Sophie Saunier

Université Paris Cité

France

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Articles (10)

Year:

2022

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2022

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2022

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2022

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2022

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2022

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2022

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2021

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2021

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2021

Collaborators (6)

Xiaoyi Chen

INSERM

FRANCE

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Frank Bienaime

Assistant professor

Université de Paris Faculté de Santé

FRANCE

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Tania Attié‐Bitach

FRANCE

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Meriem GARFA TRAORE

INSERM

FRANCE

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Amandine Viau

Université Paris-Saclay

FRANCE

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Marion Delous

Université Claude Bernard Lyon 1

FRANCE

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Sophie Saunier

Research Interests

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Articles (10)

The renal inflammatory network of nephronophthisis.

Agonists of prostaglandin E<sub>2</sub> receptors as potential first in class treatment for nephronophthisis and related ciliopathies.

Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome.

Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Support Ciliopathy Diagnosis.

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development.

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Identification of Similar Patients Through Medical Concept Embedding from Electronic Health Records: A Feasibility Study for Rare Disease Diagnosis.

Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis.

Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.

Collaborators (6)

Xiaoyi Chen

Frank Bienaime

Tania Attié‐Bitach

Meriem GARFA TRAORE

Amandine Viau

Marion Delous

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