Concepedia

Erin Torti

ET

Statistics

Publications

33

Citations

1.8K

H-Index

24

Active since

2013

Affiliations

Inserm(Current)

Centre National de la Recherche Scientifique

Sorbonne Université

Assistance Publique – Hôpitaux de Paris

Boston Children's Hospital

Erin Torti is an author at Inserm specializing in genetics, life sciences, and molecular genetics.

ORCID

Publications per year

2013–2022

33

Publications

33

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

, , +17

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 190 citations · Full text

, , +17

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema et al. · Genome Medicine · 2021 · 117 citations · Full text

, , +17

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

María J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti et al. · The American Journal of Human Genetics · 2020 · 110 citations · Full text

, , +17

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Margot A. Cousin, Blake A. Creighton, Keith A. Breau et al. · Nature Genetics · 2021 · 108 citations · Full text

, , +13

1–5 of 33