Emmanuelle Ranza - Concepedia

Author

Emmanuelle Ranza

University Hospital of Geneva ORCID

Also Known As

Chloé Quelin, E. Ranza, Emmanuelle Ranza, K. Radtke, Ranza, E.

Publications

1.4K

Citations

H-Index

Concepts

All Affiliations

University Hospital of Geneva University of Geneva Inserm Khyber Medical University Centre National de la Recherche Scientifique

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	16	18	618
2	Social Sciences	3	3	118
3	Cell Biology	3	3	106
4	Education	1	1	21
5	Health Sciences	1	1	35

Emmanuelle Ranza

Publications

1.3K

Citations

H-Index

Page 1

	Year	Citations
<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Konrad Platzer, Hongjie Yuan, Hannah M. Schutz, Journal of Medical Genetics	2017	249
Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism Jennie Murray, Mirjam van der Burg, Hanna IJspeert, The American Journal of Human Genetics Developmental BiologyGenetic DisorderGeneticsMolecular GeneticsMedicine	2015	83
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, Developmental Medicine & Child Neurology	2017	65
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency Muhammad Ansar, Emmanuelle Ranza, Madhur Shetty, Human Molecular Genetics	2019	59
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, The American Journal of Human Genetics	2020	59
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella, Genetics in Medicine Nexmif EncephalopathyMendelian DisorderFragile X SpectrumPathologyFemale Phenotypic Patterns	2020	54
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction Joery den Hoed, Elke de Boer, Norine Voisin, The American Journal of Human Genetics Neurodevelopmental DisordersDifferent Neurodevelopmental DisordersNeurodegenerative DiseasesDevelopmental BiologyMendelian Disorder	2021	54
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature Muhammad Ansar, Frédéric Ebstein, Hayriye Özkoç, Human Molecular Genetics Developmental BiologyShort StatureBiallelic VariantsMedicineGenetics	2020	47
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata, Genetics in Medicine Neurobiology Of DiseaseCorticobasal DegenerationNeurological DisorderIsolated Neurological ManifestationsPathology	2021	47
Growth Arrest Specific Gene 6 Protein Concentration in Cerebrospinal Fluid Correlates with Relapse Severity in Multiple Sclerosis Pier Paolo Sainaghi, Laura Collimedaglia, Federica Alciato, Mediators of Inflammation	2013	46

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