Séverine Bacrot
Centre Hospitalier de Versailles(FR)
Publications by Year
Research Areas
Alkaline Phosphatase Research Studies, Heterotopic Ossification and Related Conditions, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Genomics and Rare Diseases
Most-Cited Works
- → FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta(2018)77 cited
- → Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults(2023)68 cited
- → Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome(2020)62 cited
- → Mutations inSNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome(2014)50 cited
- → The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance(2023)33 cited
- → Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group(2023)29 cited
- → PFMG2025–integrating genomic medicine into the national healthcare system in France(2025)29 cited
- → Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia(2022)26 cited
- → Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome(2014)23 cited
- → Whole exome sequencing diagnoses the first fetal case of Bainbridge‐Ropers syndrome presenting as pontocerebellar hypoplasia type 1(2018)14 cited