Concepedia

Sarah Grotto

SG

15

Publications

505

Citations

13

H-Index

2014

Active since

Affiliations

Assistance Publique – Hôpitaux de Paris(Current)

Inserm

Hôpital Robert-Debré

Hospices Civils de Lyon

Sorbonne Université

Sarah Grotto is an author at Assistance Publique – Hôpitaux de Paris specializing in medicine, genetics, and neurodevelopmental disorders.

Top concepts

Publications per year

2014–2023

15

Publications

15

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients

Sarah Grotto, Jean‐Marie Cuisset, Stéphane Marret et al. · Journal of Neuromuscular Diseases · 2016 · 90 citations

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Annie Laquerrière, Dana Jaber, Emanuela Abiusi et al. · Journal of Medical Genetics · 2021 · 62 citations · Full text

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

Henri Margot, Guilaine Boursier, Claire Duflos et al. · Genetics in Medicine · 2019 · 57 citations · Full text

, , +12

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

Paolo Zanoni, Katharina Steindl, Deepanwita Sengupta et al. · Genetics in Medicine · 2021 · 43 citations · Full text

<i>NR4A2</i> haploinsufficiency is associated with intellectual disability and autism spectrum disorder

Jonathan Lévy, Sarah Grotto, Cyril Mignot et al. · Clinical Genetics · 2018 · 41 citations

, , +20

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