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: ERBB2: 1087G>A

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: ERBB2: E363K

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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Clinicopathologic and molecular analysis of embryonal rhabdomyosarcoma of the genitourinary tract: evidence for a distinct DICER1-associated subgroup.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Kommoss, Felix K F FKF; Stichel, Damian D; Mora, Jaume J; Esteller, Manel M; Jones, David T W DTW; Pfister, Stefan M SM; Brack, Eva E; Wachtel, Marco M; Bode, Peter Karl PK; Sinn, Hans-Peter HP; Schmidt, Dietmar D; Mentzel, Thomas T; Kommoss, Friedrich F; Sahm, Felix F; von Deimling, Andreas A; Koelsche, Christian C

Publication Date: 2021-08

Variant appearance in text: ERBB2: E363K

PubMed Link: 33846547

Variant Present in the following documents:

• 41379_2021_804_MOESM1_ESM.pdf

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: ERBB2: Glu363Lys

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page