M. Cerino

发表

Genetic Characterization of a French Cohort of GNE‐mutation negative inclusion body myopathy patients with exome sequencing

Svetlana Gorokhova, Jean-François Deleuze, Bruno Eymard, 2017, Muscle & nerve.

Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder.

A. Barakat, S. Gorokhova, M. Krahn, 2021, Clinica chimica acta; international journal of clinical chemistry.

Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy

N. Lévy, M. Bartoli, M. Krahn, 2020, Annals of clinical and translational neurology.

Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population

F. Puppo, N. Lévy, J. Bevilacqua, 2022, Genes.

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

I. Nelson, E. Malfatti, N. Romero, 2017, Neurology: Genetics.

High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome.

A. Loundou, P. Morange, A. Blanchard, 2019, Atherosclerosis.

The association between macrovascular complications and intensive care admission, invasive mechanical ventilation, and mortality in people with diabetes hospitalized for coronavirus disease-2019 (COVID-19)

Ho Yee Cheung, James D. Clark, May Thin Khine, 2022, Cardiovascular Diabetology.

The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions

N. Lévy, S. Gorokhova, M. Bartoli, 2021, Frontiers in Cell and Developmental Biology.

A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports

Svetlana Gorokhova, Mark Gorokhov, Mathieu Cerino, 2019, bioRxiv.

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

C. Béroud, J. Desvignes, M. Krahn, 2019, Journal of Human Genetics.

Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy

N. Philip, N. Lévy, M. Bartoli, 2020, Molecular genetics & genomic medicine.

Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients

N. Lévy, S. Gorokhova, M. Bartoli, 2021, Genetics in Medicine.

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing

Christophe Béroud, Svetlana Gorokhova, Mathieu Cerino, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

First characterization of congenital myasthenic syndrome type 5 in North Africa

A. Barakat, S. Gorokhova, M. Krahn, 2021, Molecular Biology Reports.

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy

N. Lévy, A. Béhin, S. Gorokhova, 2015, Journal of neuromuscular diseases.

Novel CAPN3 variant associated with an autosomal dominant calpainopathy

M. Cossée, J. Pouget, N. Lévy, 2020, Neuropathology and applied neurobiology.

A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing

M. Cossée, N. Lévy, P. Latour, 2022, Genes.

Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care

M. Cossée, N. Lévy, J. Rendu, 2022, medRxiv.

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

C. Béroud, J. Desvignes, N. Lévy, 2019, Journal of Human Genetics.

Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.

C. Béroud, F. Magdinier, C. Rooryck, 2019, Circulation. Genomic and precision medicine.

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

J. Melki, M. Cossée, J. Pouget, 2018, European Journal of Human Genetics.

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

C. Béroud, D. Salgado, J. Desvignes, 2015, Applied & translational genomics.

A novel SUPT5H variant associated with a beta‐thalassaemia trait

M. Cerino, C. Badens, N. Bonello-Palot, 2021, British journal of haematology.

Refining NGS diagnosis of muscular disorders

N. Lévy, S. Gorokhova, M. Bartoli, 2020, Journal of Neurology, Neurosurgery, and Psychiatry.