Concepedia

Emílie Vyhnálková

EV

Statistics

Publications

6

Citations

199

H-Index

6

Active since

2007

Affiliations

Charles University(Current)

University of Antwerp

Inserm

Sorbonne Université

Duke Medical Center

Emílie Vyhnálková is an author at Charles University specializing in genetics, neurogenetic disorders, and human genetics.

Publications per year

2007–2025

6

Publications

6

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot, Aoife McMahon, Claire Bar et al. · Genetics in Medicine · 2018 · 62 citations · Full text

, , +17

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

Steven Laurie, Kiran Polavarapu, Nika Schuermans et al. · Nature Medicine · 2025 · 47 citations · Full text

, , +17

UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood

Petra Laššuthová, Katalin Štěrbová, Jana Haberlová et al. · Neuropediatrics · 2018 · 28 citations

, , +17

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

Sébastien Küry, Frédéric Ebstein, Alice Mollé et al. · The American Journal of Human Genetics · 2022 · 23 citations · Full text

, , +16

GDAP1 mutations in Czech families with early-onset CMT

L. Baránková, Emílie Vyhnálková, Stephan Züchner et al. · Neuromuscular Disorders · 2007 · 20 citations

, , +6

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