Présentation
Contact
Sophie graduated from Pierre et Marie University (France) obtaining a Master degree in Cellular and Molecular Biology (specialty: Molecular Basis of Oncogenesis). She entered the Bio Sorbonne Paris Cite’ PhD school in 2017. In Dr. Annarita Miccio’s lab, she is currently working on lentiviral and genome editing technologies for the treatment of beta-hemoglobinopathies.
Ressources & publications
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2019Journal (source)Hum. Mol. Genet.Human IFT52 mutations uncover a novel role for the protein in microtubule dyn...
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2020Journal (source)J. Bone Miner. Res.
Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe...
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2020Journal (source)Bone
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphal...
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2020Journal (source)J. Exp. Med.
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann ...
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2018Journal (source)Nat Commun.
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2018Journal (source)Nat Commun
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2014Journal (source)Am J Hum Genet
XYLT1 mutations in Desbuquois dysplasia type 2.
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2018Journal (source)J Med Genet
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfe...
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2018Journal (source)Eur J Hum Genet
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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2019Journal (source)FASEB J
Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.
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2009Journal (source)Am J Hum Genet
Identification of CANT1 mutations in Desbuquois dysplasia.
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2009Journal (source)Am J Hum Genet
Identification of CANT1 mutations in Desbuquois dysplasia.
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2018Journal (source)Nat Commun
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2014Journal (source)Am J Hum Genet
XYLT1 mutations in Desbuquois dysplasia type 2.
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2018Journal (source)J Med Genet
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfe...
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2018Journal (source)Eur J Hum Genet
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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2019Journal (source)FASEB J
Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.
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2009Journal (source)Am J Hum Genet
Identification of CANT1 mutations in Desbuquois dysplasia.
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2011Journal (source)Nat Genet
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syn...
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2013Journal (source)Am J Hum Genet
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asp...
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Journal (source)Ther Adv Endocrinol Metab. 2020
New perspectives on the treatment of skeletal dysplasia.
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2015Journal (source)Am J Hum Genet
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...
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2012Journal (source)Am J Hum Genet
TCTN3 mutations cause Mohr-Majewski syndrome.
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2011Journal (source)Nat Genet
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
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2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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2020Journal (source)Genet Med
Phenotypic spectrum and transcriptomic profile associated with germline varia...
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2020Journal (source)Brain
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa...
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2012Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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2012Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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2024Journal (source)Clin Genet
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
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2024Journal (source)Sci Rep
Next generation phenotyping for diagnosis and phenotype-genotype correlations...