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WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Karam A, Delvallée C, Estrada-Cuzcano A, Geoffroy V, Lamouche JB, Leuvrey AS, Nourisson E, Tarabeux J, Stoetzel C, Scheidecker S, Porter LF, Génin E, Redon R, Sandron F, Boland A, Deleuze JF, Le May N, Dollfus H, Muller J. Karam A, et al. Among authors: boland a. Int J Mol Sci. 2023 May 13;24(10):8729. doi: 10.3390/ijms24108729. Int J Mol Sci. 2023. PMID: 37240074 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
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.
Nicolas G, Charbonnier C, Wallon D, Quenez O, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Génin E, Lambert JC, Hannequin D, Campion D; CNR-MAJ collaborators. Nicolas G, et al. Among authors: boland a. Mol Psychiatry. 2016 Jun;21(6):831-6. doi: 10.1038/mp.2015.121. Epub 2015 Aug 25. Mol Psychiatry. 2016. PMID: 26303663
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB, Khiati S, Denommé AS, Amati-Bonneau P, Charif M, Procaccio V, Reynier P, Aleck KA, Botto LD, Herper CL, Kaiser CS, Nabbout R, N'Guyen S, Mora-Lorca JA, Assmann B, Christ S, Meitinger T, Strom TM, Prokisch H; FREX Consortium; Miranda-Vizuete A, Hoffmann GF, Lenaers G, Bomont P, Liebau E, Bonneau D. Colin E, et al. Am J Hum Genet. 2016 Sep 1;99(3):695-703. doi: 10.1016/j.ajhg.2016.06.030. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545681 Free PMC article.
17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.
Le Guennec K, Quenez O, Nicolas G, Wallon D, Rousseau S, Richard AC, Alexander J, Paschou P, Charbonnier C, Bellenguez C, Grenier-Boley B, Lechner D, Bihoreau MT, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Martinaud O, Kalev O, Mehrabian S, Traykov L, Ströbel T, Le Ber I, Caroppo P, Epelbaum S, Jonveaux T, Pasquier F, Rollin-Sillaire A, Génin E, Guyant-Maréchal L, Kovacs GG, Lambert JC, Hannequin D, Campion D, Rovelet-Lecrux A. Le Guennec K, et al. Among authors: boland a. Mol Psychiatry. 2017 Aug;22(8):1119-1125. doi: 10.1038/mp.2016.226. Epub 2016 Dec 13. Mol Psychiatry. 2017. PMID: 27956742
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.
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.
Saultier P, Vidal L, Canault M, Bernot D, Falaise C, Pouymayou C, Bordet JC, Saut N, Rostan A, Baccini V, Peiretti F, Favier M, Lucca P, Deleuze JF, Olaso R, Boland A, Morange PE, Gachet C, Malergue F, Fauré S, Eckly A, Trégouët DA, Poggi M, Alessi MC. Saultier P, et al. Among authors: boland a. Haematologica. 2017 Jun;102(6):1006-1016. doi: 10.3324/haematol.2016.153577. Epub 2017 Mar 2. Haematologica. 2017. PMID: 28255014 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.
542 results