutton, G J GJ; Sunaga-Franze, D Y DY; Bueno, A P AP; Seabra, G G; Sardinha, L L; Costa, S S SS; Rosenberg, C C; Zachi, E C EC; Sertie, A L AL; Martins-de-Souza, D D; Reis, E M EM; Voineagu, I I; Passos-Bueno, M R MR
Publication Date: 2021-05
Variant appearance in text: KMT2C: P468T; rs140919432
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Oncotarget
Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM
Publication Date: 2018-01-30
Variant appearance in text: KMT2C: 1402C>A; Pro468Thr; rs140919432
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: KMT2C: P468T; rs140919432
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014
Variant appearance in text: MLL3: P468T; rs140919432