Publications:

Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: CHRNB2: A135V

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: CHRNB2: A135V

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: CHRNB2: 404C>T; Ala135Val

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

View BVdb publication page