Cécile Rouzier

7PUBLICATIONS
109CO-AUTHORS
Medical infection agents (incl. prions)Cardiovascular medicine and haematology not elsewhere classifiedEpigenetics (incl. genome methylation and epigenomics)Medical molecular engineering of nucleic acids and proteinsMetabolic medicine
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Publications (7)

|Jan 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Piervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock

|May 22, 2024
Comparison of the ABC and ACMG systems for variant classification.

Gunnar Houge, Eirik Bratland, Ingvild Aukrust

|May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.

Eleonora Manzoni, Sara Carli, Pauline Gaignard

|May 04, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot

|Dec 23, 2023
A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations.

Mounir Serag, Morgane Plutino, Perrine Charles

|Jul 11, 2023
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.

Sylvie Gerber, Lola Lessard, Cécile Rouzier

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Frequent Collaborators

2 joint publications

Guido Primiano

1 joint publications

Jean-Michel Rozet

1 joint publications

Samira Ait-El-Mkadem Saadi

1 joint publications

Mireille Cossee