Laurence Faivre

Inserm — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

83h-index32.7kcitations708works4.22yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(162), Genomics and Rare Diseases(161), Genomic variations and chromosomal abnormalities(139), Connective tissue disorders research(68), Congenital heart defects research(65)

Publications696 total

Genomic pathway managers: a novel role in the genomic medicine care pathway in France—overview and perspectives
European Journal of Human Genetics·2025
Identification of an episignature for the MEF2C-associated syndrome
European Journal of Human Genetics·2025· 1 citedOpen Access
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
The American Journal of Human Genetics·2025· 1 citedOpen Access
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
Cell·2025· 6 citedOpen Access
PERIGENOMED-CLINICS 1—the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France
BMJ Open·2025· 1 citedOpen Access
Further phenotypical delineation of DLG3-related neurodevelopmental disorders
European Journal of Human Genetics·2025· 1 cited
Systematic Genetic Assessment in Young Patients With Cryptogenic Stroke: The ES-EASY project
Stroke·2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathies
2025· 3 citedOpen Access
Double nonallelic somatic activating oncogene variants in a series of mosaic vascular anomalies
British Journal of Dermatology·2025
Cyclic vomiting and digestive symptoms in White–Sutton syndrome: a participatory study
2025Open Access
Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape
2025Open Access
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
The American Journal of Human Genetics·2025Open Access
‘Knowing and Treating Kosaki/Penttinen syndrome’ international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors
Journal of Medical Genetics·2025
The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome‐SHS
Prenatal Diagnosis·2025Open Access
Determinants of fatigue in patients with Marfan syndrome: a study using PROMS
Orphanet Journal of Rare Diseases·2025· 1 citedOpen Access
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS
Journal of Medical Genetics·2025Open Access
<i>De novo</i> variants of <i>NALCN</i> differentially impact both the phenotypic spectrum of patients and the biophysical properties of the NALCN current
2025· 1 citedOpen Access
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Nature Genetics·2025· 27 citedOpen Access
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features
European Journal of Human Genetics·2025· 3 cited
First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende–Gupta and 22q11.2 Deletion Syndromes
Molecular Genetics & Genomic Medicine·2025Open Access
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Frequent Co-authors

Christel Thauvin‐Robinet(11), Jean‐Baptiste Rivière(11), Valérie Cormier‐Daire(10), Bertrand Isidor(9), Arnold Münnich(9), Julien Thévenon(9), Guillaume Jondeau(7), Cathérine Boileau(7), Sylvie Odent(7), Martine Le Merrer(7), Frédéric Huet(7), Christel Thauvin‐Robinet(7), Alice Masurel‐Paulet(6), Gwenaëlle Collod‐Béroud(5), Élodie Gautier(5), Patrick Callier(5), Albert David(5), André Mégarbané(5), Tania Attié‐Bitach(5), Ange‐Line Bruel(5)