Sarah Grotto
Sorbonne Université(FR)Hôpital Cochin(FR)Assistance Publique – Hôpitaux de Paris(FR)Maternité Port Royal(FR)Pitié-Salpêtrière Hospital(FR)Groupe Hospitalier Cochin - Port-Royal, Hôtel-Dieu, Broca - La Collégiale(FR)
Publications by Year
Research Areas
RNA regulation and disease, RNA Research and Splicing, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients(2016)90 cited
- → Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita(2021)62 cited
- → Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature(2014)61 cited
- → Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals(2019)58 cited
- → Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype(2021)45 cited
- → NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder(2018)42 cited