A landscape of germ line mutations in a cohort of inherited bone marrow failure patients

Olivier Bluteau, Marie Sébert, Thierry Leblanc, +33

Blood

Germline DDX41 mutations define a significant entity within adult MDS/AML patients

Marie Sébert, Marie Passet, Anna Raimbault, +16

Blood

Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions

Samuel Quentin, Wendy Cuccuini, Raphaël Ceccaldi, +20

Blood

Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi, +22

The American Journal of Human Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsPathology +4

Incidence and prognostic value of TET2 alterations in de novo acute myeloid leukemia achieving complete remission

Olivier Nibourel, Olivier Kosmider, Meyling Cheok, +17

Blood

Clonal hematopoiesis driven by chromosome 1q/MDM4 trisomy defines a canonical route toward leukemia in Fanconi anemia

Marie Sébert, Stéphanie Gachet, Thierry Leblanc, +62

Cell stem cell

Hematological MalignancyChromatinFanconi AnemiaGeneticsHematology +5

First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis

Éric Pasmant, P. Goussard, Laetitia Baranes, +10

European Journal of Human Genetics

First DescriptionGeneticsPathologyOral Contraceptives-induced CholestasisMedicine +1

Copy-number analysis identified new prognostic marker in acute myeloid leukemia

Olivier Nibourel, Soizic Guihard, Christophe Roumier, +18

Leukemia

Hematological MalignancyPrognostic BiomarkersOncologyMedicineAcute Myeloid Leukemia +7

Concurrent <i>CDX2 cis</i>-deregulation and <i>UBTF::ATXN7L3</i> fusion define a novel high-risk subtype of B-cell ALL

Marie Passet, Rathana Kim, Stéphanie Gachet, +25

Blood

Mixed-phenotype Acute LeukemiaGeneticsImmunologyCrispr Interference ExperimentsEpigenetics +17

Exploration of nuclear body-enhanced sumoylation reveals that PML represses 2-cell features of embryonic stem cells

Sarah Tessier, Omar Ferhi, Marie‐Claude Geoffroy, +13

Nature Communications