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Laurence Faivre is an expert in Genetics at Centre Hospitalier Universitaire Dijon Bourgogne (France). As of October 2026, ScienceLeadR ranks Laurence Faivre in the top 1% of experts worldwide for Congenital Abnormalities. Laurence Faivre has authored 810 publications, the most recent in 2026, and is an investigator in 23 clinical trials, 10 of them ongoing. SLR score: 2,390 (community average: 125). How the SLR is computed.

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Laurence Faivre Centre Hospitalier Universitaire Dijon Bourgogne France
2 390 ScienceLeadR Reputation 2390

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Genetics

Subspecialties: Biochemistry - Neurology - Psychiatry

Full career – Last 3 years

Main Topics

Publications and Clinical Studies

Publications – Clinical Studies

Profile data updated on

Expert Rankings

Top experts on the MeSH terms this expert works on

Organizations

Career arc: 2014 - 2026
Source: PubMed

Centre Hospitalier Universitaire Dijon Bourgogne

Publications Synthesis

Sources: PubMed, OpenAlex

Number : 810

Citations

Citations: 43 614 1st author: 29 Last author: 95 Unique author: 0

Main journals

Eur J Hum Genet 77
Am J Med Genet A 56
Am J Hum Genet 52
Clin Genet 48
Genet Med 46

Best Journals

Nat Genet 4
Nature 3
Science 3

Breakdown by type

Click a legend label to hide or show it in the chart.

Latest Publications

5 most recent indexed articles

Source: Pubmed

Title Journal Year Citations
Healthcare professionals' views on expanding newborn screening with or without genomics in France: Results of the SeDeN-p2 study.
PMID 42839023 — genomics, infant, newborn, genetics, neonatal screening		Eur J Hum Genet20260
Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012-2022).
PMID 42839024 — genes		Eur J Hum Genet20260
Disease characteristics of SEPSECS deficiency: an international, retrospective, multicenter cohort study.
PMID 42603098 — genes, cohort studies, neurodevelopmental disorders, diagnosis, therapeutics, plasma, glutathione, neurodevelopment		Genet Med20260
Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.
PMID 42486908 — neurodevelopment		EMBO Mol Med20260
Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires.
PMID 42482093 — hyperphagia, eating, rare diseases, craving, phenotype, neurodevelopmental disorders, food, obesity, hunger, impulsive behavior, child, neurodevelopment		Orphanet J Rare Dis20260

Clinical Studies 23

Sources: ClinicalTrials, EU CTIS

Synthesis

Principal Investigator: 1

By phase:

N/A 18
Phase 2 2
Phase 3 2
Phase 2/Phase 3 1

By status:

Recruiting 13
Completed 5
Active not recruiting 2
Not yet recruiting 1
Terminated 1
Unknown 1

By type:

Interventional 14
Observational 9

By Monocentric/Multicentric:

monocentric 11
multicentric2to4 0
multicentric5to9 6
multicentricup10 6

Main Topics

Cohort/Consortium Investigators 22

Ongoing Clinical Trials

10 ongoing trials started since 2021, where this expert is an investigator

Source: ClinicalTrials

Study Phase Status Start
Alpelisib for the treatment of lymphatic malformations associated with a PIK3CA mutation
2023-504146-60-00 — safety, therapeutics, mutation, pharmacokinetics		Phase 2/Phase 3Recruiting2024
A research study to find out if the study treatment alpelisib (BYL719) is safe for a long period of time for who has confirmed diagnosis of PIK3CA related overgrowth spectrum (PROS)
2023-508522-95-00 — safety, diagnosis, research, therapeutics		Phase 2Active not recruiting2022
A Pilot Study to Assess the Feasibility and Acceptability of Newborn Screening Using in Silico Panel based Solo Genome Sequencing in France
NCT06875089 — depression, pilot projects, genes, pilots, interviews as topic, infant, newborn, rare diseases, neonatal screening, genome, records, therapeutics, child, medical records		N/ARecruiting2025
Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project
NCT06549218 — digital technology, whole genome sequencing, infant, newborn, rare diseases, neonatal screening, genome, signs and symptoms, diagnosis, genetic diseases, inborn		N/ARecruiting2024
Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project the French Participation
NCT06528548 — research design, genes, genetic testing, blood, infant, newborn, rare diseases, neonatal screening, genetic predisposition to disease, diagnosis, therapeutics, genetic diseases, inborn, child		N/ARecruiting2025

LeadR Networks

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Sources: PubMed, OpenAlex, ClinicalTrials, EU CTIS