J. Rendu

F. Rivier, M. Cossée, J. Rendu, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients

L. Mesrob, B. Banwell, E. Malfatti, 2017, Neuromuscular Disorders.

S. Coppens, L. Servais, N. Romero, 2022, Acta neuropathologica communications.

Phospholipase A2 Receptor-Related Membranous Nephropathy and Mannan-Binding Lectin Deficiency.

J. Rendu, J. Fauré, H. Debiec, 2016, Journal of the American Society of Nephrology : JASN.

Added Value of Next-Generation Sequencing for Multilocus Sequence Typing Analysis of a Pneumocystis jirovecii Pneumonia Outbreak

M. Mallaret, S. Bailly, J. Rendu, 2017, Emerging infectious diseases.

Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants – identification of 11 novel mutations in CYBB

G. Catho, J. Rendu, Y. Bertrand, 2020, Clinical and experimental immunology.

Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene.

J. Rendu, N. Monnier, J. Lunardi, 2010, Clinical biochemistry.

Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity

C. Béroud, R. Carlier, J. Rendu, 2018, European Radiology.

Congenital Nemaline Myopathy with Dense Protein Masses.

E. Malfatti, N. Romero, J. Rendu, 2022, Journal of neuropathology and experimental neurology.

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.

E. Malfatti, C. Ottenheijm, C. Bönnemann, 2020, American journal of human genetics.

Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations

P. Jouk, J. Rendu, J. Fauré, 2021, Journal of Medical Genetics.

Rapid Proteomic Profiling by MALDI‐TOF Mass Spectrometry for Better Brain Tumor Classification

J. Rendu, P. Ray, C. Coutton, 2020, Proteomics. Clinical applications.

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

G. Ravenscroft, B. Ilkovski, C. Ottenheijm, 2015, Human molecular genetics.

Muscle weakness in TPM 3-myopathy is due to reduced Ca 2 +-sensitivity and impaired acto-myosin cross-bridge cycling in slow fi bres

G. Ravenscroft, B. Ilkovski, C. Ottenheijm, 2015 .

Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.

N. Thierry-Mieg, D. Grunwald, P. Jouk, 2014, American journal of human genetics.

Grouped Cases of Pulmonary Pneumocystosis After Solid Organ Transplantation: Advantages of Coordination by an Infectious Diseases Unit for Overall Management and Epidemiological Monitoring

M. Mallaret, J. Rendu, D. Maubon, 2016, Infection Control & Hospital Epidemiology.

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features

J. Clayton-Smith, P. Jouk, J. Thevenon, 2016, Genetics in Medicine.

Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein

K. Mamchaoui, V. Mouly, J. Rendu, 2015, Journal of neuromuscular diseases.

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

F. Muntoni, L. Servais, Glyn Williams, 2018, Human mutation.

Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq

J. Rendu, J. Fauré, W. Hayajneh, 2021, Frontiers in Immunology.

Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract

J. Rendu, J. Fauré, A. Couture, 2022, Heliyon.

Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management

G. Danieli, L. Faivre, J. Rendu, 2011, Human mutation.

Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

F. Rivier, C. Béroud, E. Malfatti, 2021, Journal of Neurology.

Ornithine Transcarbamylase – From Structure to Metabolism: An Update

M. Couchet, C. Breuillard, C. Corne, 2021, Frontiers in Physiology.

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

M. Cossée, B. Cogné, J. Rendu, 2023, Human Genomics.

Familial deep cavitating state with a glutathione metabolism defect

C. Corne, J. Rendu, J. Fauré, 2019, Annals of Clinical and Translational Neurology.

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.

Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome

C. Elie, R. Salomon, D. Baruch, 2021, British journal of haematology.

Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects

M. Schuelke, W. Stenzel, J. Rendu, 2016, Acta Neuropathologica.

Deletion of the microtubule-associated protein 6 (MAP6) results in skeletal muscle dysfunction

S. Boncompagni, J. Rendu, J. Fauré, 2018, Skeletal Muscle.

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

E. Malfatti, N. Romero, J. Rendu, 2019, Acta neuropathologica communications.

Variations in the TRPV1 gene are associated to exertional heat stroke.

D. Figarella-Branger, J. Rendu, S. Ducreux, 2020, Journal of science and medicine in sport.

P.479 Morphological spectrum of RYR1 recessive myopathies: Clinical and genetic correlation.

N. Romero, J. Rendu, J. Bevilacqua, 2017, Neuromuscular Disorders.

Role of triadin in the organization of reticulum membrane at the muscle triad

J. Rendu, J. Fauré, A. Fourest-Lieuvin, 2012, Journal of Cell Science.

Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis

D. Nickerson, M. Bamshad, K. Buckingham, 2020, bioRxiv.

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.

190‐kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly

P. Jouk, J. Rendu, C. Coutton, 2013, Clinical genetics.

Deletion of the microtubule-associated protein 6 (MAP6) results in skeletal muscle dysfunction

S. Boncompagni, J. Rendu, J. Fauré, 2018, Skeletal Muscle.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

E. Zackai, J. Lupski, T. Strom, 2023, Brain : a journal of neurology.

Gene therapies for RyR1-related myopathies.

J. Rendu, J. Fauré, I. Marty, 2022, Current opinion in pharmacology.

7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot

P. Jouk, J. Rendu, J. Fauré, 2014, American journal of medical genetics. Part A.

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

N. Romero, B. Gilbert-Dussardier, L. García, 2013, Human gene therapy.

The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.

B. Buendia, J. Rendu, O. Dubourg, 2016, Human molecular genetics.

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features

J. Clayton-Smith, P. Jouk, J. Thevenon, 2016, Genetics in Medicine.

From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

R. Salomon, J. Rendu, B. Ranchin, 2011, Human mutation.