Concepedia

Emily Fassi

EF

Statistics

Publications

11

Citations

893

H-Index

11

Active since

2017

Affiliations

Washington University in St. Louis(Current)

Inserm

Centre National de la Recherche Scientifique

Assistance Publique – Hôpitaux de Paris

Radboud University Nijmegen

Emily Fassi is an author at Washington University in St. Louis specializing in genetics, life sciences, and neurodevelopmental disorders.

ORCID

Publications per year

2017–2021

11

Publications

11

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

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

Dustin Baldridge, Jennifer Heeley, Marisa Vineyard et al. · Genetics in Medicine · 2017 · 123 citations · Full text

, , +15

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Jean Chemin, Karine Siquier-Pernet, Michaël Nicouleau et al. · Brain · 2018 · 106 citations · Full text

, , +17

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny Lai et al. · Genetics in Medicine · 2021 · 91 citations · Full text

, , +16

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Scott C. Bell, Justine Rousseau, Huashan Peng et al. · The American Journal of Human Genetics · 2019 · 90 citations · Full text

, , +14

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