Publications - Results from #18

Evaluation of six blood-based age prediction models using DNA methylation analysis by pyrosequencing.

Daunay A, Baudrin LG, Deleuze JF, How-Kit A

Sci Rep. 2019 Jun 20;9(1):8862. doi: 10.1038/s41598-019-45197-w.

Both rare and common genetic variants contribute to autism in the Faroe Islands..

Claire S Leblond, Freddy Cliquet, Coralie Carton, Guillaume Huguet, Alexandre Mathieu, Thomas Kergrohen, Julien Buratti, Nathalie Lemière, Laurence Cuisset, Thierry Bienvenu, Anne Boland, Jean-François Deleuze, Tormodur Stora, Rannva Biskupstoe, Jónrit Halling, Guðrið Andorsdóttir, Eva Billstedt, Christopher Gillberg & Thomas Bourgeron.

npj Genomic Medicinevolume 4, Article number: 1 (2019)

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.

Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, Koenekoop R, Laffargue F, McLean R, Gottlob I, Bonneau D, Schordert DF, Munier F, McKibbin M, Prescott K, Pelletier V, Dollfuss H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I.

Hum Mutat. 2019 Mar 2. doi: 10.1002/humu.23735. [Epub ahead of print].

Minor allele of the factor V K858R variant protects from venous thrombosis only in non-carriers of factor V Leiden mutation.

Ibrahim-Kosta M, Suchon P, Couturaud F, Smadja D, Olaso R, Germain M, Saut N, Goumidi L, Derbois C, Thibord F, Debette S, Amouyel P, Deleuze JF, van Doorn P, Castoldi E, Patin E, Alessi MC, Trégouët DA, Morange PE

Sci Rep. 2019 Mar 6;9(1):3750. doi: 10.1038/s41598-019-40172-x

OPTIMIR, a novel algorithm for integrating available genome-wide genotype data into miRNA sequence alignment analysis.

Thibord F, Perret C, Roux M, Suchon P, Germain M, Deleuze JF, Morange PE, Tregouet DA

RNA. 2019 Feb 28. pii: rna.069708.118. doi: 10.1261/rna.069708.118. [Epub ahead of print]

A large-scale exome array analysis of venous thromboembolism

Sara Lindström Jennifer A. Brody Constance Turman Marine Germain Traci M. Bartz Erin N. Smith Ming-Huei Chen Marja Puurunen Daniel Chasman Jeffrey Hassler Nathan Pankratz Saonli Basu Weihua Guan Beata Gyorgy Manal Ibrahim Jean-Philippe Empana Robert Olaso Rebecca Jackson Sigrid K. Brækkan Barbara McKnight Jean-Francois Deleuze Cristopher J. O’Donnell Xavier Jouven Kelly A. Frazer Bruce M. Psaty Kerri L. Wiggins Kent Taylor Alexander P. Reiner Susan R. Heckbert Charles Kooperberg Paul Ridker John-Bjarne Hansen Weihong Tang Andrew D. Johnson Pierre-Emmanuel Morange David A. Trégouët Peter Kraft Nicholas L. Smith Christopher Kabrhel on behalf of the INVENT Consortium

First published: 19 January 2019 https://doi.org/10.1002/gepi.22187.