S
Sophie Archambeault
Researcher at University of Washington
Publications - 20
Citations - 1173
Sophie Archambeault is an academic researcher from University of Washington. The author has contributed to research in topics: Juvenile myelomonocytic leukemia & Stickleback. The author has an hindex of 10, co-authored 20 publications receiving 1061 citations. Previous affiliations of Sophie Archambeault include San Francisco State University & University of California, San Francisco.
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Journal ArticleDOI
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia
Charlotte M. Niemeyer,Michelle Kang,Danielle H. Shin,Ingrid Furlan,Miriam Erlacher,Nancy Bunin,Severa Bunda,Jerry Z. Finklestein,Kathleen M. Sakamoto,Thomas A. Gorr,Parinda A. Mehta,Irene Schmid,Gabriele Kropshofer,Selim Corbacioglu,Peter Lang,Christoph Klein,Paul G. Schlegel,Andrea Heinzmann,Michaela Schneider,Jan Starý,Marry M Den van Heuvel-Eibrink,Henrik Hasle,Franco Locatelli,Debbie S Sakai,Sophie Archambeault,Leslie Chen,Ryan C. Russell,Stephanie S Sybingco,Michael Ohh,Benjamin S. Braun,Christian Flotho,Mignon L. Loh +31 more
TL;DR: It is concluded that germline CBL mutations have developmental, tumorigenic and functional consequences that resemble disorders that are caused by hyperactive Ras/Raf/MEK/ERK signaling and include neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome and Legius syndrome.
Journal ArticleDOI
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia
Mignon L. Loh,Debbie S Sakai,Christian Flotho,Michelle Kang,Manfred Fliegauf,Sophie Archambeault,Charles G. Mullighan,Leslie Chen,Eva Bergstraesser,Carlos E. Bueso-Ramos,Peter D. Emanuel,Henrik Hasle,Jean Pierre Issa,Marry M. van den Heuvel-Eibrink,Franco Locatelli,Jan Starý,Monica Trebo,Marcin W. Wlodarski,Marco Zecca,Kevin Shannon,Charlotte M. Niemeyer +20 more
TL;DR: The exclusivity of CBL mutations with respect to other Ras pathway-associated mutations indicates that CBL may have a role in deregulating this key pathway in JMML.
Journal ArticleDOI
Single Cell Profiling Identifies Aberrant STAT5 Activation in Myeloid Malignancies with Specific Clinical and Biologic Correlates
Nikesh Kotecha,Nikki J. Flores,Jonathan M. Irish,Erin F. Simonds,Debbie S Sakai,Sophie Archambeault,Ernesto Diaz-Flores,Marc Coram,Kevin Shannon,Garry P. Nolan,Mignon L. Loh +10 more
TL;DR: Using flow cytometry, a specific evoked STAT5 signaling signature was observed in a subset of samples from patients suspected of having juvenile myelomonocytic leukemia, suggesting a critical role of this pathway in the biological mechanism of this disorder and indicating potential targets for future therapies.
Journal ArticleDOI
The genomic landscape of juvenile myelomonocytic leukemia.
Elliot Stieglitz,Amaro Taylor-Weiner,Tiffany Y. Chang,Laura C. Gelston,Yong Dong Wang,Tali Mazor,Emilio Esquivel,Ariel Yu,Sara Seepo,Scott R. Olsen,Mara Rosenberg,Sophie Archambeault,Ghada Abusin,Kyle Beckman,Patrick A. Brown,Michael Briones,Benjamin Carcamo,Todd Cooper,Gary V. Dahl,Peter D. Emanuel,Mark Fluchel,Rakesh K. Goyal,Robert J. Hayashi,Johann Hitzler,Christopher Hugge,Y. Lucy Liu,Yoav Messinger,Donald H. Mahoney,Philip M. Monteleone,Eneida R. Nemecek,Philip A. Roehrs,Reuven J. Schore,Kimo C. Stine,Clifford M. Takemoto,Jeffrey A. Toretsky,Joseph F. Costello,Adam B. Olshen,Chip Stewart,Yongjin Li,Jing Ma,Robert B. Gerbing,Todd A. Alonzo,Gad Getz,Gad Getz,Tanja A. Gruber,Todd R. Golub,Todd R. Golub,Kimberly Stegmaier,Kimberly Stegmaier,Mignon L. Loh +49 more
TL;DR: Genomically characterize serial samples from patients at diagnosis through relapse and transformation to acute myeloid leukemia to expand knowledge of the mutational spectrum in JMML and identified recurrent mutations in genes involved in signal transduction, splicing, Polycomb repressive complex 2 (PRC2) and transcription.
Journal ArticleDOI
Divergent Fine-Scale Recombination Landscapes between a Freshwater and Marine Population of Threespine Stickleback Fish.
TL;DR: Threespine stickleback fish are an excellent model to examine the evolution of recombination over short evolutionary timescales and recombination rates indeed varied at a fine-scale across the genome, with many regions organized into narrow hotspots.