Sara Bizzotto
Broad Institute(US)Boston Children's Hospital(US)Centre National de la Recherche Scientifique(FR)Harvard University(US)Inserm(FR)Université Paris Cité(FR)Sorbonne Université(FR)Assistance Publique – Hôpitaux de Paris(FR)Institut de Myologie(FR)Institut thématique Génétique, génomique et bioinformatique(FR)Institut du Cerveau(FR)Institut des Maladies Génétiques Imagine(FR)Massachusetts Institute of Technology(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Genomics and Rare Diseases, Epigenetics and DNA Methylation, Single-cell and spatial transcriptomics
Most-Cited Works
- → Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias(2017)330 cited
- → Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human(2014)162 cited
- → The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing(2021)132 cited
- → Landmarks of human embryonic development inscribed in somatic mutations(2021)119 cited
- → Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements(2022)100 cited
- → Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial(2021)98 cited