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Laurence Faivre

Laurence Faivre

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Genetics
France
2024
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Genetics and Molecular Biology
France
2024

D-Index & Metrics

Genetics

D-Index
100
Citations
40934
World Ranking
749
National Ranking
19

Medicine

D-Index
101
Citations
42341
World Ranking
7902
National Ranking
241

Research.com Recognitions

  • 2024 - Research.com Genetics in France Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in France Leader Award

Overview

Laurence Faivre is affiliated with the University of Burgundy in France and has a research portfolio that spans genetics, molecular biology, and medicine. Their work focuses extensively on genomics and rare diseases, with significant contributions to the understanding of neurodevelopmental disorders and congenital heart defects.

The main fields of study for Faivre include Biochemistry, Genetics and Molecular Biology, and Medicine. Within these broad areas, the subfields they have contributed to most frequently are:

  • Genetics
  • Molecular Biology
  • Cardiology and Cardiovascular Medicine
  • Pediatrics, Perinatology and Child Health
  • Cognitive Neuroscience

Key topics explored in Faivre's research cover:

  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • Genomic variations and chromosomal abnormalities
  • Congenital heart defects research
  • Epigenetics and DNA Methylation
  • RNA modifications and cancer
  • RNA Research and Splicing

Faivre has published numerous papers, some selected examples include:

  • "Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders" (2020) in The American Journal of Human Genetics
  • "Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development" (2020) in Neuron
  • "Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders" (2021) in Human Genetics and Genomics Advances
  • "Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility" (2022) in Nature Genetics
  • "Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases" (2021) in European Journal of Human Genetics

The venues where Faivre frequently publishes include:

  • European Journal of Human Genetics
  • Clinical Genetics
  • The American Journal of Human Genetics
  • Genetics in Medicine
  • bioRxiv (Cold Spring Harbor Laboratory)

Faivre regularly collaborates with several co-authors, including:

  • Antonio Vitobello
  • Christel Thauvin-Robinet
  • Ange-Line Bruel
  • Christophe Philippe
  • Frédéric Tran Mau-Them

Best Publications

  • Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

    Karoline B. Kuchenbaecker;Karoline B. Kuchenbaecker;John L. Hopper;Daniel R. Barnes;Kelly-Anne Phillips

  • The revised Ghent nosology for the Marfan syndrome

    Bart L Loeys;Harry C Dietz;Alan C Braverman;Bert L Callewaert

  • Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

    Stig E. Bojesen;Stig E. Bojesen;Karen A. Pooley;Sharon E. Johnatty;Jonathan Beesley

  • Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

    Gillian I Rice;Yoandris del Toro Duany;Yoandris del Toro Duany;Emma M Jenkinson;Gabriella M A Forte

  • Effect of mutation type and location on clinical outcome in 1,013 probands with marfan syndrome or related phenotypes and FBN1 mutations : An international study

    L. Faivre;G. Collod-Beroud;G. Collod-Beroud;B.L. Loeys;A. Child

  • A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

    Corine Bertolotto;Fabienne Lesueur;Sandy Giuliano;Thomas Strub

  • Autoantibodies neutralizing type I IFNs are present in ~ 4% of uninfected individuals over 70 years old and account for ~ 20% of COVID-19 deaths.

    Paul Bastard;Adrian Gervais;Adrian Gervais;Tom Le Voyer;Tom Le Voyer;Jérémie Rosain;Jérémie Rosain

  • Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

    Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood

  • Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

    Audrey Guilmatre;Christèle Dubourg;Anne-Laure Mosca;Solenn Legallic

  • Mutation spectrum and splicing variants in the OPA1 gene.

    Cécile Delettre;Jean-Michel Griffoin;Josseline Kaplan;Hélène Dollfus

  • Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

    Claire L. Navarro;Annachiara De Sandre-Giovannoli;Rafaëlle Bernard;Irène Boccaccio

  • Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

    Cynthia F. Bartels;Hülya Bükülmez;Hülya Bükülmez;Pius Padayatti;David K. Rhee

  • Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

    Roger L Milne;Roger L Milne;Karoline B Kuchenbaecker;Karoline B Kuchenbaecker;Kyriaki Michailidou;Kyriaki Michailidou;Jonathan Beesley

  • Germline deletion of the miR-17 ∼ 92 cluster causes skeletal and growth defects in humans

    Loïc de Pontual;Loïc de Pontual;Evelyn Yao;Patrick Callier;Laurence Faivre

  • A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

    Flore Zufferey;Elliott H. Sherr;Noam D. Beckmann;Ellen Hanson

  • Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

    Céline Cluzeau;Smail Hadj-Rabia;Marguerite Jambou;Sourour Mansour

  • ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.

    Nathalie Dagoneau;Catherine Benoist-Lasselin;Céline Huber;Laurence Faivre

  • In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

    L. Faivre;R. J. Gorlin;M. K. Wirtz;M. Godfrey

  • Association of complementation group and mutation type with clinical outcome in Fanconi anemia

    Laurence Faivre;Philippe Guardiola;Cathryn Lewis;Inderjeet Dokal

  • Multifocal Ectopic Purkinje-Related Premature Contractions A New SCN5A-Related Cardiac Channelopathy

    Gabriel Laurent;Samuel Saal;Mohamed Yassine Amarouch;Delphine M. Béziau

Frequent Co-Authors

Christel Thauvin-Robinet
Christel Thauvin-Robinet University of Burgundy
Julien Thevenon
Julien Thevenon Centre Hospitalier Universitaire de Grenoble
Valérie Cormier-Daire
Valérie Cormier-Daire Necker-Enfants Malades Hospital
Arnold Munnich
Arnold Munnich Necker-Enfants Malades Hospital
Jeanne Amiel
Jeanne Amiel Université Paris Cité
Stanislas Lyonnet
Stanislas Lyonnet Université Paris Cité
Sylvie Odent
Sylvie Odent University of Rennes
Alain Verloes
Alain Verloes Université Paris Cité
Didier Lacombe
Didier Lacombe University of Bordeaux

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