Anne-Francoise Roux

Université de Montpellier

France

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Articles (10)

Year:

2025

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2022

Year:

2022

Year:

2022

Collaborators (14)

Guy Van Camp

Professor

University of Antwerp

BELGIUM

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MIGUEL ANGEL MORENO-PELAYO

HEAD OF DEPARTMENT

HOSPITAL UNIVERSITARIO RAMÓN Y CAJAL

SPAIN

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Anne Bergougnoux

Assistant Professor

University of Montpellier

FRANCE

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Dominika Oziębło

Institute of Physiology and Pathology of Hearing

POLAND

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Silvia Dossena

AUSTRIA

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Helena Caria

Prof. Coordenador com Agregação/Full Professor

PORTUGAL

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Giorgia Girotto

University of Trieste

ITALY

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Jillian Pearring

Assistant Professor

University of Michigan

UNITED STATES

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An Boudewyns

BELGIUM

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Heidi Rossmann

GERMANY

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Alessandro Martini

full Professor of ORL and honorary Professor

University of Padova

ITALY

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Sebastian Roesch

Landeskrankenhaus Salzburg - Universitätsklinikum der Paracelsus Medizinischen Privatuniversität

AUSTRIA

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Saba Battelino

SLOVENIA

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Katarina Trebušak Podkrajšek

SLOVENIA

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Anne-Francoise Roux

Research Interests

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Articles (10)

Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous <i>KITLG</i> variants

Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.

Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect (vol 143, pg 2380, 2020)

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

Identification of the First Single <i>GSDME</i> Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss

Identification of the First Single <i>GSDME</i> Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss

Deafness-family matters COMMENT

Collaborators (14)

Guy Van Camp

MIGUEL ANGEL MORENO-PELAYO

Anne Bergougnoux

Dominika Oziębło

Silvia Dossena

Helena Caria

Giorgia Girotto

Jillian Pearring

An Boudewyns

Heidi Rossmann

Alessandro Martini

Sebastian Roesch

Saba Battelino

Katarina Trebušak Podkrajšek

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