The genomic landscape of pediatric renal cell carcinomas.
Iscience
Beck, Pengbo P; Selle, Barbara B; Madenach, Lukas L; Jones, David T W DTW; Vokuhl, Christian C; Gopisetty, Apurva A; Nabbi, Arash A; Brecht, Ines B IB; Ebinger, Martin M; Wegert, Jenny J; Graf, Norbert N; Gessler, Manfred M; Pfister, Stefan M SM; Jäger, Natalie N
Publication Date: 2022-04-15
Variant appearance in text: SCN1A: R605T; rs374501252
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Epilepsia Open
Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S
Publication Date: 2019-09
Variant appearance in text: SCN1A: 1814G>C; Arg605Thr