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Plus de 20 ans de recherche sur les anomalies nous ont permis de valoriser nos travaux d'identification de variants responsables d'anomalies : 

• Identification of a doublet missense substitution in the bovine LRP4 gene as a candidate causal mutation for syndactyly in Holstein cattle.
  Duchesne A, Gautier M, Chadi S, Grohs C, Floriot S, Gallard Y, Caste G, Ducos A, Eggen A. Genomics. 2006 Nov;88(5):610-21. Epub 2006 Jul 21. PMID: 16859890
• A Generalized Caprine-like Hypoplasia Syndrome is localized within a 6-cM interval on bovine chromosome 13 in the Montbéliarde breed.
  Duchesne A, Manciaux L, Gautier M, Floriot S, Grohs C, Fritz S, Druet T, Schelcher F, Ducos A, Eggen A. Anim Genet. 2008 Apr;39(2):112-20. PMID: 18366474
• The scurs inheritance: new insights from the French Charolais breed.
  Capitan A, Grohs C, Gautier M, Eggen A. BMC Genet. 2009 Jul 6;10:33. PMID: 19575823
• A newly described bovine type 2 scurs syndrome segregates with a frame-shift mutation in TWIST1.
  Capitan A, Grohs C, Weiss B, Rossignol MN, Reversé P, Eggen A. PLoS One. 2011;6(7):e22242. Epub 2011 Jul 21. PMID: 21814570
• A 3.7 Mb deletion encompassing ZEB2 causes a novel polled and multisystemic syndrome in the progeny of a somatic mosaic bull.
  Capitan A, Allais-Bonnet A, Pinton A, Marquant-Le Guienne B, Le Bourhis D, Grohs C, Bouet S, Clément L, Salas-Cortes L, Venot E, Chaffaux S, Weiss B, Delpeuch A, Noé G, Rossignol MN, Barbey S, Dozias D, Cobo E, Barasc H, Auguste A, Pannetier M, Deloche MC, Lhuilier E, Bouchez O, Esquerré D, Salin G, Klopp C, Donnadieu C, Chantry-Darmon C, Hayes H, Gallard Y, Ponsart C, Boichard D, Pailhoux E. PLoS One. 2012;7(11):e49084. doi: 10.1371/journal.pone.0049084. PMID:    23152852
• Novel insights into the bovine polled phenotype and horn ontogenesis in Bovidae.
  Allais-Bonnet A, Grohs C, Medugorac I, Krebs S, Djari A, Graf A, Fritz S, Seichter D, Baur A, Russ I, Bouet S, Rothammer S, Wahlberg P, Esquerré D, Hoze C, Boussaha M, Weiss B, Thépot D, Fouilloux MN, Rossignol MN, van Marle-Köster E, Hreiðarsdóttir GE, Barbey S, Dozias D, Cobo E, Reversé P, Catros O, Marchand JL, Soulas P, Roy P, Marquant-Leguienne B, Le Bourhis D, Clément L, Salas-Cortes L, Venot E, Pannetier M, Phocas F, Klopp C, Rocha D, Fouchet M, Journaux L, Bernard-Capel C, Ponsart C, Eggen A, Blum H, Gallard Y, Boichard D, Pailhoux E, Capitan A. PLoS One. 2013 May 22;8(5):e63512. doi: 10.1371/journal.pone.0063512. PMID: 23717440
• Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle.
  Daetwyler, H. D., Capitan, A., Pausch, H., Stothard, P., van Binsbergen, R., Brøndum, R. F., Liao, X., Djari, A., Rodriguez, S., Grohs, C., Esquerré, D., Bouchez, O., Rossignol, M.-N., Klopp, C., Rocha, D., Fritz, S., Eggen, A., Bowman, P. J., Coote, D., Chamberlain, A. J., Anderson, C., VanTassell, C. P., Hulsegge, I., Goddard, M. E., Guldbrandtsen, B., Lund, M. S., Veerkamp, R. F., Boichard, D., Fries, R., Hayes, B. J. (2014). Nature Genetics, 46 (8), 858–865.
• C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle.
  Floriot S., Vesque C., Rodriguez S., Bourgain-Guglielmetti F., Karaiskou A., Gautier M., Duchesne A., Barbey S., Fritz S., Vasilescu A., Bertaud M., Moudjou M., Halliez S., Cormier-Daire V., Hokayem J.E.L., Nigg E.A., Manciaux L., Guatteo R., Cesbron N., Toutirais G., Eggen A., Schneider-Maunoury S., Boichard D., Sobczak-Thépot J., Schibler L. 2015. Nature Communications, Apr 23;6:6894
• Whole-genome sequencing identifies a homozygous deletion encompassing exons 17 to 23 of the integrin beta 4 gene in a Charolais calf with junctional epidermolysis bullosa.
  Michot P, Fantini O, Braque R, Allais-Bonnet A, Saintilan R, Grohs C, Barbieri J, Genestout L, Danchin-Burge C, Gourreau JM, Boichard D, Pin D, Capitan A. Genet Sel Evol. 2015 May 3;47:37. doi: 10.1186/s12711-015-0110-z. PMID:    25935160
• A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds.
  Michot P, Chahory S, Marete A, Grohs C, Dagios D, Donzel E, Aboukadiri A, Deloche MC, Allais-Bonnet A, Chambrial M, Barbey S, Genestout L, Boussaha M, Danchin-Burge C, Fritz S, Boichard D, Capitan A. Genet Sel Evol. 2016 Aug 10;48(1):56. doi: 10.1186/s12711-016-0232-y. PMID:    27510606
• A missense mutation in PFAS (phosphoribosylformylglycinamidine synthase) is likely causal for embryonic lethality associated with the MH1 haplotype in Montbéliarde dairy cattle. August 2017 Journal of Dairy Science.
  Pauline Michot Sébastien Fritz Anne Barbat-Leterrier [...]Aurélien Capitan. PMID: 28803020 DOI: 10.3168/jds.2017-12579
• Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species, December 2017 Scientific Reports,
  Emmanuelle Bourneuf P. Otz Hubert Pausch [...]Aurélien Capitan; PMID: 28904385 PMCID: PMC5597596 DOI: 10.1038/s41598-017-11523-3
• Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health.
  Duchesne A, Vaiman A, Castille J, Beauvallet C, Gaignard P, Floriot S, et al. (2017). PLoS Genet 13(4): e1006597. https://doi.org/10.1371/journal.pgen.1006597
• Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination.
  Duchesne A, Vaiman A, Frah M, Floriot S, Legoueix-Rodriguez S, Desmazières A, et al. (2018) PLoS Genet 14(8): e1007550. https://doi.org/10.1371/journal.pgen.1007550
• An initiator codon mutation in SDE2 causes recessive embryonic lethality in Holstein cattle. April 2018 Journal of Dairy Science,
  Sébastien Fritz Chris Hoze Emmanuelle Rebours[...] Aurélien CapitanSource; PMID: 29680649 DOI: 10.3168/jds.2017-14119
• Α de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia. December 2019 BMC Genomics,
  Clementine Escouflaire Emmanuelle Rebours Mathieu Charles[...] Aurélien Capitan, PMID: 31533624 PMCID: PMC6749632 DOI: 10.1186/s12864-019-6087-1
• Analysis of Polycerate Mutants Reveals the Evolutionary Co-option of HOXD1 for Horn Patterning in Bovidae. Molecular Biology and Evolution, Oxford University Press (OUP), 2021,
  Aurélie Allais-Bonnet, Aurélie Hintermann, Marie-Christine Deloche, Raphael Cornette, Philippe Bardou, et al. PMID: 33528505 PMCID: PMC8136503 DOI: 10.1093/molbev/msab021
• Rare cases of hernia of the linea alba among TWIST1 haploinsufficient Charolais cattle Animal genetics, Vol 53, Issue 2 2022;
  Cécile Grohs,Mekki Boussaha,Chris Hozé,Aurélien Capitan, First published: 21 February 2022. PMID: 35187669 DOI: 10.1111/age.13179
• Mutation of the MYH3 gene causes recessive cleft palate in Limousine cattle Genetics Selection Evolution, october 2022 54:71.
  Anne Vaiman, Sébastien Fritz, Christian Beauvallet, Mekki Boussaha, Cécile Grohs, Nathalie Daniel‑Carlier, Anne Relun, Didier Boichard, Jean‑Luc Vilotte and Amandine Duchesne. https://doi.org/10.1186/s12711-022-00762-2
• Large-scale detection and characterization of interchromosomal rearrangements in normozoospermic bulls using massive genotype and phenotype datasets
  Jeanlin Jourdain, Harmonie Barasc, Thomas Faraut, Anne Calgaro, Nathalie Bonnet, Anne Barbat, Chris Hozé, Florian Besnard, Sébastien Taussat, Cécile Grohs, Alain Pinton, Didier Boichard and Aurélien Capitan
• Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle
  Mekki Boussaha; Arnaud Boulling; Valérie Wolgust; Lorraine Bourgeois-Brunel; Pauline Michot; Cécile Grohs; Nicolas Gaiani; Pierre-Yves Grivaud; Hélène Leclerc; Coralie Danchin-Burge; Marthe Vilotte; Didier Boichard; Jean-Marie Gourreau; Aurélien Capitan
• Detailed analysis of mortality rates in the female progeny of 1001 Holstein bulls allows the discovery of new dominant genetic defects J. Dairy Sci. 106 https://doi.org/10.3168/jds.2022-22365 2023.
  Besnard Florian, Leclerc Helene, Boussaha Mekki, GROHS Cecile, Jewell Natalie, Pinton Alain, Barsac Harmonie, Jourdain Jeanlin, Femenia Maureen, Dorso Laetitia, Strugnell Ben, Floyd Tobias, DANCHIN-BURGE Coralie, Guatteo Raphaël, Cassart Dominique, Hubin Xavier, Mattalia Sophie, Boichard Didier, Capitan Aurelien
• Large-scale detection and characterization of interchromosomal rearrangements in normozoospermic bulls using massive genotype and phenotype datasets. Genome Research, 33:957–971.  https://doi.org/10.1101/gr.277787.123
  Jeanlin Jourdain, H. Barasc, T. Faraut, A. Calgaro, N. Bonnet, C. Marcuzzo, A. Suin, A. Barbat, C. Hoze, F. Besnard, S. Taussat, C. Grohs, C. Kuchly, C. Iampietro, C. Donnadieu, A. Pinton, D. Boichard, A. Capitan.