Publications:

In-depth phenotyping for clinical stratification of Gaucher disease.

Orphanet Journal Of Rare Diseases

D'Amore, Simona S; Page, Kathleen K; Donald, Aimée A; Taiyari, Khadijeh K; Tom, Brian B; Deegan, Patrick P; Tan, Chong Y CY; Poole, Kenneth K; Jones, Simon A SA; Mehta, Atul A; Hughes, Derralynn D; Sharma, Reena R; Lachmann, Robin H RH; Chakrapani, Anupam A; Geberhiwot, Tarekegn T; Santra, Saikat S; Banka, Siddarth S; Cox, Timothy M TM; ,

Publication Date: 2021-10-14

Variant appearance in text: 225: S488F

PubMed Link: 34649574

Variant Present in the following documents:

• 13023_2021_2034_MOESM1_ESM.pdf

View BVdb publication page

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: 225: S488F

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1

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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: 225: S488F

PubMed Link: 24913145

Variant Present in the following documents:

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

View BVdb publication page