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Pascal Reynier
Affiliation : Centre National de la Recherche Scientifique · Inserm · Centre Hospitalier Universitaire d'Angers · Mitochondrial and Cardiovascular Physiopathology · Université d'Angers
- 16Publications (affiliation in France)
- 419Total publications
- 15731Citations
- 68h-index
Research profile
Pascal Reynier has 16 indexed publications (2015–2026). Their work appears mainly in “Clinica Chimica Acta”, “Ophthalmology Science” and “Scientific Reports”. Their most cited article, “Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies” (2015), has been cited 75 times. 4 of these publications date from the last three years of activity. Their work is co-authored with at least 12 researchers, including institutions in Morocco, Singapore.
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Create my free profile Add my publicationsResearch areas
- Mitochondrial Function and Pathology
- Hereditary Neurological Disorders
- Metabolism and Genetic Disorders
- Glaucoma and retinal disorders
- Metabolomics and Mass Spectrometry Studies
Publications (16)
- Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 Deletion
- Machine learning-assisted quantitative metabolomics of West African patients with advanced breast cancer
- Plasma 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in breast cancer risk in Mali: A case–control study
- [Vitamin D Deficiency In Advanced Breast Cancer Risk In Mali].
- Plasma 25-Hydroxyvitamin D and 1,25-Dihydroxyvitamin D Levels in Breast Cancer Risk in Mali: A Case–Control Study
- The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands
- Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy
- DominantACO2mutations are a frequent cause of isolated optic atrophy
- Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy
- Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy
- ACO2 clinicobiological dataset with extensive phenotype ontology annotation
- Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
- Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases
- Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion
- Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration
- Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies
Publication venues
- Clinica Chimica Acta × 2
- Ophthalmology Science × 1
- Scientific Reports × 1
- PubMed × 1
- Diagnostics × 1
- Brain × 1
Publications per year
- 20261
- 20251
- 20242
- 20231
- 20222
- 20214
- 20202
- 20181
- 20161
- 20151
Collaborations
Partner institutions : Mohamed I University · Institute for Neurosciences of Montpellier · Université de Montpellier · Institut des Maladies Génétiques Imagine · Hôpital Gui de Chauliac
Co-authors’ countries : Morocco · Singapore
Co-authors
- Guy Lenaers
- Patrizia Amati‐Bonneau
- Dominique Bonneau
- Majida Charif
- Valérie Desquiret‐Dumas
- Céline Bris
- Vincent Procaccio
- David Goudenège
- Isabelle Meunier
- Naïg Guéguen
- Xavier Zanlonghi
- Agnès Guichet
Bibliographic data from OpenAlex (open database).
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