Author

Bernard Bénichou

Observed names: B Benichou, B Bénichou, B. Bénichou, Bernard Benichou, Bénichou , Bernard

Observed institutions: Hôpital Necker-Enfants Malades, Centre National de la Recherche Scientifique, Harvard University, Inserm, Collège de France, Sanofi (France), University Medical Center Utrecht, Centre Hospitalier Universitaire de Nantes, Institut Necker Enfants Malades, Hôpital Lariboisière, Université Paris Descartes

ORCID: 0000-0002-9331-0926

Observed ORCID: 0000-0002-9331-0926

OpenAlex ID: A5073314401

Identification and characterization of a spinal muscular atrophy-determining gene

1995 · Suzie Lefebvre, Lydie Bürglen, et al. · Cell · 3,990

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De Novo and Inherited Deletions of the 5q13 Region in Spinal Muscular Atrophies

1994 · Judith Melki, Suzie Lefebvre, et al. · Science · 323

Class II-antigen-negative patient and mutant B-cell lines represent at least three, and probably four, distinct genetic defects defined by complementation analysis.

1991 · B Bénichou, J L Strominger · Proceedings of the National Academy of Sciences · 120

A retrospective analysis of the potential impact of IgG antibodies to agalsidase β on efficacy during enzyme replacement therapy for Fabry disease

2008 · Bernard Bénichou, Sunita Goyal, et al. · Molecular Genetics and Metabolism · 105

Mapping of X-Linked Myxomatous Valvular Dystrophy to Chromosome Xq28

1998 · Florence Kyndt, Jean-Jacques Schott, et al. · The American Journal of Human Genetics · 101

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Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy.

1994 · B Fournier, J M Saudubray, et al. · Journal of Clinical Investigation · 83

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Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease

2009 · Jean-Claude Lubanda, Ene Anijalg, et al. · Genetics in Medicine · 60

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Liver Expression of a MiniATP7B Gene Results in Long‐Term Restoration of Copper Homeostasis in a Wilson Disease Model in Mice

2019 · Oihana Murillo, Daniel Moreno, et al. · Hepatology · 59

Clinical characteristics of a familial inherited myxomatous valvular dystrophy mapped to Xq28

2000 · Jean-Noël Trochu, Florence Kyndt, et al. · Journal of the American College of Cardiology · 55

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Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial

2015 · Frits A. Wijburg, Bernard Bénichou, et al. · PLoS ONE · 51

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Effective clearance of GL‐3 in a human iPSC‐derived cardiomyocyte model of Fabry disease

2014 · Jean‐Michel Itier, Gwénaëlle Ret, et al. · Journal of Inherited Metabolic Disease · 51

Gene therapy for progressive familial intrahepatic cholestasis type 3 in a clinically relevant mouse model

2019 · Nicholas D. Weber, Leticia Odriozola, et al. · Nature Communications · 50

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Optimising the IgG‐degrading enzyme treatment regimen for enhanced adeno‐associated virus transduction in the presence of neutralising antibodies

2022 · Irene Ros‐Gañán, Mirja Hommel, et al. · Clinical & Translational Immunology · 37

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Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial

2019 · Uma Ramaswami, Daniel G. Bichet, et al. · Molecular Genetics and Metabolism · 30

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Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy

2023 · Emmanuel Gonzales, Antoine Gardin, et al. · JHEP Reports · 25

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High value of 64Cu as a tool to evaluate the restoration of physiological copper excretion after gene therapy in Wilson’s disease

2022 · Oihana Murillo, Maria Collantes, et al. · Molecular Therapy — Methods & Clinical Development · 24

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Further Evidence for Genetic Heterogeneity Within Type II Autosomal Dominant Osteopetrosis

2000 · O. D. Bénichou, B. Bénichou, et al. · Journal of Bone and Mineral Research · 23

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Mutations in the D strand of the human CD4 V1 domain affect CD4 interactions with the human immunodeficiency virus envelope glycoprotein gp120 and HLA class II antigens similarly.

1991 · D Piatier-Tonneau, L N Gastinel, et al. · Proceedings of the National Academy of Sciences · 23

Study on Possible Increase in Twinning Rate at a Small Village in South Brazil

1996 · U. Matte, M. G. Le Roux, et al. · Acta geneticae medicae et gemellologiae · 22

Epidemiology, treatment and burden of Wilson disease in France: A 10-year analysis of the national health insurance database

2022 · Thomas Daniel-Robin, Bernard Bénichou, et al. · Clinics and Research in Hepatology and Gastroenterology · 17

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Osteopetrosis as a model for studying bone resorption.

1998 · O D Bénichou, B Bénichou, et al. · PubMed · 9

Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice

2022 · Andrea Bazo, Aquilino Lantero, et al. · International Journal of Molecular Sciences · 6

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Characteristics of patients with Wilson disease in the United States: An insurance claims database study

2024 · Thomas Daniel-Robin, Pradeep Kumar, et al. · World Journal of Hepatology · 4

Letter to the Editor

1998 · M T Andre, S Jacquemont, et al. · Digestive Diseases and Sciences · 3

Possible misdiagnosis of factor VIII gene inversion in a case of severe hemophilia A [letter]

1996 · B Benichou, O Herbert, et al. · Blood · 3

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Works count: 46

Citation count: 5,282

H-index: 19

I10-index: 20