Evidence map›Paper›PMID 42829511›Full record

SynthesisHuman mutation2026

Genotype-Phenotype Relationships in Patients Carrying Biallelic

Antoine Paul, Ghizlene Lahlou, Sophie Achard, Jérôme Nevoux, Isabelle Mosnier, Isabelle Rouillon, Yann Nguyen, Maya Benali, Jean-François Papon, Agnes Rotig and 6 more

Abstract readSystematic Review
In one paragraph

Synthesis in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Antoine PaulDepartment of Otolaryngology Bicetre Hospital APHP Le Kremlin-Bicêtre France.ORCID https://orcid.org/0000-0002-8034-9346
Ghizlene LahlouDepartment of Otolaryngology and Auditory Implants Pitie-Salpetriere Hospital AP-HP Sorbonne University Paris France sorbonne-universites.fr.ORCID https://orcid.org/0000-0002-1067-045X
Sophie AchardDepartment of Pediatric Otolaryngology Necker-Enfants Malades Hospital APHP Paris France.ORCID https://orcid.org/0000-0002-2155-7428
Jérôme NevouxDepartment of Otolaryngology Bicetre Hospital APHP Le Kremlin-Bicêtre France.
Isabelle MosnierDepartment of Otolaryngology and Auditory Implants Pitie-Salpetriere Hospital AP-HP Sorbonne University Paris France sorbonne-universites.fr.ORCID https://orcid.org/0000-0003-0458-4827
Isabelle RouillonDepartment of Pediatric Otolaryngology Necker-Enfants Malades Hospital APHP Paris France.
Yann NguyenDepartment of Otolaryngology and Auditory Implants Pitie-Salpetriere Hospital AP-HP Sorbonne University Paris France sorbonne-universites.fr.ORCID https://orcid.org/0000-0003-4635-0658
Maya BenaliDepartment of Ophthalmology Bicetre Hospital APHP CRMR OPHTARA Paris-Saclay University Paris France universite-paris-saclay.fr.
Jean-François PaponDepartment of Otolaryngology Bicetre Hospital APHP Le Kremlin-Bicêtre France.
Agnes RotigGenetics of Rare Ophthalmological Auditory and Mitochondrial Disorders Inserm UMR S1163 Imagine Institute Paris France.ORCID https://orcid.org/0000-0003-0589-0703
Margaux Serey-GautReference Center for Genetic Hearing Loss Department of Genomic Medicine for Rare Diseases Necker-Enfants Malades Hospital APHP Paris France.ORCID https://orcid.org/0000-0002-1165-0872
Celine LabeyrieDepartment of Neurology French National Reference Center for Rare Neuropathies Bicetre Hospital APHP Le Kremlin-Bicêtre France.ORCID https://orcid.org/0000-0001-9765-709X
Guillemette BeaudonnetDepartment of Neurology French National Reference Center for Rare Neuropathies Bicetre Hospital APHP Le Kremlin-Bicêtre France.ORCID https://orcid.org/0000-0002-7342-3712
Laurence JonardReference Center for Genetic Hearing Loss Department of Genomic Medicine for Rare Diseases Necker-Enfants Malades Hospital APHP Paris France.ORCID https://orcid.org/0000-0003-0369-0505
Ralyath BalogounReference Center for Genetic Hearing Loss Department of Genomic Medicine for Rare Diseases Necker-Enfants Malades Hospital APHP Paris France.ORCID https://orcid.org/0000-0002-1704-577X
Sandrine MarlinGenetics of Rare Ophthalmological Auditory and Mitochondrial Disorders Inserm UMR S1163 Imagine Institute Paris France.ORCID https://orcid.org/0000-0002-4115-9806

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Biallelic pathogenic

Indexed as

Ferredoxin-NADP ReductaseGenetic Association StudiesMutationAdolescentAdultAllelesChildChild, PreschoolFemaleHumansMalePhenotypeFerredoxin-NADP ReductasedeafnessFDXRferredoxin reductasegeneticsneuropathyreview

Identifiers

PMID42829511
PMCPMC13633460

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.