Concepedia

Emmanuelle Ranza

ER

34

Publications

1.3K

Citations

22

H-Index

2013

Active since

Affiliations

University Hospital of Geneva(Current)

University of Geneva

Inserm

Khyber Medical University

Centre National de la Recherche Scientifique

Emmanuelle Ranza is an author at University Hospital of Geneva specializing in medicine, genetics, and developmental biology.

ORCID

Top concepts

Publications per year

2013–2023

34

Publications

34

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Konrad Platzer, Hongjie Yuan, Hannah M. Schutz et al. · Journal of Medical Genetics · 2017 · 249 citations · Full text

Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism

Jennie Murray, Mirjam van der Burg, Hanna IJspeert et al. · The American Journal of Human Genetics · 2015 · 83 citations · Full text

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Focal cortical malformations in children with early infantile epilepsy and <i><scp>PCDH</scp>19</i> mutations: case report

Mary Kurian, Christian Korff, Emmanuelle Ranza et al. · Developmental Medicine & Child Neurology · 2017 · 65 citations · Full text

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency

Muhammad Ansar, Emmanuelle Ranza, Madhur Shetty et al. · Human Molecular Genetics · 2019 · 59 citations

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Andreea Manole, Stéphanie Efthymiou, Emer O’Connor et al. · The American Journal of Human Genetics · 2020 · 59 citations · Full text

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