Publications

Unification of miRNA and isomiR research: the mirGFF3 format and the mirtop API

Desvignes T,  Loher P, Eilbeck K,  Ma J,  Urgese G, Fromm B, Sydes J,  Aparicio-Puerta E,  Barrera V,  Espín R, Thibord F,  Bofill-De Ros X, Londin E, Telonis AG, Ficarra E,  Friedländer MR, Postlethwait JH, Rigoutsos I, Hackenberg M, Vlachos IS,  Halushka MK , Pantano L

Bioinformatics, btz675, https://doi.org/10.1093/bioinformatics/btz675.

Genomic and Transcriptomic Association Studies Identify 16 Novel Susceptibility Loci for Venous Thromboembolism..

Lindstrom S, Wang L, Smith EN, Gordon W, van Hylckama Vlieg A, de Andrade M, Brody JA, Pattee JW, Haessler J, Brumpton BM, Chasman DI, Suchon P, Chen MH, Turman C, Germain M, Wiggins KL, MacDonald J, Braekkan SK, Armasu SM, Pankratz N, Jackson RD, Nielsen JB, Giulianini F, Puurunen MK, Ibrahim M, Heckbert SR, Damrauer SM, Natarajan P, Klarin D, de Vries PS, Sabater-Lleal M, Huffman JE, Bammler TK, Frazer KA, McCauley BM, Taylor K, Pankow JS, Reiner AP, Gabrielsen ME, Deleuze JF, O'Donnell CJ, Kim J, McKnight B, Kraft P, Hansen JB, Rosendaal FR, Heit JA, Psaty BM, Tang W, Kooperberg C, Hveem K, Ridker PM, Morange PE, Johnson AD, Kabrhel C, Trégouët DA, Smith NL

Blood. 2019 Aug 16. pii: blood.2019000435. doi: 10.1182/blood.2019000435. [Epub ahead of print] PMID: 31420334

Lindstrom S, Wang L, Smith EN, Gordon W, van Hylckama Vlieg A, de Andrade M, Brody JA, Pattee JW, Haessler J, Brumpton BM, Chasman DI, Suchon P, Chen MH, Turman C, Germain M, Wiggins KL, MacDonald J, Braekkan SK, Armasu SM, Pankratz N, Jackson RD, Nielsen JB, Giulianini F, Puurunen MK, Ibrahim M, Heckbert SR, Damrauer SM, Natarajan P, Klarin D, de Vries PS, Sabater-Lleal M, Huffman JE, Bammler TK, Frazer KA, McCauley BM, Taylor K, Pankow JS, Reiner AP, Gabrielsen ME, Deleuze JF, O'Donnell CJ, Kim J, McKnight B, Kraft P, Hansen JB, Rosendaal FR, Heit JA, Psaty BM, Tang W, Kooperberg C, Hveem K, Ridker PM, Morange PE, Johnson AD, Kabrhel C, Trégouët DA, Smith NL

A Genome Wide Association Study on plasma FV levels identified PLXDC2 as a new modifier of the coagulation process.

Thibord F, Hardy L, Ibrahim-Kosta M, Saut N, Pulcrano-Nicolas AS, Goumidi L, Civelek M, Eriksson P, Deleuze JF, Le Goff W, Trégouët DA, Morange PE.

J Thromb Haemost. 2019 Jul 4. doi: 10.1111/jth.14562.

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].