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F. Rivier · SciRah

Researcher profile · Semantic Scholar

F. Rivier

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F. Rivier — researcher profile on SciRah

h-index: 43
Works: 179
Citations: 6,222

Most-cited papers

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
C. Leblond, C. Nava, A. Polge, J. Gauthier +56 more
2014PLoS Genetics579 citations Open access
Semantic Scholar
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans
J. Collier, C. Guissart, M. Oláhová, S. Sasorith +29 more
2021New England Journal of Medicine146 citations Open access
Semantic Scholar
Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials.
V. Humbertclaude, D. Hamroun, K. Bezzou, C. Bérard +28 more
2012European journal of paediatric neurology139 citations
Semantic Scholar
Natural history of Barth syndrome: a national cohort study of 22 patients
C. Rigaud, A. Lèbre, R. Touraine, B. Beaupain +16 more
2013Orphanet Journal of Rare Diseases125 citations Open access
Semantic Scholar
Immune deficiencies , infection , and systemic immune disorders Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype
R. Micol, L. Ben Slama, F. Suarez, L. Mignot +27 more
2011103 citations
Semantic Scholar
Autism and developmental disability caused by KCNQ3 gain‐of‐function variants
T. Sands, F. Miceli, G. Lesca, A. Beck +31 more
2019Annals of Neurology96 citations Open access
Semantic Scholar
Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial.
E. Bertini, E. Dessaud, E. Mercuri, F. Muntoni +35 more
2017Lancet Neurology89 citations Open access
Semantic Scholar
Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort.
G. Blanchard, M. Lafforgue, L. Lion-François, I. Kemlin +7 more
2016European journal of paediatric neurology83 citations Open access
Semantic Scholar
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
M. Krieger, A. Roos, C. Stendel, K. Claeys +30 more
2013Brain : a journal of neurology83 citations Open access
Semantic Scholar
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease
G. Rice, Naoki Kitabayashi, M. Barth, T. Briggs +48 more
2017Neuropediatrics82 citations Open access
Semantic Scholar
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
C. Guissart, X. Latypova, Paul Rollier, Tahir N. Khan +55 more
2018American Journal of Human Genetics73 citations Open access
Semantic Scholar
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
E. Lagrue, C. Dogan, M. de Antonio, F. Audic +34 more
2019Neurology59 citations
Semantic Scholar
The 2020 version of the gene table of neuromuscular disorders (nuclear genome).
L. Benarroch, G. Bonne, F. Rivier, D. Hamroun
2019Neuromuscular Disorders59 citations Open access
Semantic Scholar
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
I. Ditters, H. Huidekoper, M. Kruijshaar, D. Rizopoulos +41 more
2021The Lancet Child & Adolescent Health58 citations Open access
Semantic Scholar
Benign paroxysmal vertigo of childhood: Long-term outcome
Benjamin Krams, B. Echenne, J. Leydet, F. Rivier +1 more
2011Cephalalgia54 citations
Semantic Scholar
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements
L. Allou, L. Lambert, D. Amsallem, E. Bieth +13 more
2012European Journal of Human Genetics53 citations Open access
Semantic Scholar
Speckle‐Tracking Echocardiography in Children With Duchenne Muscular Dystrophy: A Prospective Multicenter Controlled Cross‐Sectional Study
P. Amedro, M. Vincenti, G. De La Villeon, K. Lavastre +12 more
2019Journal of the American Society of Echocardiography52 citations Open access
Semantic Scholar
The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome).
G. Bonne, F. Rivier, D. Hamroun
2017Neuromuscular Disorders52 citations Open access
Semantic Scholar
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.
C. Angebault, M. Charif, N. Guegen, Camille Piro-Mégy +10 more
2015Human Molecular Genetics51 citations Open access
Semantic Scholar
Outcome of isolated agenesis of the corpus callosum: A population-based prospective study.
Vincent Des Portes, A. Rolland, J. Velazquez-Dominguez, E. Peyric +11 more
2018European journal of paediatric neurology50 citations Open access
Semantic Scholar
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability
F. T. Mau-Them, M. Willems, B. Albrecht, E. Sanchez +16 more
2013European Journal of Human Genetics49 citations Open access
Semantic Scholar
The 2021 version of the gene table of neuromuscular disorders (nuclear genome).
L. Benarroch, G. Bonne, F. Rivier, D. Hamroun
2020Neuromuscular Disorders48 citations Open access
Semantic Scholar
Role of neuroimaging in the diagnosis of hereditary cerebellar ataxias in childhood.
G. Perucca, N. Leboucq, A. Roubertie, F. Rivier +3 more
2016Journal of neuroradiology. Journal de neuroradiologie47 citations
Semantic Scholar
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis
K. Habbout, Hugo Poulin, F. Rivier, S. Giuliano +11 more
2016Neurology47 citations Open access
Semantic Scholar
The 2022 version of the gene table of neuromuscular disorders (nuclear genome).
Enzo Cohen, G. Bonne, F. Rivier, D. Hamroun
2021Neuromuscular Disorders44 citations Open access
Semantic Scholar
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.
R. Porcher, I. Desguerre, H. Amthor, B. Chabrol +42 more
2021European Heart Journal44 citations Open access
Semantic Scholar
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms
D. Cheillan, M. J. Curt, G. Briand, G. Salomons +27 more
2012Orphanet Journal of Rare Diseases43 citations Open access
Semantic Scholar
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.
R. Zenagui, D. Lacourt, H. Pégeot, K. Yauy +19 more
2018Journal of Molecular Diagnostics37 citations Open access
Semantic Scholar
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia
N. Chassaing, N. Ragge, J. Plaisancié, O. Patat +6 more
2016American Journal of Medical Genetics. Part A37 citations Open access
Semantic Scholar
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
Julia Lauer Zillhardt, K. Poirier, Loïc Broix, N. Lebrun +32 more
2015European Journal of Human Genetics37 citations Open access
Semantic Scholar
Creatine and guanidinoacetate reference values in a French population.
Marie Joncquel-Chevalier Curt, D. Cheillan, G. Briand, G. Salomons +27 more
2013Molecular Genetics and Metabolism37 citations
Semantic Scholar
The 2019 version of the gene table of neuromuscular disorders (nuclear genome).
G. Bonne, F. Rivier, D. Hamroun
2018Neuromuscular Disorders36 citations
Semantic Scholar
Delineating FOXG1 syndrome
N. Vegas, M. Cavallin, Camille Maillard, N. Boddaert +35 more
2018Neurology: Genetics35 citations Open access
Semantic Scholar
Sporadic and Familial Variants in NF1: An Explanation of the Wide Variability in Neurocognitive Phenotype?
Maëlle Biotteau, S. Déjean, S. Lelong, Stéphanie Iannuzzi +6 more
2020Frontiers in Neurology33 citations Open access
Semantic Scholar
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
M. Benkirane, C. Marelli, C. Guissart, A. Roubertie +81 more
2021Genetics in Medicine32 citations Open access
Semantic Scholar
Deficit in phonological processes: a characteristic of the neuropsychological profile of children with NF1
Y. Chaix, V. Lauwers-Cancès, Nathalie Faure-Marie, Catherine Gentil +12 more
2018Child Neuropsychology: A Journal of Normal and Abnormal Development in Childhood and Adolescence31 citations
Semantic Scholar
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene
A. Ishmukhametova, P. K. Van Kien, D. Méchin, D. Thorel +6 more
2012European Journal of Human Genetics30 citations Open access
Semantic Scholar
E2F transcription factor-1 deficiency reduces pathophysiology in the mouse model of Duchenne muscular dystrophy through increased muscle oxidative metabolism
Emilie Blanchet, J. Annicotte, Ludivine A. Pradelli, G. Hugon +4 more
2012Human Molecular Genetics30 citations Open access
Semantic Scholar
Lack of progressive arteriopathy and stroke recurrence among children with cryptogenic stroke
S. Darteyre, S. Chabrier, E. Presles, A. Bonafe +4 more
2012Neurology28 citations
Semantic Scholar
Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports
M. Hully, C. Barnerias, D. Chabalier, Sophie Le Guen +22 more
2020Frontiers in Pediatrics24 citations Open access
Semantic Scholar
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56
C. Durand, Laura Dhers, C. Tesson, A. Tessa +20 more
2018Human Mutation24 citations Open access
Semantic Scholar
A missense mutation within the fork‐head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization
T. le Guen, Y. Fichou, J. Nectoux, N. Bahi-buisson +6 more
2011Human Mutation22 citations Open access
Semantic Scholar
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies.
A. Perrin, Raúl Juntas Morales, F. Rivier, C. Cancés +14 more
2020Neuromuscular Disorders20 citations Open access
Semantic Scholar
AP4 deficiency
A. Roubertie, N. Hieu, Charles-Joris Roux, N. Leboucq +12 more
2018Neurology: Genetics20 citations Open access
Semantic Scholar
Long‐term outcomes of paediatric Guillain–Barré syndrome
Bastien Estublier, H. Colineaux, C. Arnaud, P. Cintas +6 more
2023Developmental Medicine & Child Neurology17 citations Open access
Semantic Scholar
Prevalence and timing of pregnancy termination for brain malformations
C. Rouleau, A. Gasner, N. Bigi, A. Couture +7 more
2011Archives of Disease in Childhood: Fetal and Neonatal Edition17 citations
Semantic Scholar
Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study
M. Tardieu, C. Cudejko, A. Cano, C. Hoebeke +31 more
2023European Journal of Neurology15 citations Open access
Semantic Scholar
Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients
P. Meyer, C. Notarnicola, A. Meli, S. Matecki +13 more
2021International Journal of Molecular Sciences15 citations Open access
Semantic Scholar
Prognostic value of contrast-enhanced MRI in Guillain-Barré syndrome in children.
F. Althubaiti, C. Guiomard, F. Rivier, P. Meyer +1 more
2022Archives de pédiatrie14 citations Open access
Semantic Scholar
Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group
C. Lemattre, M. Imbert-Bouteille, V. Gatinois, P. Bénit +19 more
2019European Journal of Human Genetics14 citations Open access
Semantic Scholar

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