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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.

Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples.

Bonnet E, Moutet ML, Baulard C, Bacq-Daian D, Sandron F, Mesrob L, Fin B, Delépine M, Palomares MA, Jubin C, Blanché H, Meyer V, Boland A, Olaso R, Deleuze JF.

PLoS One. 2018 Apr 5;13(4):e0195471. doi: 10.1371/journal.pone.0195471. eCollection 2018

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