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Serge Amselem

Serge Amselem

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Genetics
France
2024

D-Index & Metrics

Genetics

D-Index
77
Citations
17169
World Ranking
1781
National Ranking
77

Research.com Recognitions

  • 2024 - Research.com Genetics in France Leader Award

Overview

Serge Amselem is affiliated with Inserm in France, focusing primarily on medicine and biochemistry, genetics, and molecular biology. Their research encompasses various subfields, including pulmonary and respiratory medicine, molecular biology, genetics, immunology, and rheumatology.

Their work covers several main topics that reflect the breadth of their scientific interests. These topics include:

  • Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
  • Neonatal Respiratory Health Research
  • Inflammasome and immune disorders
  • Medical Imaging and Pathology Studies
  • Interferon and immune responses
  • Genetic and Kidney Cyst Diseases
  • NF-κB Signaling Pathways

Amselem has published extensively in multiple journals. Frequent publication venues include:

  • Revue d Épidémiologie et de Santé Publique
  • Revue des Maladies Respiratoires Actualités
  • La Revue de Médecine Interne
  • Orphanet Journal of Rare Diseases
  • European Respiratory Journal

Recent scientific papers authored or coauthored by Amselem demonstrate a focus on genetic mutations, respiratory disorders, and molecular mechanisms affecting cellular function. Notable publications include:

  • "Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling," published in 2020 in The Journal of Experimental Medicine
  • "TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella," 2020, The American Journal of Human Genetics
  • "Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer," 2020, European Respiratory Journal
  • "Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules," 2024, Science
  • "Neutrophilic dermatoses," 2022, La Revue de Médecine Interne

Amselem frequently collaborates with a group of coauthors, including:

  • Marie Legendre
  • Irina Giurgea
  • Camille Louvrier
  • Nadia Nathan
  • Sonia Guéguen

The range of Amselem's work reflects a multidisciplinary approach combining clinical insights and molecular biology techniques to address complex pulmonary and immunological conditions. Their publications span genetics, immune signaling pathways, and ciliary function, illustrating a consistent interest in the molecular underpinnings of respiratory and immune diseases.

Best Publications

  • Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

    Gaëlle Pennarun;Estelle Escudier;Catherine Chapelin;Anne-Marie Bridoux

  • Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.

    Irène Netchine;Marie Laure Sobrier;Heiko Krude;Dirk Schnabel

  • Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature

    Jacques Pantel;Marie Legendre;Sylvie Cabrol;Latifa Hilal

  • Mutations in NALP12 cause hereditary periodic fever syndromes

    I. Jéru;P. Duquesnoy;T. Fernandes-Alnemri;E. Cochet

  • Laron Dwarfism and Mutations of the Growth Hormone–Receptor Gene

    Serge Amselem;Philippe Duquesnoy;Olivier Attree;Giuseppe Novelli

  • CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

    Anne-Christine Merveille;Erica E Davis;Anita Becker-Heck;Anita Becker-Heck;Marie Legendre

  • Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4

    Kalotina Machinis;Jacques Pantel;Irène Netchine;Juliane Léger

  • MEFV-Gene Analysis in Armenian Patients with Familial Mediterranean Fever: Diagnostic Value and Unfavorable Renal Prognosis of the M694V Homozygous Genotype—Genetic and Therapeutic Implications

    Cécile Cazeneuve;Tamara Sarkisian;Christophe Pêcheux;Michel Dervichian

  • RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

    Anne Moore;Estelle Escudier;Gilles Roger;Aline Tamalet

  • Identification of MEFV-Independent Modifying Genetic Factors for Familial Mediterranean Fever

    Cécile Cazeneuve;Hasmik Ajrapetyan;Stéphanie Papin;Françoise Roudot-Thoraval

  • Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution.

    Jacques Pantel;Kalotina Machinis;Marie-Laure Sobrier;Philippe Duquesnoy

  • Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation

    Seth L. Masters;Seth L. Masters;Vasiliki Lagou;Isabelle Jéru;Isabelle Jéru;Paul J. Baker;Paul J. Baker

  • Alveolar epithelial cells: master regulators of lung homeostasis.

    Loïc Guillot;Nadia Nathan;Olivier Tabary;Guillaume Thouvenin

  • Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein.

    Florence Dastot;Marie-Laure Sobrier;Philippe Duquesnoy;Benedicte Duriez

  • A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia.

    Bénédicte Duriez;Philippe Duquesnoy;Estelle Escudier;Anne-Marie Bridoux

  • A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization.

    P. Duquesnoy;M.L. Sobrier;B. Duriez;F. Dastot

  • Phenotype: genotype relationships in growth hormone insensitivity syndrome.

    Katie A. Woods;Florence Dastot;Michael A. Preece;Adrian J.L. Clark

  • ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

    Maimoona A. Zariwala;Heon Yung Gee;Małgorzata Kurkowiak;Małgorzata Kurkowiak;Małgorzata Kurkowiak;Dalal A. Al-Mutairi;Dalal A. Al-Mutairi

  • Mutations of DNAI1 in Primary Ciliary Dyskinesia: Evidence of Founder Effect in a Common Mutation

    Maimoona B Zariwala;Margaret W Leigh;Franck Ceppa;Marcus P. Kennedy

  • Familial Autoinflammation with Neutrophilic Dermatosis Reveals a Novel Regulatory Mechanism of Pyrin Activation

    P. J. Baker;V. Lagou;I. Jeru;L. Van Eyck

Frequent Co-Authors

Michel Goossens
Michel Goossens Grenoble Alpes University
Annick Clement
Annick Clement Université Paris Cité
Vincent Cottin
Vincent Cottin Claude Bernard University Lyon 1
Dominique Valeyre
Dominique Valeyre Université Paris Cité
Darragh Duffy
Darragh Duffy Institut Pasteur
Bénédicte Neven
Bénédicte Neven Université Paris Cité
Alain Schmitt
Alain Schmitt Institut Cochin
Ruth Gershoni-Baruch
Ruth Gershoni-Baruch Rambam Health Care Campus
Yanick J. Crow
Yanick J. Crow Université Paris Cité

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