World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
54
Citations
10437
World Ranking
3650
National Ranking
187

Overview

Sophie Saunier is affiliated with Université Paris Cité in France and has an extensive publication record focusing on genetic and kidney-related diseases. Their work spans multiple fields, including Biochemistry, Genetics and Molecular Biology, and Medicine.

The scientist has contributed significantly to several subfields such as Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health, Artificial Intelligence, and Pathology and Forensic Medicine.

Saunier's research addresses critical topics including Genetic and Kidney Cyst Diseases, Renal and related cancers, Genomics and Rare Diseases, Biomedical Research and Pathophysiology, Biomedical Text Mining and Ontologies, Fetal and Pediatric Neurological Disorders, and Pediatric Urology and Nephrology Studies.

Frequent publication venues for Saunier include:

  • Kidney International
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Orphanet Journal of Rare Diseases
  • Studies in health technology and informatics
  • Journal of Visualized Experiments

Key recent papers authored or co-authored by Saunier include:

  • Diagnosis support systems for rare diseases: a scoping review, 2020, Orphanet Journal of Rare Diseases
  • Agonists of prostaglandin E 2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies, 2022, Proceedings of the National Academy of Sciences
  • The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies, 2023, Kidney International
  • Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis, 2021, Frontiers in Cell and Developmental Biology
  • Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia, 2020, Kidney International

Saunier often collaborates with several researchers in their field. Frequent co-authors include:

  • Alexandre Benmerah
  • Xiaoyi Chen
  • Nicolas Garcelon
  • Anita Burgun
  • Amandine Viau

Best Publications

  • The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

    Marion Delous;Lekbir Baala;Rémi Salomon;Christine Laclef;Christine Laclef

  • Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

    Moumita Chaki;Rannar Airik;Amiya K. Ghosh;Rachel H. Giles

  • TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

    Erica E. Davis;Qi Zhang;Qin Liu;Bill H. Diplas

  • Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

    Edgar A Otto;Toby W Hurd;Rannar Airik;Moumita Chaki

  • Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

    Lekbir Baala;Sophie Audollent;Jéléna Martinovic;Catherine Ozilou

  • The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia

    Anahi Molla-Herman;Rania Ghossoub;Rania Ghossoub;Thierry Blisnick;Alice Meunier

  • Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

    Enza Maria Valente;Clare V Logan;Soumaya Mougou-Zerelli;Jeong Ho Lee

  • INF2 Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy

    Olivia Boyer;Fabien Nevo;Emmanuelle Plaisier;Benoit Funalot

  • Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

    Jan Halbritter;Albane A. Bizet;Miriam Schmidts;Jonathan D. Porath

  • The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

    Lekbir Baala;Stéphane Romano;Rana Khaddour;Sophie Saunier

  • Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

    Cecilie Bredrup;Sophie Saunier;Sophie Saunier;MacHteld M. Oud;Torunn Fiskerstrand;Torunn Fiskerstrand

  • The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.

    Géraldine Mollet;Rémi Salomon;Olivier Gribouval;Flora Silbermann

  • Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

    Isabelle Perrault;Sophie Saunier;Sylvain Hanein;Emilie Filhol

  • ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

    Sylvia Hoff;Jan Halbritter;Daniel Epting;Valeska Frank

  • High NPHP1 and NPHP6 Mutation Rate in Patients with Joubert Syndrome and Nephronophthisis: Potential Epistatic Effect of NPHP6 and AHI1 Mutations in Patients with NPHP1 Mutations

    Kálmán Tory;Tiphanie Lacoste;Lydie Burglen;Vincent Morinière

  • A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.

    S Saunier;J Calado;R Heilig;F Silbermann

  • Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes

    Géraldine Mollet;Flora Silbermann;Marion Delous;Rémi Salomon

  • Large Homozygous Deletions of the 2q13 Region Are a Major Cause of Juvenile Nephronophthisis

    Martin Konrad;Sophie Saunier;Laurence Heidet;Flora Silbermann

  • Nephronophthisis

    Rémi Salomon;Sophie Saunier;Patrick Niaudet

  • Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

    Sophie Saunier;Joaquim Calado;Flora Silbermann

Frequent Co-Authors

Corinne Antignac
Corinne Antignac Institut Imagine
Friedhelm Hildebrandt
Friedhelm Hildebrandt Boston Children's Hospital
Alexandre Benmerah
Alexandre Benmerah Institut Imagine
Tania Attié-Bitach
Tania Attié-Bitach Université Paris Cité
Edgar A. Otto
Edgar A. Otto University of Michigan–Ann Arbor
Stanislas Lyonnet
Stanislas Lyonnet Université Paris Cité
Patrick Nitschke
Patrick Nitschke Université Paris Cité
Valérie Cormier-Daire
Valérie Cormier-Daire Necker-Enfants Malades Hospital
Isabelle Perrault
Isabelle Perrault Université Paris Cité

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