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Guy Montantin

Observed names: G Montantin, G. Montantin, Montantin, Guy
Observed institutions: Inserm, Sorbonne Université, Hôpital Armand-Trousseau, Assistance Publique – Hôpitaux de Paris, Maladies génétiques d’expression pédiatrique, Université Pierre-et-Marie-Curie
ORCID: 0000-0003-1886-4133
Observed ORCID: 0000-0003-1886-4133
OpenAlex ID: A5031853048
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
2010 · Anne-Christine Merveille, Erica E Davis, et al. · Nature Genetics · 360
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
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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
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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
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Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia
2009 · Philippe Duquesnoy, Estelle Escudier, et al. · The American Journal of Human Genetics · 162
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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
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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
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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
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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
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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
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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
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Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele
2019 · Rahma Mani, Sabrina Belkacem, et al. · Human Mutation · 24
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Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients
2022 · Imed Mabrouk, Nawal Al-Harthi, et al. · Journal of Human Genetics · 9
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia
2024 · Lucie Thomas, Laurence Cuisset, et al. · Journal of Medical Genetics · 7
FOXJ1 transcriptional targets in human airway cells and impaired multiciliogenesis in FOXJ1 -associated primary ciliary dyskinesia
2026 · Lucie Thomas, Jacques Serizay, et al. · American Journal of Respiratory Cell and Molecular Biology · 1
Objective videomicroscopy parameters correlate ciliary beating to ultrastructure in primary ciliary dyskinesia
2016 · Sylvain Blanchon, Marie Legendre, et al. · European Respiratory Journal · 1
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia
2024 · Thomas, Lucie, Cuisset, Laurence, et al. · HAL
L’analyse quantitative du mouvement ciliaire permet d’identifier le phénotype ultra-structural des dyskinésies ciliaires primitives
2017 · S. Blanchon, M. Legendre, et al. · Revue des Maladies Respiratoires
Genotype-phenotype correlations in patients with primary ciliary dyskinesia with central complex defects related to RSPH1, RSPH4A or RSPH9 mutations
2014 · Blandine Prévost, Nadia Nathan, et al. · European Respiratory Journal
Genotype-phenotype correlations in patients with primary ciliary dyskinesia with central complex defects related to RSPH1 , RSPH4A or RSPH9 mutations
2014 · Blandine Prévost, Nadia Nathan, et al. · European Respiratory Journal
Works count: 25
Citation count: 1,710
H-index: 13
I10-index: 13
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