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Florence Petit

Université de Lille

France

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Professors in France Professors in Biochemistry Biochemistry professors in France

Articles (20)

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2026

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Collaborators (22)

Abderaouf Hamza

Assistant Lecturer

Université Paris Cité

FRANCE

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Meena Balasubramanian

University of Sheffield

UNITED KINGDOM

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Abdulrahman Aldeeri

Harvard University

UNITED STATES

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Benjamin Fournier

Professor

Université Paris-Saclay

FRANCE

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Agnes Bloch-Zupan

Subgroup LEADER : Craniofacial and oral developments, and their associated abnormalities; Teams : Pathophysiology of Down's syndrome and rare dose-effect diseases causing intellectual disabilities (ID) or autism spectrum disorders (ASD) and other comorbidities

University of Strasbourg

FRANCE

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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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Universitätsklinikum Essen Institut für Humangenetik

GERMANY

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Allan Bayat

University of Southern Denmark

DENMARK

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Matthieu Egloff

université de poitiers inserm 1084

FRANCE

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Professor

Duke University School of Medicine

UNITED STATES

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Florence Petit

Research Interests

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Articles (20)

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Phenotype-specific muscle proteomic profiling in titinopathies

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants

Laminopathies: natural history and risk prediction of heart failure

Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with &lt;i&gt;NF1&lt;/i&gt; point variants.

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

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in<i>FGD1</i>and management recommendations

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

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

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

MED13L pathogenic missense variants impair protein stability and interaction, underlying diverse clinical outcomes

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches

<i>RPL26</i> variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront

Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome

RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome

Collaborators (22)

Abderaouf Hamza

Meena Balasubramanian

Abdulrahman Aldeeri

Benjamin Fournier

Agnes Bloch-Zupan

Paul Kuentz

Richard Redon

Louise-Marie CHEVALIER

Caroline Rooryck

Eric Pasmant

Timothy Yu

Sarah Baer

John Rendu

Wojciech Galej

Elsa Leitão

Allan Bayat

Matthieu Egloff

Pierre Vande Perre

Hélène Cavé

Ana Krepischi

Gael Nicolas

Andrew Landstrom

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Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variants.

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