Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: rs778975987

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: PPARG: T39A

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 6

View BVdb publication page

Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: PPARG: T39A

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 6

View BVdb publication page

Peroxisome proliferator-activated receptor α as a novel therapeutic target for schizophrenia.

Ebiomedicine

Wada, Yuina Y; Maekawa, Motoko M; Ohnishi, Tetsuo T; Balan, Shabeesh S; Matsuoka, Shigeru S; Iwamoto, Kazuya K; Iwayama, Yoshimi Y; Ohba, Hisako H; Watanabe, Akiko A; Hisano, Yasuko Y; Nozaki, Yayoi Y; Toyota, Tomoko T; Shimogori, Tomomi T; Itokawa, Masanari M; Kobayashi, Tetsuyuki T; Yoshikawa, Takeo T

Publication Date: 2020-12

Variant appearance in text: rs778975987

PubMed Link: 33279456

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page