Sophie SAUNIER | Institut Imagine

Présentation

Sophie SAUNIER

Laboratoire des Maladies Rénales Héréditaires

Contact :

01 42 75 43 44

sophie.saunier@inserm.fr

À propos

Publications scientifiques

Publications

2026

Developmental switch dichotomizes kidney response to NPHP3 inactivation and t..., openRxiv
2026

A cilia-dependent inflammatory programme links bacterial detection to kidney ..., openRxiv
2026

COBT: a gene-based rare variant burden test for case-only study designs using..., Genome Med
2026

Ciliogenic pancreatopathy reveals a link between ciliopathies and exocrine pa..., openRxiv
2025

Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease., Clin J Am Soc Nephrol
2025

Enhancing rare disease detection with deep phenotyping from EHR narratives: e..., Int J Med Inform
2025

Structure-Activity Analysis Reveals Perturbed Cilia-Jun N-Terminal Kinase Sig..., Kidney Int Rep
2025

IL1β is induced in nephronophthisis but does not mediate kidney damage., Genes Dis
2025

Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis., Kidney Int Rep
2024

The ANKS3/BICC1 protein complex is a master post-transcriptional regulator of..., openRxiv
2023

Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medu..., Front Mol Biosci
2023

Meta-analysis of single-cell and single-nucleus transcriptomics reveals kidne..., Sci Data
2023

Repurposing small molecules for nephronophthisis and related renal ciliopathies., Kidney Int
2023

The genetic landscape and clinical spectrum of nephronophthisis and related c..., Kidney Int
2023

Improving Patient Similarity Using Different Modalities of Phenotypes Extract..., Stud Health Technol Inform
2022

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders..., J Bone Miner Res
2022

Agonists of prostaglandin E receptors as potential first in class treatment f..., Proc Natl Acad Sci U S A
2022

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary..., J Vis Exp
2022

Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Su..., Front Pharmacol
2022

The renal inflammatory network of nephronophthisis., Hum Mol Genet
2022

YAP restricts renal inflammation and mitigates kidney damage in nephronothisi..., openRxiv
2022

Targeted next-generation sequencing in a large series of fetuses with severe ..., Hum Mutat
2021

Identification of Similar Patients Through Medical Concept Embedding from Ele..., Stud Health Technol Inform
2021

Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis., Front Cell Dev Biol
2020

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a rena..., Kidney Int
2020

Novel nephronophthisis-associated variants reveal functional importance of MA..., Kidney Int
2020

Diagnosis support systems for rare diseases: a scoping review., Orphanet J Rare Dis
2019

Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping., J Biomed Inform
2019

Human IFT52 mutations uncover a novel role for the protein in microtubule dyn..., Hum Mol Genet
2018

Loss-of-function mutations in KIF14 cause severe microcephaly and kidney deve..., Hum Mol Genet
2018

Cell type-specific regulation of ciliary transition zone assembly in vertebra..., EMBO J
2018

Casein kinase 1ε and 1α as novel players in polycystic kidney disease and mec..., Am J Physiol Renal Physiol
2017

Functional characterization of tektin-1 in motile cilia and evidence for TEKT..., Hum Mol Genet
2017

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice., Am J Hum Genet
2017

A human patient-derived cellular model of Joubert syndrome reveals ciliary de..., Hum Mol Genet
2017

Targeted Exome Sequencing Identifies as Involved in Monogenic Congenital Ano..., J Am Soc Nephrol
2017

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronop..., Am J Hum Genet
2017

KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone..., Nat Commun
2017

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronop..., Am J Hum Genet
2016

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis., Hum Mutat
2016

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YA..., PLoS Genet
2015

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition ..., Nat Cell Biol
2015

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule..., Nat Commun
2015

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p..., J Med Genet
2015

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ..., Am J Hum Genet
2015

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the cilia..., J Cell Biol
2013

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl..., Hum Mutat
2012

TCTN3 mutations cause Mohr-Majewski syndrome., Am J Hum Genet
2012

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations., Am J Hum Genet
2010

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and relat..., Nat Genet
2009

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp..., Hum Mutat

Présentation

À propos

Publications scientifiques

Developmental switch dichotomizes kidney response to NPHP3 inactivation and t..., openRxiv

A cilia-dependent inflammatory programme links bacterial detection to kidney ..., openRxiv

COBT: a gene-based rare variant burden test for case-only study designs using..., Genome Med

Ciliogenic pancreatopathy reveals a link between ciliopathies and exocrine pa..., openRxiv

Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease., Clin J Am Soc Nephrol

Enhancing rare disease detection with deep phenotyping from EHR narratives: e..., Int J Med Inform

Structure-Activity Analysis Reveals Perturbed Cilia-Jun N-Terminal Kinase Sig..., Kidney Int Rep

IL1β is induced in nephronophthisis but does not mediate kidney damage., Genes Dis

Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis., Kidney Int Rep

The ANKS3/BICC1 protein complex is a master post-transcriptional regulator of..., openRxiv

Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medu..., Front Mol Biosci

Meta-analysis of single-cell and single-nucleus transcriptomics reveals kidne..., Sci Data

Repurposing small molecules for nephronophthisis and related renal ciliopathies., Kidney Int

The genetic landscape and clinical spectrum of nephronophthisis and related c..., Kidney Int

Improving Patient Similarity Using Different Modalities of Phenotypes Extract..., Stud Health Technol Inform

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders..., J Bone Miner Res

Agonists of prostaglandin E receptors as potential first in class treatment f..., Proc Natl Acad Sci U S A

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary..., J Vis Exp

Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Su..., Front Pharmacol

The renal inflammatory network of nephronophthisis., Hum Mol Genet

YAP restricts renal inflammation and mitigates kidney damage in nephronothisi..., openRxiv

Targeted next-generation sequencing in a large series of fetuses with severe ..., Hum Mutat

Identification of Similar Patients Through Medical Concept Embedding from Ele..., Stud Health Technol Inform

Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis., Front Cell Dev Biol

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a rena..., Kidney Int

Novel nephronophthisis-associated variants reveal functional importance of MA..., Kidney Int

Diagnosis support systems for rare diseases: a scoping review., Orphanet J Rare Dis

Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping., J Biomed Inform

Human IFT52 mutations uncover a novel role for the protein in microtubule dyn..., Hum Mol Genet

Loss-of-function mutations in KIF14 cause severe microcephaly and kidney deve..., Hum Mol Genet

Cell type-specific regulation of ciliary transition zone assembly in vertebra..., EMBO J

Casein kinase 1ε and 1α as novel players in polycystic kidney disease and mec..., Am J Physiol Renal Physiol

Functional characterization of tektin-1 in motile cilia and evidence for TEKT..., Hum Mol Genet

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice., Am J Hum Genet

A human patient-derived cellular model of Joubert syndrome reveals ciliary de..., Hum Mol Genet

Targeted Exome Sequencing Identifies as Involved in Monogenic Congenital Ano..., J Am Soc Nephrol

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronop..., Am J Hum Genet

KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone..., Nat Commun

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronop..., Am J Hum Genet

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis., Hum Mutat

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YA..., PLoS Genet

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition ..., Nat Cell Biol

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule..., Nat Commun

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p..., J Med Genet

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ..., Am J Hum Genet

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the cilia..., J Cell Biol

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl..., Hum Mutat

TCTN3 mutations cause Mohr-Majewski syndrome., Am J Hum Genet

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations., Am J Hum Genet

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and relat..., Nat Genet

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp..., Hum Mutat