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The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol.
Lejeune C, Robert-Viard C, Meunier-Beillard N, Borel MA, Gourvès L, Staraci S, Soilly AL, Guillemin F, Seror V, Achit H, Bouctot M, Asensio ML, Briffaut AS, Delmas C, Bruel AL, Benoit A, Simon A, Gerard B, Hadj Abdallah H, Lyonnet S, Faivre L, Thauvin-Robinet C, Odent S, Heron D, Sanlaville D, Frebourg T, Muller J, Duffourd Y, Boland A, Deleuze JF, Espérou H, Binquet C, Dollfus H. Lejeune C, et al. Among authors: boland a. Front Genet. 2022 Apr 4;13:852472. doi: 10.3389/fgene.2022.852472. eCollection 2022. Front Genet. 2022. PMID: 35444683 Free PMC article.
A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects.
Augière C, Mégy S, El Malti R, Boland A, El Zein L, Verrier B, Mégarbané A, Deleuze JF, Bouvagnet P. Augière C, et al. Among authors: boland a. PLoS One. 2015 Jun 10;10(6):e0127903. doi: 10.1371/journal.pone.0127903. eCollection 2015. PLoS One. 2015. PMID: 26061005 Free PMC article.
Rare ACTG1 variants in fetal microlissencephaly.
Poirier K, Martinovic J, Laquerrière A, Cavallin M, Fallet-Bianco C, Desguerre I, Valence S, Grande-Goburghun J, Francannet C, Deleuze JF, Boland A, Chelly J, Bahi-Buisson N. Poirier K, et al. Among authors: boland a. Eur J Med Genet. 2015 Aug;58(8):416-8. doi: 10.1016/j.ejmg.2015.06.006. Epub 2015 Jul 16. Eur J Med Genet. 2015. PMID: 26188271
Bdf1 Bromodomains Are Essential for Meiosis and the Expression of Meiotic-Specific Genes.
García-Oliver E, Ramus C, Perot J, Arlotto M, Champleboux M, Mietton F, Battail C, Boland A, Deleuze JF, Ferro M, Couté Y, Govin J. García-Oliver E, et al. Among authors: boland a. PLoS Genet. 2017 Jan 9;13(1):e1006541. doi: 10.1371/journal.pgen.1006541. eCollection 2017 Jan. PLoS Genet. 2017. PMID: 28068333 Free PMC article.
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Douce JL; FREX Consortium; GoNL Consortium; Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute O, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V. Kim A, et al. Brain. 2019 Jan 1;142(1):35-49. doi: 10.1093/brain/awy290. Brain. 2019. PMID: 30508070 Free article.
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Sanchez E, Laplace-Builhé B, Mau-Them FT, Richard E, Goldenberg A, Toler TL, Guignard T, Gatinois V, Vincent M, Blanchet C, Boland A, Bihoreau MT, Deleuze JF, Olaso R, Nephi W, Lüdecke HJ, Verheij JBGM, Moreau-Lenoir F, Denoyelle F, Rivière JB, Laplanche JL, Willing M, Captier G, Apparailly F, Wieczorek D, Collet C, Djouad F, Geneviève D. Sanchez E, et al. Among authors: boland a. Genet Med. 2020 Mar;22(3):547-556. doi: 10.1038/s41436-019-0669-9. Epub 2019 Oct 24. Genet Med. 2020. PMID: 31649276 Free PMC article.
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.
Uguen K, Jubin C, Duffourd Y, Bardel C, Malan V, Dupont JM, El Khattabi L, Chatron N, Vitobello A, Rollat-Farnier PA, Baulard C, Lelorch M, Leduc A, Tisserant E, Tran Mau-Them F, Danjean V, Delepine M, Till M, Meyer V, Lyonnet S, Mosca-Boidron AL, Thevenon J, Faivre L, Thauvin-Robinet C, Schluth-Bolard C, Boland A, Olaso R, Callier P, Romana S, Deleuze JF, Sanlaville D. Uguen K, et al. Among authors: boland a. Mol Genet Genomic Med. 2020 Mar;8(3):e1114. doi: 10.1002/mgg3.1114. Epub 2020 Jan 27. Mol Genet Genomic Med. 2020. PMID: 31985172 Free PMC article.
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T, Lecoquierre F, Cassinari K, Charbonnier C, Quenez O, Goldenberg A, Guerrot AM, Richard AC, Drouin-Garraud V, Brehin AC, Soleimani M, Taton R, Rotharmel M, Rosier A, Chambon P, Le Meur N, Joly-Helas G, Saugier-Veber P, Boland A, Deleuze JF, Olaso R, Frebourg T, Nicolas G, Guillin O, Campion D. Husson T, et al. Among authors: boland a. Transl Psychiatry. 2020 Feb 24;10(1):77. doi: 10.1038/s41398-020-0760-7. Transl Psychiatry. 2020. PMID: 32094338 Free PMC article.
544 results