C. Bris

发表

Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2018, Front. Genet..

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

D. Milea, C. Bris, V. Desquiret-Dumas, 2016, Neurobiology of Disease.

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.

D. Milea, C. Bris, V. Desquiret-Dumas, 2016, Brain : a journal of neurology.

Stable and Local Reservoirs of Mycobacterium ulcerans Inferred from the Nonrandom Distribution of Bacterial Genotypes, Benin

M. Kempf, C. Bris, T. Brou, 2020, Emerging infectious diseases.

Metabo-lipidomics of Fibroblasts and Mitochondrial-Endoplasmic Reticulum Extracts from ALS Patients Shows Alterations in Purine, Pyrimidine, Energetic, and Phospholipid Metabolisms

C. Bris, G. Lenaers, P. Reynier, 2019, Molecular Neurobiology.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

Robert W. Taylor, T. Strom, H. Prokisch, 2018, JAMA neurology.

Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder

C. Fallet-Bianco, A. Laquérriere, C. Bris, 2019, American journal of medical genetics. Part A.

Metabolomics signatures of a subset of RET variants according to their oncogenic risk level.

C. Bris, P. Reynier, A. Barlier, 2019, Endocrine-related cancer.

Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability

C. Bris, E. Colin, D. Bonneau, 2019, Clinical genetics.

OxPhos Dysfunction Causes Hypermetabolism and Reduces Lifespan in Cells and in Patients with Mitochondrial Diseases

Anna S. Monzel, M. Levine, S. Horvath, 2022, bioRxiv.

Chronic Glucocorticoid Stress Reveals Increased Energy Expenditure and Accelerated Aging as Cellular Features of Allostatic Load

Anna S. Monzel, M. Levine, E. Epel, 2022, bioRxiv.

Dominantly acting variants in ARF3 have disruptive consequences on Golgi integrity and cause microcephaly recapitulated in zebrafish

B. Dallapiccola, A. Bruselles, M. Tartaglia, 2021 .

eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2018, Genetics in Medicine.

The accumulation of assembly intermediates of the mitochondrial complex I matrix arm is reduced by limiting glucose uptake in a neuronal-like model of MELAS syndrome.

C. Bris, V. Desquiret-Dumas, D. Bonneau, 2018, Biochimica et biophysica acta. Molecular basis of disease.

Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2021, Frontiers in Neurology.

Perspectives of drug-based neuroprotection targeting mitochondria.

C. Bris, D. Bonneau, P. Amati‐Bonneau, 2014, Revue neurologique.

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

M. Votruba, C. La Morgia, P. Yu-Wai-Man, 2020, Neurology: Genetics.

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish

M. Ahmadian, B. Dallapiccola, A. Bruselles, 2022, Nature Communications.

Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2022, Genes.

Mitochondrial DNA Instability Is Common in HIV-Exposed Uninfected Newborns

J. Molès, C. Bris, D. Goudenège, 2021, Journal of clinical medicine.

Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2022, Biomedicines.

[Gallium-67 scintigraphy in malignant lymphoma].

C. Gisselbrecht, C. Bris, P. Brice, 1993, Presse medicale.

Immunoassays for Measuring Serum Concentrations of Monoclonal Antibodies and Anti-biopharmaceutical Antibodies in Patients

C. Bris, G. Paintaud, H. Watier, 2017, Therapeutic drug monitoring.

Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs

A. Toutain, C. Bris, E. Colin, 2019, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment

C. Drissi, C. Bris, D. Goudenège, 2022, Bioscience reports.

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

C. Bris, V. Procaccio, L. Faivre, 2019, Human mutation.

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.

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2019, Clinica chimica acta; international journal of clinical chemistry.

OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases

Anna S. Monzel, M. Levine, Saeed Tavazoie, 2023, Communications Biology.

A multi-omics longitudinal aging dataset in primary human fibroblasts with mitochondrial perturbations

Anna S. Monzel, D. Belsky, M. Levine, 2021, bioRxiv.

Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders

M. Martin-Négrier, C. Bris, D. Goudenège, 2021, Genetics in Medicine.

Mitochondrial DNA copy number as a prognostic marker is age-dependent in adult glioblastoma

M. Sanson, D. Figarella-Branger, C. Bris, 2022, Neuro-oncology advances.

The significance of a residual mediastinal mass following treatment for aggressive non-Hodgkin's lymphomas.

C. Gisselbrecht, É. Lepage, J. Trédaniel, 1992, The European respiratory journal.

Metabo-lipidomics of Fibroblasts and Mitochondrial-Endoplasmic Reticulum Extracts from ALS Patients Shows Alterations in Purine, Pyrimidine, Energetic, and Phospholipid Metabolisms

C. Bris, G. Lenaers, P. Reynier, 2019, Molecular Neurobiology.

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

H. Prokisch, R. Jech, R. Rodenburg, 2021, Annals of neurology.

Long-Term Persistence of Mitochondrial DNA Instability in HIV-Exposed Uninfected Children during and after Exposure to Antiretroviral Drugs and HIV

J. Molès, C. Bris, D. Goudenège, 2022, Biomedicines.

Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2020, Molecular Biology Reports.

ACO2 clinicobiological dataset with extensive phenotype ontology annotation

J. D. den Dunnen, D. Milea, P. Gohier, 2021, Scientific data.

Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2017, Neurology: Genetics.

The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.

Daniel Henrion, Guy Lenaers, Patrizia Amati-Bonneau, 2017, Biochimica et biophysica acta. Molecular basis of disease.

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

M. Carbonelli, P. Gohier, P. Yu-Wai-Man, 2021, Brain communications.

High mitochondrial DNA copy number is associated with longer survival in young patients with glioblastoma.

D. Figarella-Branger, C. Bris, V. Desquiret-Dumas, 2019, Neuro-oncology.

Deep sequencing shows that oocytes are not prone to accumulate mtDNA heteroplasmic mutations during ovarian ageing

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2017, Human reproduction.

Cellular allostatic load is linked to increased energy expenditure and accelerated biological aging

Anna S. Monzel, E. Epel, Balaji Santhanam, 2023, Psychoneuroendocrinology.

Highly asymmetrical distribution of muscle wasting correlates to the heteroplasmy in a patient carrying a large-scale mitochondrial DNA deletion: a novel pathophysiological mechanism for explaining asymmetry in mitochondrial myopathies

N. Romero, C. Bris, V. Procaccio, 2022, Neuromuscular Disorders.

First characterization of LHON pedigrees in North Africa

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2020, Eye.

The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.

C. Bris, V. Desquiret-Dumas, D. Bonneau, 2017, Biochimica et biophysica acta. Molecular basis of disease.

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

David L. Bennett, T. Hornemann, S. Züchner, 2023, Brain : a journal of neurology.

Cellular allostatic load is linked to increased energy expenditure and accelerated biological aging

Anna S. Monzel, E. Epel, Balaji Santhanam, 2023, Psychoneuroendocrinology.