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: TTC28: 1208C>T; A403V

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours.

Nature Communications

Johansson, Peter A PA; Brooks, Kelly K; Newell, Felicity F; Palmer, Jane M JM; Wilmott, James S JS; Pritchard, Antonia L AL; Broit, Natasa N; Wood, Scott S; Carlino, Matteo S MS; Leonard, Conrad C; Koufariotis, Lambros T LT; Nathan, Vaishnavi V; Beasley, Aaron B AB; Howlie, Madeleine M; Dawson, Rebecca R; Rizos, Helen H; Schmidt, Chris W CW; Long, Georgina V GV; Hamilton, Hayley H; Kiilgaard, Jens F JF; Isaacs, Timothy T; Gray, Elin S ES; Rolfe, Olivia J OJ; Park, John J JJ; Stark, Andrew A; Mann, Graham J GJ; Scolyer, Richard A RA; Pearson, John V JV; van Baren, Nicolas N; Waddell, Nicola N; Wadt, Karin W KW; McGrath, Lindsay A LA; Warrier, Sunil K SK; Glasson, William W; Hayward, Nicholas K NK

Publication Date: 2020-05-15

Variant appearance in text: TTC28: 1208C>T; Ala403Val

PubMed Link: 32415113

Variant Present in the following documents:

• 41467_2020_16276_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page