System Maintenance Notice

Please note that maintenance work is scheduled between 4 AM and 5 AM - CET. During this time, you may experience reduced performance. Thanks for your patience.

Bertrand Isidor is an expert in Genetics at Centre Hospitalier Universitaire de Nantes (France). As of October 2026, ScienceLeadR ranks Bertrand Isidor in the top 1% of experts worldwide for Congenital Abnormalities. Bertrand Isidor has authored 490 publications, the most recent in 2026, and is an investigator in 7 clinical trials, 1 of them ongoing. SLR score: 854 (community average: 125). How the SLR is computed.

LeadR Profile

Bertrand Isidor Centre Hospitalier Universitaire de Nantes France
854 ScienceLeadR Reputation 854

Unlock

Register Login
Network Map

Genetics

Subspecialties: Neurology - Biochemistry - 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: 2007 - 2026
Source: PubMed

Centre Hospitalier Universitaire de Nantes

Publications Synthesis

Sources: PubMed, OpenAlex

Number : 490

Citations

Citations: 17 161 1st author: 35 Last author: 36 Unique author: 0

Main journals

Am J Hum Genet 47
Am J Med Genet A 43
Eur J Hum Genet 39
Genet Med 35
Clin Genet 25

Best Journals

Nat Genet 2
Nature 2
N Engl J Med 1

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
Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012-2022).
PMID 42839024 — genes		Eur J Hum Genet20260
Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability.
PMID 42813498 — genes, peripheral nerves, neuromuscular junction, neurology		Ann Neurol20260
Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.
PMID 42498698 — megalencephaly, phenotype, nfi transcription factors, intellectual disability, neurodevelopment		Clin Genet20260
The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.
PMID 42638108 — genes, genomics, micrornas, neurodevelopmental disorders, immunoprecipitation, muscle hypotonia, neurodevelopment		Genome 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 7

Sources: ClinicalTrials, EU CTIS

Synthesis

By phase:

N/A 7

By status:

Completed 5
Recruiting 2

By type:

Observational 4
Interventional 3

By Monocentric/Multicentric:

monocentric 3
multicentric2to4 0
multicentric5to9 2
multicentricup10 2

Main Topics

Cohort/Consortium Investigators 8

Ongoing Clinical Trials

Ongoing trial started since 2021, where this expert is an investigator

Source: ClinicalTrials

Study Phase Status Start
Transcriptomic Approach for the Identification and Prioritization of Genome Variants in Neurodevelopmental Disorders With Malformation
NCT06762678 — whole genome sequencing, base sequence, neurodevelopmental disorders, genome, diagnosis, exome, rna, neurodevelopment		N/ARecruiting2025

LeadR Networks

Main global connection map

Sources: PubMed, OpenAlex, ClinicalTrials, EU CTIS