Jean‐Michel Rozet

France

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Articles (11)

Year:

2024

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2024

Year:

2024

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2023

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2021

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2021

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2021

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2021

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2020

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2020

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2020

Collaborators (7)

Jorge Diaz

Associate professor «MCU- Hors Classe»

Université Paris Descartes

FRANCE

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Roly Megaw

Clinical Lecturer

University of Edinburgh

UNITED KINGDOM

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Jacob Anderson

Harvard University

UNITED STATES

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Stefan Unger

Senior Clinical Lecturer

University of Edinburgh

UNITED KINGDOM

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Marie-Justine GUERQUIN

Université Paris-Saclay

FRANCE

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Elisabeth Graf

Klinikum rechts der Isar der Technischen Universität München

GERMANY

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Amelia Shoemark

Asthma Lung UK GSK Chair of Respiratory Research

University of Dundee

UNITED KINGDOM

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Jean‐Michel Rozet

Research Interests

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Articles (11)

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences

Structural Variant Disrupting the Expression of the Remote <i>FOXC1</i> Gene in a Patient with Syndromic Complex Microphthalmia

Autosomal recessive pathogenic <i>MSTO1</i> variants in hereditary optic atrophy

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.

<i>MCAT</i> Mutations Cause Nuclear LHON-like Optic Neuropathy

Congenital Microcoria: Clinical Features and Molecular Genetics

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic <em>RPGRIP1 </em>Pathologic Variant in the French Leber Congenital Amaurosis Cohort

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

GENETICS OF LARGE PIGMENT EPITHELIAL DETACHMENTS IN NEOVASCULAR AGE-RELATED MACULAR DEGENERATION.

Collaborators (7)

Jorge Diaz

Roly Megaw

Jacob Anderson

Stefan Unger

Marie-Justine GUERQUIN

Elisabeth Graf

Amelia Shoemark

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