Get started
Author

Bruno Copin

Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation
2016 · Seth L. Masters, Vasiliki Lagou, et al. · Science Translational Medicine · 327
Recurrent Mutations in a Single Exon Encoding the Evolutionarily Conserved Olfactomedin-Homology Domain of TIGR in Familial Open-Angle Glaucoma
1997 · M. F. Adam, A. Belmouden, et al. · Human Molecular Genetics · 283
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia
2019 · Marjorie Whitfield, Lucie Thomas, et al. · The American Journal of Human Genetics · 206
PDF
Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia
2012 · Esther Kott, Philippe Duquesnoy, et al. · The American Journal of Human Genetics · 187
PDF
Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects
2013 · Esther Kott, Marie Legendre, et al. · The American Journal of Human Genetics · 179
PDF
Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer
2016 · Nadia Nathan, Violaine Giraud, et al. · Human Molecular Genetics · 161
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
2017 · Chiara Olcese, Mitali P. Patel, et al. · Nature Communications · 151
PDF
Apolipoprotein E–Promoter Single-Nucleotide Polymorphisms Affect the Phenotype of Primary Open-Angle Glaucoma and Demonstrate Interaction with the Myocilin Gene
2002 · Bruno Copin, Antoine P. Brézin, et al. · The American Journal of Human Genetics · 138
Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility
2016 · Elma El Khouri, Lucie Thomas, et al. · The American Journal of Human Genetics · 108
PDF
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes
2015 · Ludovic Jeanson, Bruno Copin, et al. · The American Journal of Human Genetics · 105
PDF
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
2012 · Sylvain Blanchon, Marie Legendre, et al. · Journal of Medical Genetics · 100
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
2012 · M Legendre, S Blanchon, et al. · Cilia · 79
PDF
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella
2020 · Lucie Thomas, Khaled Bouhouche, et al. · The American Journal of Human Genetics · 72
PDF
NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations
2019 · Camille Louvrier, Eman Assrawi, et al. · Journal of Allergy and Clinical Immunology · 67
PDF
Mutations inGAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization
2016 · Ludovic Jeanson, Lucie Thomas, et al. · Human Mutation · 67
PDF
Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer
2020 · Marie Legendre, Afifaa Butt, et al. · European Respiratory Journal · 54
PDF
Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open‐angle glaucoma
2001 · E Colomb, TD Nguyen, et al. · Clinical Genetics · 54
PDF
Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France
1998 · Antoine P. Br�zin, Marie F. Adam, et al. · American Journal of Medical Genetics · 51
Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD
2015 · Marie-Laure Sobrier, Yu-Cheng Tsai, et al. · Human Molecular Genetics · 47
PDF
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia
2019 · Sylvain Blanchon, Marie Legendre, et al. · Journal of Medical Genetics · 43
PDF
Brief Report: Involvement of TNFRSF11A Molecular Defects in Autoinflammatory Disorders
2014 · Isabelle Jéru, Emmanuelle Cochet, et al. · Arthritis & Rheumatology · 36
Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria
2019 · Eman Assrawi, Camille Louvrier, et al. · Journal of Investigative Dermatology · 32
PDF
Symptomatic Heterozygotes and Prenatal Diagnoses in a Nonconsanguineous Family with Syndromic Combined Pituitary Hormone Deficiency Resulting from Two NovelLHX3Mutations
2012 · Marie-Laure Sobrier, Cécile Brachet, et al. · The Journal of Clinical Endocrinology & Metabolism · 30
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients
2016 · Enzo Cohen, Mohamad Maghnie, et al. · The Journal of Clinical Endocrinology & Metabolism · 29
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele
2019 · Rahma Mani, Sabrina Belkacem, et al. · Human Mutation · 24
PDF
Works count: 68
Citation count: 2,746
H-index: 24
I10-index: 29
Year
Topic
Type