Publications de GENDEV

Voir le site HAL des publications de l'équipe

Guguin J, Chen T-Y, Besson A, Cuinat S, Bertiaux E, Boutaud L, Ardito N, Imaz Muruiondo M, Cabet S, Hamel V, Thomas S, Pain B, Edery P, Putoux A, Tang KT, Mazoyer S, Delous M*. A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids. PLoS Genet. (2024) 20(12):e1011517, doi.org/10.1371/journal.pgen.1011517 

Gauthier LW, Gossez M, Malcus C, Viel S, Monneret G, Bordonné R, Pons L, Cabet S, Delous M, Mazoyer S, Putoux A, Edery P. B-cell immune deficiency in twin sisters expands the phenotype of MOPDI. Clin Genet (2024) 106(4):476–482, doi.org/10.1111/cge.14571 

Guilhem A, Ruet S, Edery P, Acquaviva C, Rossi M. Elastin turnover in Williams-Beuren and 7q11.23 microduplication syndromes. Eur Heart J Open. (2024) 4(3):oeae045, doi.org/10.1093/ehjopen/oeae045 

Fraissenon A, Bayard C, Morin G, Benichi S, Hoguin C, Protic S, Zerbib L, Ladraa S, Firpion M, Blauwblomme T, Naggara O, Duruisseaux M, Delous M, Boitel C, Bringuier PP, Payen L, Legendre C, Kaltenbach S, Balducci E, Villarese P, Asnafi V, Bisdorff A, Guibaud L, Canaud G. Sotorasib for Vascular Malformations Associated with KRAS p.G12C Mutation. N Engl J Med (2024) 391(4):334-342, doi.org/10.1056/NEJMoa2309160

Cuinat S, Quélin C, Pasquier L, Loget P, Aussel D, Odent S, Laquerrière A, Proisy M, Mazoyer S, Delous M, Edery P, Chatron N, Lesca G, Putoux A. PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect. Eur J Med Genet (2023) 66(11):104852, doi.org/10.1016/j.ejmg.2023.104852

Khatri D*, Putoux A*, Cologne A, Kaltenbach S, Besson A, Bertiaux E, Guguin J, Fendler A, Dupont MA, Benoit-Pilven C, Qebibo L, Ahmed-Elie S, Audebert-Bellanger S, Blanc P, Rambaud T, Castelle M, Cornen G, Grotto S, Guët A, Guibaud L, Michot C, Odent O, Ruaud L, Sacaze E, Hamel V, Bordonné R, Leutenegger A-L, Edery P, Burglen L, Attié-Bitach T, Mazoyer Sǂ, and Delous Mǂ§. Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish. Proc Natl Acad Sci USA. (2023) 120(9):e2102569120, doi.org/10.1073/pnas.2102569120

Almentina Ramos Shidi F A, Cologne A, Delous M, Besson A, Putoux A, Leutenegger A-L, Lacroix V, Edery P, Mazoyer S, Bordonné R. Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex. Nucleic Acids Res. (2022) 51(2):712-727, doi.org/10.1093/nar/gkac1182

Gauthier LW, Chatron N, Cabet S, Labalme A, Carneiro M, Poirot I, Delvert C, Gleizal A, Lesca G, Putoux A. Description of a novel patient with the TRPM3 recurrent p.Val837Met variant. Eur J Med Genet. (2021) 64(11):104320, doi.org/10.1016/j.ejmg.2021.104320

Bousquet I, Bozon M, Castellani V, Touraine R, Piton A, Gérard B, Guibaud L, Sanlaville D, Edery P, Saugier-Veber P, Putoux A. X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant. Neurogenetics (2021) 22(1):43-51, doi.org/10.1007/s10048-020-00629-y

Benoit-Pilven C, Besson A, Putoux A, Benetollo C, Saccaro C, Guguin J, Sala G, Cologne A, Delous M, Lesca G, Padgett RA, Leutenegger AL, Lacroix V, Edery P, Mazoyer S. Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene. PLoS One (2020) 15(7):e0235655, doi.org/10.1371/journal.pone.0235655

Dery T, Chatron N, Alqahtani A, Pugeat M, Till M, Edery P, Sanlaville D, Schluth-Bolard C, Nicolino M, Lesca G, Putoux A. Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome. Eur J Med Genet. (2020) 63(11):104044, doi.org/10.1016/j.ejmg.2020.104044

Sapey-Triomphe LA, Reversat J, Lesca G, Chatron N, Bussa M, Mazoyer S, Schmitz C, Sonié S, Edery P. A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability. Hum Genomics (2020) 14(1):32, doi.org/10.1186/s40246-020-00281-5

Cologne A, Benoit-Pilven C, Besson A, Putoux A, Campan-Fournier A, Bober MB, de Die-Smulders CEM, Paulussen ADC, Pinson L, Toutain A, Roifman C, Leutenegger AL*, Mazoyer S*, Edery P*, Lacroix V*. New insights into minor splicing - A transcriptomic analysis of cells derived from TALS patients. RNA (2019) 25(9):1130-1149, doi.org/10.1261/rna.071423.119

Masson J, Demily C, Chatron N, Labalme A, Rollat-Farnier PA, Schluth-Bolard C, Gilbert-Dussardier B, Giuliano F, Touraine R, Tordjman S, Verloes A, Testa G, Sanlaville D, Edery P, Lesca G, Rossi M. Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder. Orphanet J Rare Dis. (2019) 14(1):121, doi.org/10.1186/s13023-019-1094-5