Jean-François Spinella

TL;DR: In this paper, the authors identify an ETC complex I inhibitor and reveal the genetic landscape of OXPHOS dependency in acute myeloid leukemia (AML) using 200 sequenced primary specimens.

TL;DR: The whole-exome sequences of French-Canadian individuals are analyzed to highlight the impact of population demography on genetic fitness and the contribution of rare variants to the human genetic variation landscape, emphasizing the need for deep cataloguing of genetic variants by resequencing worldwide human populations in order to truly assess disease risk.

TL;DR: Molecular profiling revealed higher frequencies of NRAS mutations and other mutations known to activate various signaling pathways in these RUNX1 germline mutated AML patients, which suggests a higher than anticipated frequency of germline RUNx1 mutations in the Leucegene cohort and highlights the importance of testing for RUNX 1 mutations in instances where allogeneic stem cell transplantation with related donor is envisioned.

TL;DR: A potential role for PRDM9 variation in risk of acquiring aneuploidies or genomic rearrangements associated with childhood leukemogenesis is supported and exomes sequenced in 44 additional parents of children affected with B-ALL are discovered.

TL;DR: In this paper, a hierarchical clustering of CpG-site neighborhood, gene, or microRNA gene-associated methylation levels separated the tumor cohort according to major pre-B ALL subtypes, and methylation in CGIs, CGI shores, and in regions around the transcription start site was found to significantly correlate with transcript expression.