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Medicine

D-Index
87
Citations
27076
World Ranking
13672
National Ranking
436

Overview

Patrick Niaudet is affiliated with Necker-Enfants Malades Hospital in France. Their research spans multiple areas within medicine and biochemistry, genetics, and molecular biology, with a focus on pediatric and nephrological disciplines.

The main fields of study for Niaudet include:

  • Medicine
  • Biochemistry, Genetics and Molecular Biology

The primary subfields of their research cover:

  • Pediatrics, Perinatology and Child Health
  • Nephrology
  • Pathology and Forensic Medicine
  • Genetics
  • Biochemistry

Key topics explored in their work include:

  • Renal Diseases and Glomerulopathies
  • Biomedical Research and Pathophysiology
  • Amino Acid Enzymes and Metabolism
  • Coagulation, Bradykinin, Polyphosphates, and Angioedema
  • Neonatal Health and Biochemistry
  • Amyloidosis: Diagnosis, Treatment, Outcomes
  • Pregnancy and Medication Impact

Niaudet has authored numerous papers, with recent publications including:

  • "An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis," 2021, Kidney International
  • "The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies," 2023, Kidney International
  • "Hemolytic-Uremic Syndrome in Children," 2022, Pediatric Clinics of North America
  • "Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study," 2022, Journal of Inherited Metabolic Disease
  • "Association between 25(OH) vitamin D and graft survival in renal transplanted children," 2020, Pediatric Transplantation

Their frequent co-authors include:

  • Aude Servais
  • Gema Ariceta
  • Elena Levtchenko
  • Olivia Boyer
  • Katharina Hohenfellner

Notable publication venues for Niaudet's work are:

  • Kidney International
  • Nephrology Dialysis Transplantation
  • Pediatric Clinics of North America
  • Journal of Inherited Metabolic Disease
  • Pediatric Transplantation

Best Publications

  • NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

    Nicolas Boute;Olivier Gribouval;Séverine Roselli

  • Strict blood-pressure control and progression of renal failure in children.

    Antonella Trivelli;Stefano Picca;Mieczyslaw Litwin;Amira Peco-Antic

  • Donor splice-site mutations in WT1 are responsible for Frasier syndrome.

    Sandrine Barbaux;Patrick Niaudet;Marie-Claire Gubler;Jean-Pierre Grünfeld

  • Genetics and Outcome of Atypical Hemolytic Uremic Syndrome: A Nationwide French Series Comparing Children and Adults

    Véronique Fremeaux-Bacchi;Fadi Fakhouri;Arnaud Garnier;Frank Bienaimé

  • Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies

    Aude Servais;Aude Servais;Laure-Hélène Noël;Lubka T. Roumenina;Moglie Le Quintrec

  • 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

  • Structure of the Gene for Congenital Nephrotic Syndrome of the Finnish Type (NPHS1) and Characterization of Mutations

    Ulla Lenkkeri;Minna Männikkö;Paula McCready;Jane Lamerdin

  • Differential Impact of Complement Mutations on Clinical Characteristics in Atypical Hemolytic Uremic Syndrome

    Anne-Laure Sellier-Leclerc;Veronique Fremeaux-Bacchi;Marie-Agnès Dragon-Durey;Marie-Alice Macher

  • Heterozygous and Homozygous Factor H Deficiencies Associated with Hemolytic Uremic Syndrome or Membranoproliferative Glomerulonephritis: Report and Genetic Analysis of 16 Cases

    Marie-Agnès Dragon-Durey;Véronique Frémeaux-Bacchi;Chantal Loirat;Jacques Blouin

  • NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

    Stefanie Weber;Olivier Gribouval;Ernie L. Esquivel;Vincent Morinière

  • Anti-B-cell monoclonal antibodies in the treatment of severe B-cell lymphoproliferative syndrome following bone marrow and organ transplantation.

    Fischer A;Blanche S;Le Bidois J;Bordigoni P

  • Eculizumab in severe Shiga-toxin-associated HUS.

    Anne-Laure Lapeyraque;Michal Malina;Véronique Fremeaux-Bacchi;Tobias Boppel

  • Effect of plasma protein adsorption on protein excretion in kidney-transplant recipients with recurrent nephrotic syndrome

    Jacques Dantal;Edith Bigot;Willy Bogers;Angelo Testa

  • Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy

    Oliver Gross;Christoph Licht;Hans J. Anders;Bernd Hoppe

  • Methylprednisolone pulse therapy in the treatment of severe forms of Schönlein-Henoch purpura nephritis.

    Patrick Niaudet;Renée Habib

  • Clinical Features of Anti-Factor H Autoantibody–Associated Hemolytic Uremic Syndrome

    Marie-Agnès Dragon-Durey;Sidharth Kumar Sethi;Arvind Bagga;Caroline Blanc

  • A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

    Pascale De Lonlay;Isabelle Valnot;Antoni Barrientos;Marina Gorbatyuk

  • KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

    Hélène Louis-Dit-Picard;Hélène Louis-Dit-Picard;Julien Barc;Julien Barc;Daniel Trujillano;Stéphanie Miserey-Lenkei

  • Rituximab treatment for severe steroid- or cyclosporine-dependent nephrotic syndrome: a multicentric series of 22 cases.

    Vincent Guigonis;Aymeric Dallocchio;Véronique Baudouin;Maud Dehennault

  • Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database

    C. Jeanpierre;E. Denamur;I. Henry;M.-O. Cabanis

Frequent Co-Authors

Corinne Antignac
Corinne Antignac Institut Imagine
Chantal Loirat
Chantal Loirat Grenoble Alpes University
Pierre Cochat
Pierre Cochat Claude Bernard University Lyon 1
Marie-Agnès Dragon-Durey
Marie-Agnès Dragon-Durey Université Paris Cité
Franz Schaefer
Franz Schaefer Heidelberg University
Arnold Munnich
Arnold Munnich Necker-Enfants Malades Hospital
Philippe Froguel
Philippe Froguel Imperial College London

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