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Guy Montantin · SciRah

Researcher profile · Semantic Scholar

Guy Montantin

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Guy Montantin — researcher profile on SciRah

h-index: 12
Works: 17
Citations: 1,461

Most-cited papers

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
A. Merveille, E. Davis, A. Becker-Heck, M. Legendre +40 more
2010Nature Genetics342 citations Open access
Semantic Scholar
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
Esther Kott, P. Duquesnoy, Bruno Copin, M. Legendre +15 more
2012American Journal of Human Genetics176 citations Open access
Semantic Scholar
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
Esther Kott, M. Legendre, Bruno Copin, J. Papon +26 more
2013American Journal of Human Genetics165 citations Open access
Semantic Scholar
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
M. Whitfield, Lucie Thomas, E. Bequignon, A. Schmitt +17 more
2019American Journal of Human Genetics164 citations Open access
Semantic Scholar
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.
P. Duquesnoy, E. Escudier, Laetitia Vincensini, Judy Freshour +14 more
2009American Journal of Human Genetics153 citations Open access
Semantic Scholar
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
Elma El Khouri, Lucie Thomas, L. Jeanson, E. Bequignon +22 more
2016American Journal of Human Genetics95 citations Open access
Semantic Scholar
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
S. Blanchon, M. Legendre, Bruno Copin, P. Duquesnoy +23 more
2012Journal of Medical Genetics95 citations Open access
Semantic Scholar
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
L. Jeanson, Bruno Copin, J. Papon, Florence Dastot le Moal +17 more
2015American Journal of Human Genetics88 citations Open access
Semantic Scholar
Mutations in GAS8, a Gene Encoding a Nexin‐Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization
L. Jeanson, Lucie Thomas, Bruno Copin, A. Coste +12 more
2016Human Mutation59 citations Open access
Semantic Scholar
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
Lucie Thomas, K. Bouhouche, M. Whitfield, G. Thouvenin +29 more
2020American Journal of Human Genetics50 citations Open access
Semantic Scholar
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia
S. Blanchon, M. Legendre, M. Bottier, A. Tamalet +12 more
2019Journal of Medical Genetics31 citations Open access
Semantic Scholar
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele
Rahma Mani, S. Belkacem, Z. Soua, S. Chantot +20 more
2020Human Mutation27 citations Open access
Semantic Scholar
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients
I. Mabrouk, Nawal Alharthi, Rahma Mani, Guy Montantin +19 more
2022Journal of Human Genetics9 citations
Semantic Scholar
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia
Lucie Thomas, L. Cuisset, J. Papon, A. Tamalet +18 more
2024Journal of Medical Genetics6 citations
Semantic Scholar
FOXJ1 transcriptional targets in human airway cells and impaired multiciliogenesis in FOXJ1-associated primary ciliary dyskinesia.
Lucie Thomas, Jacques Serizay, Rahma Mani, S. Couvet +21 more
2026American Journal of Respiratory Cell and Molecular Biology0 citations Open access
Semantic Scholar
Objective videomicroscopy parameters correlate ciliary beating to ultrastructure in primary ciliary dyskinesia
S. Blanchon, M. Legendre, M. Bottier, A. Tamalet +6 more
20160 citations
Semantic Scholar
Genotype-phenotype correlations in patients with primary ciliary dyskinesia with central complex defects related to RSPH1 , RSPH4A or RSPH9 mutations
Blandine Prevost, N. Nathan, A. Tamalet, S. Blanchon +23 more
2014European Respiratory Journal0 citations
Semantic Scholar

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M. Legendre×17
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M. Legendre — researcher profile on SciRah
E. Escudier×15
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E. Escudier — researcher profile on SciRah
J. Papon×13
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J. Papon — researcher profile on SciRah
S. Amselem×13
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P. Duquesnoy — researcher profile on SciRah

Bruno Copin×12

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Bruno Copin — researcher profile on SciRah

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L. Jeanson — researcher profile on SciRah

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