Publications by authors named "Marc Delepine"

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Interlaboratory evaluation of high molecular weight DNA extraction methods for long-read sequencing and structural variant analysis.
Alison S Devonshire, Jordi Morata, Claire Jubin, Rui Pedro Abreu Pereira, Laura Hernandez-Hernandez, Marc Delepine

BMC Genomics· July 2025

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Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.
Cristina Rodilla, Gonzalo Núñez-Moreno, Yolanda Benitez, Marta Rodríguez de Alba, Fiona Blanco-Kelly, Marc Delepine

Int J Mol Sci· April 2025

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A detailed analysis of second and third-generation sequencing approaches for accurate length determination of short tandem repeats and homopolymers.
Sophie I Jeanjean, Yimin Shen, Lise M Hardy, Antoine Daunay, Marc Delépine

Nucleic Acids Res· February 2025

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Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.
Alejandra Damián, Gonzalo Núñez-Moreno, Claire Jubin, Alejandra Tamayo, Marta Rodríguez de Alba

Hum Genomics· June 2023

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Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Virginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, Paul Kuentz, Marie-Hélène Aubriot-Lorton, Marc Delepine

Genet Med· August 2021

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Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Virginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, Paul Kuentz, Marie-Hélène Aubriot-Lorton, Marc Delepine

Genet Med· August 2021

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Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.
Kévin Uguen, Claire Jubin, Yannis Duffourd, Claire Bardel, Valérie Malan, Marc Delepine

Mol Genet Genomic Med· March 2020

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Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples.
Eric Bonnet, Marie-Laure Moutet, Céline Baulard, Delphine Bacq-Daian, Florian Sandron

PLoS One· July 2018

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Variations of SOST mRNA expression in human bone are associated with DNA polymorphism and DNA methylation in the SOST gene.
Leila Lhaneche, Jannie D Hald, Aline Domingues, Didier Hannouche, Marc Delepine

Bone· November 2016

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Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency.
Laurence Salle-Teyssières, Martine Auclair, Faraj Terro, Mona Nemani, Solaf M Elsayed

J Clin Endocrinol Metab· July 2016

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Deep sequencing of the Trypanosoma cruzi GP63 surface proteases reveals diversity and diversifying selection among chronic and congenital Chagas disease patients.
Martin S Llewellyn, Louisa A Messenger, Alejandro O Luquetti, Lineth Garcia, Faustino Torrico, Marc Delepine

PLoS Negl Trop Dis· April 2015

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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
Claire S Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Marc Delepine

PLoS Genet· September 2014

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AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
Pierre Cacciagli, Jean-Pierre Desvignes, Nadine Girard, Marc Delepine, Diana Zelenika

Eur J Hum Genet· March 2014

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Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.
Pierre Cacciagli, Julie Sutera-Sardo, Ana Borges-Correia, Jean-Christophe Roux, Imen Dorboz, Marc Delepine

Am J Hum Genet· September 2013

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Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Claire S Leblond, Jutta Heinrich, Richard Delorme, Christian Proepper, Catalina Betancur, Marc Delepine

PLoS Genet· February 2012

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The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study.
Jean-Charles Lambert, Kristel Sleegers, Antonio González-Pérez, Martin Ingelsson, Gary W Beecham, Marc Delepine

J Alzheimers Dis· August 2011

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Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
Paul Hollingworth, Denise Harold, Rebecca Sims, Amy Gerrish, Jean-Charles Lambert, Marc Delepine

Nat Genet· May 2011

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Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Crystel Bonnet, M'hamed Grati, Sandrine Marlin, Jacqueline Levilliers, Jean-Pierre Hardelin

Orphanet J Rare Dis· May 2011

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Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations.
Jean-Charles Lambert, Diana Zelenika, Mikko Hiltunen, Vincent Chouraki, Onofre Combarros, Marc Delepine

Neurobiol Aging· April 2011

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A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.
James D McKay, Therese Truong, Valerie Gaborieau, Amelie Chabrier, Shu-Chun Chuang, Marc Delepine

PLoS Genet· March 2011

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Perilipin deficiency and autosomal dominant partial lipodystrophy.
Sheetal Gandotra, Caroline Le Dour, William Bottomley, Pascale Cervera, Philippe Giral

N Engl J Med· February 2011

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Systematic analysis of candidate genes for Alzheimer's disease in a French, genome-wide association study.
Geoffroy Laumet, Vincent Chouraki, Benjamin Grenier-Boley, Vanessa Legry, Simon Heath, Marc Delepine

J Alzheimers Dis· October 2010

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Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.
Patrice Roll, Damien Sanlaville, Jennifer Cillario, Audrey Labalme, Nadine Bruneau

PLoS One· October 2010

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WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon.
Pierre A Zalloua, Sami T Azar, Marc Delépine, Nadine J Makhoul, Hervé Blanc

Hum Mol Genet· December 2008

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Lung cancer susceptibility locus at 5p15.33.
James D McKay, Rayjean J Hung, Valerie Gaborieau, Paolo Boffetta, Amelie Chabrier, Marc Delepine

Nat Genet· December 2008

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