Claire-Sophie Davoine

Institut du Cerveau et de la Moelle Épinière

France

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Articles (10)

Year:

2025

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2024

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2024

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2024

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2023

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2023

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2023

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2023

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2023

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2023

Collaborators (18)

Ludger Schöls

Section head

Eberhard Karls Universität Tübingen

GERMANY

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Sandrine PASSEMARD

Université Paris Cité

FRANCE

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Sarah Weckhuysen

Associate Professor

University of Antwerp

BELGIUM

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Patrick Chinnery

Newcastle University

UNITED KINGDOM

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Konstantina Drosou

The University of Manchester

UNITED KINGDOM

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equipe cap

INSERM

FRANCE

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Giovanni Stevanin

Directeur d'Etudes Cumulant (Professor)

École Pratique des Hautes Études

FRANCE

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Mathieu Barbier

Institut du Cerveau et de la Moelle Épinière

FRANCE

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Marek Turnovec

University Hospital in Motol

CZECH REPUBLIC

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Manuel Posada

Senior Research Full Professor, Rare Diseases Research Institute, ISCIII

Instituto de Salud Carlos III

SPAIN

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Mridul Johari

University of Helsinki

FINLAND

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Karen Low

University of Bristol

UNITED KINGDOM

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Davide Mei

Dirigente Professioni Sanitarie Tecnico Diagnostiche

ITALY

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Massimiliano Rossi

Université Claude Bernard Lyon 1

FRANCE

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Siddharth Banka

The University of Manchester

UNITED KINGDOM

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Yves Sznajer

Head and Coordinator

Cliniques Universitaires Saint-Luc

BELGIUM

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Gisèle Bonne

INSERM

FRANCE

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Julia Schulze-Hentrich

University professor

Saarland University

GERMANY

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Claire-Sophie Davoine

Research Interests

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Articles (10)

Somatic instability of the <i>FGF14</i>-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

An interconnected data infrastructure to support large-scale rare disease research.

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

<i>IRF2BPL</i> Causes Mild Intellectual Disability Followed by Late-Onset Ataxia

Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes

Collaborators (18)

Ludger Schöls

Sandrine PASSEMARD

Sarah Weckhuysen

Patrick Chinnery

Konstantina Drosou

equipe cap

Giovanni Stevanin

Mathieu Barbier

Marek Turnovec

Manuel Posada

Mridul Johari

Karen Low

Davide Mei

Massimiliano Rossi

Siddharth Banka

Yves Sznajer

Gisèle Bonne

Julia Schulze-Hentrich

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