Publications:

Molecular underpinnings of exceptional response in primary malignant melanoma of the esophagus to anti-PD-1 monotherapy.

Journal For Immunotherapy Of Cancer

Dai, Jie J; Bai, Xue X; Gao, Xuan X; Tang, Lirui L; Chen, Yu Y; Sun, Linzi L; Wei, Xiaoting X; Li, Caili C; Qi, Zhonghui Z; Kong, Yan Y; Cui, Chuanliang C; Chi, Zhihong Z; Sheng, Xinan X; Xu, Zelong Z; Lian, Bin B; Li, Siming S; Yan, Xieqiao X; Tang, Bixia B; Zhou, Li L; Wang, Xuan X; Xia, Xuefeng X; Guo, Jun J; Mao, Lili L; Si, Lu L

Publication Date: 2023-01

Variant appearance in text: UGT2B10: 461C>T; Pro154Leu

PubMed Link: 36593066

Variant Present in the following documents:

• jitc-2022-005937supp007.xls, sheet 1

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Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.

Elife

Timberlake, Andrew T AT; Choi, Jungmin J; Zaidi, Samir S; Lu, Qiongshi Q; Nelson-Williams, Carol C; Brooks, Eric D ED; Bilguvar, Kaya K; Tikhonova, Irina I; Mane, Shrikant S; Yang, Jenny F JF; Sawh-Martinez, Rajendra R; Persing, Sarah S; Zellner, Elizabeth G EG; Loring, Erin E; Chuang, Carolyn C; Galm, Amy A; Hashim, Peter W PW; Steinbacher, Derek M DM; DiLuna, Michael L ML; Duncan, Charles C CC; Pelphrey, Kevin A KA; Zhao, Hongyu H; Persing, John A JA; Lifton, Richard P RP

Publication Date: 2016-09-08

Variant appearance in text: UGT2B10: P154L

PubMed Link: 27606499

Variant Present in the following documents:

• elife-20125-table1-data1.xlsx, sheet 1

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: UGT2B10: 461C>T

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: UGT2B10: 461C>T

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page