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: F2: 443C>T; P148L

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation.

Elife

Thompson, Alex F AF; Blackburn, Patrick R PR; Arons, Noah S NS; Stevens, Sarah N SN; Babovic-Vuksanovic, Dusica D; Lian, Jane B JB; Klee, Eric W EW; Stumpff, Jason J

Publication Date: 2022-06-22

Variant appearance in text: F2: P148L

PubMed Link: 35730929

Variant Present in the following documents:

• elife-78653.pdf

View BVdb publication page

Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Frontiers In Oncology

Nishimura, Toshihide T; Végvári, Ákos Á; Nakamura, Haruhiko H; Kato, Harubumi H; Saji, Hisashi H

Publication Date: 2020

Variant appearance in text: F2: P148L

PubMed Link: 32983988

Variant Present in the following documents:

• Data_Sheet_2.xlsx, sheet 31

View BVdb publication page