Céline Bonnet at Université de Lorraine Nancy France - Research Interests, Publications & Academic Profile

Céline Bonnet

University Name

France

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ORCID

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Research Interests

Neurology

30%

Maternal And Child Health

20%

Medical Science

80%

Rare Disease

40%

Exome Sequencing

30%

Osteogenesis Imperfecta

20%

Gwas

20%

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Articles10

Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay

Article Link

Year:

2023

<scp>Non‐GAA</scp>Repeat Expansions in<scp>FGF14</scp>Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia:<scp>FGF14</scp>and<scp>RFC1</scp>Repeat Expansions in Affected and Unaffected Members of a Chilean Family”

Article Link

Year:

2023

Natural History and Phenotypic Spectrum of GAA‐FGF14 Sporadic Late‐Onset Cerebellar Ataxia (SCA27B)

Article Link

Year:

2023

Unraveling the Missing Heritability in Late‐Onset Cerebellar Ataxia

Article Link

Year:

2023

Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia

Article Link

Year:

2023

Putative founder effect of Arg338* <scp>AP4M1</scp> (<scp>SPG50</scp>) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families

Article Link

Year:

2022

First report of a short in‐frame biallelic deletion removing part of the EGF‐like domain calcium‐binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C

Article Link

Year:

2022

Genetic studies in isolated bilateral clubfoot detected by prenatal ultrasound.

Article Link

Year:

2022

Utility of chromosomal microarray analysis for the exploration of isolated and severe fetal growth restriction diagnosed before 24 weeks' gestation

Article Link

Year:

2022

Next-generation sequencing: a decisive diagnostic aid for atypical Wilson's disease.

Article Link

Year:

2022

Collaborators3

Henry Houlden

UNITED KINGDOM

Bernt Popp

Charité - Universitätsmedizin Berlin

GERMANY

André Reis

Professor

Friedrich-Alexander Universität Erlangen-Nürnberg

GERMANY

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Céline Bonnet

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Research Interests

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Articles10

Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay

<scp>Non‐GAA</scp>Repeat Expansions in<scp><i>FGF14</i></scp>Are Likely Not Pathogenic—Reply to: “<i>Shaking Up Ataxia</i>:<scp><i>FGF14</i></scp>and<scp><i>RFC1</i></scp>Repeat Expansions in Affected and Unaffected Members of a Chilean Family”

Natural History and Phenotypic Spectrum of GAA‐FGF14 Sporadic Late‐Onset Cerebellar Ataxia (SCA27B)

Unraveling the Missing Heritability in Late‐Onset Cerebellar Ataxia

Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia

Putative founder effect of Arg338* <scp><i>AP4M1</i></scp> (<scp>SPG50</scp>) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families

First report of a short in‐frame biallelic deletion removing part of the EGF‐like domain calcium‐binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C

Genetic studies in isolated bilateral clubfoot detected by prenatal ultrasound.

Utility of chromosomal microarray analysis for the exploration of isolated and severe fetal growth restriction diagnosed before 24 weeks' gestation

Next-generation sequencing: a decisive diagnostic aid for atypical Wilson's disease.

Collaborators3

Henry Houlden

Bernt Popp

André Reis

How do Indian students reach out?