Caroline Rooryck

University of Bordeaux

France

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Articles (10)

Year:

2025

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2025

Year:

2025

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2025

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2025

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2025

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2025

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2025

Collaborators (9)

Paul Kuentz

Professeur des Universités-Praticien Hospitalier

Centre Hospitalier Universitaire Vaudois

FRANCE

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Richard Redon

INSERM

FRANCE

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Louise-Marie CHEVALIER

Institut de Cancérologie de l'Ouest

FRANCE

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Daniel Hammersley

Imperial College London

UNITED KINGDOM

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Eric Pasmant

Head

Institut Curie

FRANCE

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Sarah Baer

Chief of resident

Hôpitaux universitaires de Strasbourg

FRANCE

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Pierre Vande Perre

Institut Claudius Regaud

FRANCE

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Hélène Cavé

PUPH, Head of the molecular Genetics unit

Hôpital Robert-Debré

FRANCE

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Kristen Medo

Research Services Professional

University of Colorado Anschutz Medical Campus

UNITED STATES

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Caroline Rooryck

Research Interests

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Articles (10)

<i>PFMG2025</i>-integrating genomic medicine into the national healthcare system in France.

Titin-related familial dilated cardiomyopathy: factors associated with disease onset

French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.

A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot

Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum

Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features

FLNA genomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations

Outcomes associated with fetal nuchal translucency between 3.0 and 3.4 mm in the first trimester

Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign

Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic Counseling.

Collaborators (9)

Paul Kuentz

Richard Redon

Louise-Marie CHEVALIER

Daniel Hammersley

Eric Pasmant

Sarah Baer

Pierre Vande Perre

Hélène Cavé

Kristen Medo

Make your next move.

Caroline Rooryck

Research Interests

Explore related searches

Contact this professor

Articles (10)

&lt;i&gt;PFMG2025&lt;/i&gt;-integrating genomic medicine into the national healthcare system in France.

Titin-related familial dilated cardiomyopathy: factors associated with disease onset

French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.

A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot

Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum

Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features

FLNA genomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations

Outcomes associated with fetal nuchal translucency between 3.0 and 3.4 mm in the first trimester

Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign

Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic Counseling.

Collaborators (9)

Paul Kuentz

Richard Redon

Louise-Marie CHEVALIER

Daniel Hammersley

Eric Pasmant

Sarah Baer

Pierre Vande Perre

Hélène Cavé

Kristen Medo

Make your next move.

<i>PFMG2025</i>-integrating genomic medicine into the national healthcare system in France.