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Kilan Le Guennec
Researcher at French Institute of Health and Medical Research
Publications - 6
Citations - 321
Kilan Le Guennec is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Exome sequencing & Exon. The author has an hindex of 6, co-authored 6 publications receiving 229 citations. Previous affiliations of Kilan Le Guennec include University of Rouen.
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Journal ArticleDOI
Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls.
Céline Bellenguez,Céline Bellenguez,Céline Bellenguez,Camille Charbonnier,Benjamin Grenier-Boley,Benjamin Grenier-Boley,Benjamin Grenier-Boley,Olivier Quenez,Kilan Le Guennec,Gaël Nicolas,Ganesh Chauhan,David Wallon,Stéphane Rousseau,Anne Claire Richard,Anne Boland,Guillaume Bourque,Hans Markus Munter,Robert Olaso,Vincent Meyer,Adeline Rollin-Sillaire,Florence Pasquier,Luc Letenneur,Richard Redon,Jean-François Dartigues,Christophe Tzourio,Thierry Frebourg,Mark Lathrop,Jean-François Deleuze,Didier Hannequin,Emmanuelle Génin,Philippe Amouyel,Stéphanie Debette,Jean-Charles Lambert,Jean-Charles Lambert,Jean-Charles Lambert,Dominique Campion,Olivier Martinaud,Aline Zarea,Stéphanie Bombois,Marie-Anne Mackowiak,Vincent Deramecourt,A Michon,Isabelle Le Ber,Bruno Dubois,Olivier Godefroy,Frédérique Etcharry-Bouyx,Valérie Chauviré,Ludivine Chamard,Eric Berger,Eloi Magnin,Sophie Auriacombe,François Tison,Vincent de la Sayette,Dominique Castan,Elsa Dionet,François Sellal,Olivier Rouaud,Christel Thauvin,Olivier Moreaud,Mathilde Sauvée,Maïté Formaglio,Hélène Mollion,Isabelle Roullet-Solignac,Alain Vighetto,Bernard Croisile,Mira Didic,Olivier Felician,Lejla Koric,Mathieu Ceccaldi,Audrey Gabelle,Cecilia Marelli,Pierre Labauge,Thérèse Rivasseau Jonveaux,Martine Vercelletto,Claire Boutoleau-Bretonnière,Giovanni Castelnovo,Claire Paquet,Julien Dumurgier,Jacques Hugon,Foucauld De Boisgueheneuc,Serge Belliard,Serge Bakchine,Marie Sarazin,Marie-Odile Barrellon,Bernard Laurent,Frédéric Blanc,Jérémie Pariente,Snejana Jurici +87 more
TL;DR: Despite different effect sizes and varying cumulative minor allele frequencies, the rare protein-truncating and missense-predicted damaging variants in TREM2, SORL1, and ABCA7 contribute similarly to the heritability of EOAD and explain between 1.1% and 1.5% of EAD heritability each.
Journal ArticleDOI
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons
Gaël Nicolas,David Wallon,Camille Charbonnier,Olivier Quenez,Stéphane Rousseau,Anne-Claire Richard,Anne Rovelet-Lecrux,Sophie Coutant,Kilan Le Guennec,Delphine Bacq,Jean-Guillaume Garnier,Robert Olaso,Anne Boland,Vincent Meyer,Jean-François Deleuze,Hans Markus Munter,Guillaume Bourque,Daniel Auld,Alexandre Montpetit,Mark Lathrop,Lucie Guyant-Maréchal,Olivier Martinaud,Jérémie Pariente,Adeline Rollin-Sillaire,Florence Pasquier,Isabelle Le Ber,Marie Sarazin,Bernard Croisile,Claire Boutoleau-Bretonnière,Catherine Thomas-Antérion,Claire Paquet,Mathilde Sauvée,O. Moreaud,Audrey Gabelle,François Sellal,Mathieu Ceccaldi,Ludivine Chamard,Frédéric Blanc,Thierry Frebourg,Dominique Campion,Didier Hannequin +40 more
TL;DR: It is concluded that EOAD patients with family history of LOAD and no incidence of EOAD in the family or patients with sporadic AD starting between 51 and 65 years have a low variant-detection rate in AD genes.
Journal ArticleDOI
ABCA7 rare variants and Alzheimer disease risk.
Kilan Le Guennec,Gaël Nicolas,Olivier Quenez,Camille Charbonnier,D. Wallon,Céline Bellenguez,Benjamin Grenier-Boley,Stéphane Rousseau,Anne-Claire Richard,Anne Rovelet-Lecrux,Delphine Bacq,Jean-Guillaume Garnier,Robert Olaso,Anne Boland,Vincent Meyer,Jean-François Deleuze,Philippe Amouyel,Hans Markus Munter,Guillaume Bourque,Mark Lathrop,Thierry Frebourg,Richard Redon,Luc Letenneur,Jean-François Dartigues,Florence Pasquier,Adeline Rollin-Sillaire,Emmanuelle Génin,Jean-Charles Lambert,Didier Hannequin,Dominique Campion +29 more
TL;DR: It is confirmed that ABCA7 LOF variants are enriched in patients with AD and this finding is extended to predicted damaging missense variants.
Journal ArticleDOI
Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.
Kilan Le Guennec,Sarah Veugelen,Olivier Quenez,Maria Szaruga,Stéphane Rousseau,Gaël Nicolas,David Wallon,Frédérique Fluchère,Thierry Frebourg,Bart De Strooper,Dominique Campion,Lucía Chávez-Gutiérrez,Anne Rovelet-Lecrux +12 more
TL;DR: A novel partial, in-frame deletion of PSEN1 is reported, removing both exons 9 and 10, which does not affect the assembly of a mature protease complex but has an extreme impact on its global endopeptidase activity.
Journal ArticleDOI
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.
Olivier Quenez,Kévin Cassinari,Sophie Coutant,François Lecoquierre,Kilan Le Guennec,Stéphane Rousseau,Anne-Claire Richard,Stéphanie Vasseur,Emilie Bouvignies,Jacqueline Bou,Gwendoline Lienard,Sandrine Manase,Steeve Fourneaux,Nathalie Drouot,Virginie N'Guyen-Viet,Myriam Vezain,Pascal Chambon,Géraldine Joly-Helas,Nathalie Le Meur,Mathieu Castelain,Anne Boland,Jean-François Deleuze,Isabelle Tournier,Françoise Charbonnier,Edwige Kasper,Gaëlle Bougeard,Thierry Frebourg,Pascale Saugier-Veber,Stéphanie Baert-Desurmont,Dominique Campion,Anne Rovelet-Lecrux,Gaël Nicolas +31 more
TL;DR: Overall, switching to an NGS-only approach should be cost-effective as it allows a reduction in overall costs together with likely stable diagnostic yields, and allows the detection of CNVs that were missed by aCGH.