Publications:

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: APP: 466G>A

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

Natural and cryptic peptides dominate the immunopeptidome of atypical teratoid rhabdoid tumors.

Journal For Immunotherapy Of Cancer

Marcu, Ana A; Schlosser, Andreas A; Keupp, Anne A; Trautwein, Nico N; Johann, Pascal P; Wölfl, Matthias M; Lager, Johanna J; Monoranu, Camelia Maria CM; Walz, Juliane S JS; Henkel, Lisa M LM; Krauß, Jürgen J; Ebinger, Martin M; Schuhmann, Martin M; Thomale, Ulrich Wilhelm UW; Pietsch, Torsten T; Klinker, Erdwine E; Schlegel, Paul G PG; Oyen, Florian F; Reisner, Yair Y; Rammensee, Hans-Georg HG; Eyrich, Matthias M

Publication Date: 2021-10

Variant appearance in text: APP: E156K

PubMed Link: 34599019

Variant Present in the following documents:

• jitc-2021-003404supp008.pdf

View BVdb publication page