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Items: 11

1.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM; Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT.

Am J Hum Genet. 2018 Mar 1;102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020. Epub 2018 Feb 22.

2.

Long-read genome sequencing identifies causal structural variation in a Mendelian disease.

Merker JD, Wenger AM, Sneddon T, Grove M, Zappala Z, Fresard L, Waggott D, Utiramerur S, Hou Y, Smith KS, Montgomery SB, Wheeler M, Buchan JG, Lambert CC, Eng KS, Hickey L, Korlach J, Ford J, Ashley EA.

Genet Med. 2018 Jan;20(1):159-163. doi: 10.1038/gim.2017.86. Epub 2017 Jun 22.

3.

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.

Kernohan KD, Frésard L, Zappala Z, Hartley T, Smith KS, Wagner J, Xu H, McBride A, Bourque PR, Consortium CRC, Bennett SAL, Dyment DA, Boycott KM, Montgomery SB, Warman Chardon J.

Hum Mutat. 2017 Jun;38(6):611-614. doi: 10.1002/humu.23211. Epub 2017 Mar 28.

4.

Directed evolution using dCas9-targeted somatic hypermutation in mammalian cells.

Hess GT, Frésard L, Han K, Lee CH, Li A, Cimprich KA, Montgomery SB, Bassik MC.

Nat Methods. 2016 Dec;13(12):1036-1042. doi: 10.1038/nmeth.4038. Epub 2016 Oct 31.

5.

An Efficient Multiple-Testing Adjustment for eQTL Studies that Accounts for Linkage Disequilibrium between Variants.

Davis JR, Fresard L, Knowles DA, Pala M, Bustamante CD, Battle A, Montgomery SB.

Am J Hum Genet. 2016 Jan 7;98(1):216-24. doi: 10.1016/j.ajhg.2015.11.021. Epub 2015 Dec 31.

6.

The Extent of mRNA Editing Is Limited in Chicken Liver and Adipose, but Impacted by Tissular Context, Genotype, Age, and Feeding as Exemplified with a Conserved Edited Site in COG3.

Roux PF, Frésard L, Boutin M, Leroux S, Klopp C, Djari A, Esquerré D, Martin PG, Zerjal T, Gourichon D, Pitel F, Lagarrigue S.

G3 (Bethesda). 2015 Dec 4;6(2):321-35. doi: 10.1534/g3.115.022251.

7.

Third Report on Chicken Genes and Chromosomes 2015.

Schmid M, Smith J, Burt DW, Aken BL, Antin PB, Archibald AL, Ashwell C, Blackshear PJ, Boschiero C, Brown CT, Burgess SC, Cheng HH, Chow W, Coble DJ, Cooksey A, Crooijmans RP, Damas J, Davis RV, de Koning DJ, Delany ME, Derrien T, Desta TT, Dunn IC, Dunn M, Ellegren H, Eöry L, Erb I, Farré M, Fasold M, Fleming D, Flicek P, Fowler KE, Frésard L, Froman DP, Garceau V, Gardner PP, Gheyas AA, Griffin DK, Groenen MA, Haaf T, Hanotte O, Hart A, Häsler J, Hedges SB, Hertel J, Howe K, Hubbard A, Hume DA, Kaiser P, Kedra D, Kemp SJ, Klopp C, Kniel KE, Kuo R, Lagarrigue S, Lamont SJ, Larkin DM, Lawal RA, Markland SM, McCarthy F, McCormack HA, McPherson MC, Motegi A, Muljo SA, Münsterberg A, Nag R, Nanda I, Neuberger M, Nitsche A, Notredame C, Noyes H, O'Connor R, O'Hare EA, Oler AJ, Ommeh SC, Pais H, Persia M, Pitel F, Preeyanon L, Prieto Barja P, Pritchett EM, Rhoads DD, Robinson CM, Romanov MN, Rothschild M, Roux PF, Schmidt CJ, Schneider AS, Schwartz MG, Searle SM, Skinner MA, Smith CA, Stadler PF, Steeves TE, Steinlein C, Sun L, Takata M, Ulitsky I, Wang Q, Wang Y, Warren WC, Wood JM, Wragg D, Zhou H.

Cytogenet Genome Res. 2015;145(2):78-179. doi: 10.1159/000430927. Epub 2015 Jul 14. No abstract available.

8.

Genome-Wide Characterization of RNA Editing in Chicken Embryos Reveals Common Features among Vertebrates.

Frésard L, Leroux S, Roux PF, Klopp C, Fabre S, Esquerré D, Dehais P, Djari A, Gourichon D, Lagarrigue S, Pitel F.

PLoS One. 2015 May 29;10(5):e0126776. doi: 10.1371/journal.pone.0126776. eCollection 2015.

9.

Transcriptome-wide investigation of genomic imprinting in chicken.

Frésard L, Leroux S, Servin B, Gourichon D, Dehais P, Cristobal MS, Marsaud N, Vignoles F, Bed'hom B, Coville JL, Hormozdiari F, Beaumont C, Zerjal T, Vignal A, Morisson M, Lagarrigue S, Pitel F.

Nucleic Acids Res. 2014 Apr;42(6):3768-82. doi: 10.1093/nar/gkt1390. Epub 2014 Jan 21.

10.

Epigenetics and phenotypic variability: some interesting insights from birds.

Frésard L, Morisson M, Brun JM, Collin A, Pain B, Minvielle F, Pitel F.

Genet Sel Evol. 2013 Jun 11;45:16. doi: 10.1186/1297-9686-45-16. Review.

11.

Fine mapping of complex traits in non-model species: using next generation sequencing and advanced intercross lines in Japanese quail.

Frésard L, Leroux S, Dehais P, Servin B, Gilbert H, Bouchez O, Klopp C, Cabau C, Vignoles F, Feve K, Ricros A, Gourichon D, Diot C, Richard S, Leterrier C, Beaumont C, Vignal A, Minvielle F, Pitel F.

BMC Genomics. 2012 Oct 15;13:551. doi: 10.1186/1471-2164-13-551.

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