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: CREBBP: 527G>A

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Novel therapeutic targets in salivary duct carcinoma uncovered by comprehensive molecular profiling.

Cancer Medicine

Gargano, Stacey M SM; Senarathne, Wijendra W; Feldman, Rebecca R; Florento, Elena E; Stafford, Phillip P; Swensen, Jeffrey J; Vranic, Semir S; Gatalica, Zoran Z

Publication Date: 2019-12

Variant appearance in text: CREBBP: C176Y

PubMed Link: 31609094

Variant Present in the following documents:

• Main text
• CAM4-8-7322.pdf

View BVdb publication page