Publications of GENDEV

HAL site of the team's publications


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: 10.1073/pnas.2102569120

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,

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,

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: 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: 10.1186/s13023-019-1094-5

Coton J, Labalme A, Till M, Bussy G, Krifi Papoz S, Lesca G, Heron D, Sanlaville D, Edery P, des Portes V, Rossi M. Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations. Clin Case Rep (2018) 6(5): 827-834, doi: 10.1002/ccr3.1450

Rossi M, Chatron N, Labalme A, Ville D, Carneiro M, Edery P, des Portes V, Lemke JR, Sanlaville D, Lesca G. Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. Eur J Hum Genet (2017) 25(3): 376-380, doi: 10.1038/ejhg.2016.163

Mathieu ML, Demily C, Chantot-Bastaraud S, Afenjar A, Mignot C, Andrieux J, Gerard M, Catala-Mora J, Jouk PS, Labalme A, Edery P, Sanlaville D, Rossi M. Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions. Am J Med Genet A (2017) 173(8): 2268-2274, doi: 10.1002/ajmg.a.38307

Demily C, Poisson A, Peyroux E, Gatellier V, Nicolas A, Rigard C, Schluth-Bolard C, Sanlaville D, Rossi M. Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature. BMC Med Genet (2017) 18(1): 9, doi: 10.1186/s12881-017-0371-1

Putoux A, Alqahtani A, Pinson L, Paulussen AD, Michel J, Besson A, Mazoyer S, Borg I, Nampoothiri S, Vasiljevic A, Uwineza A, Boggio D, Champion F, de Die-Smulders CE, Gardeitchik T, van Putten WK, Perez MJ, Musizzano Y, Razavi F, Drunat S, Verloes A, Hennekam R, Guibaud L, Alix E, Sanlaville D, Lesca G, Edery P. Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome. Clin Genet (2016) 90(6): 550-555, doi: 10.1111/cge.12781

Patten SA, Margaritte-Jeannin P, Bernard JC, Alix E, Labalme A, Besson A, Girard SL, Fendri K, Fraisse N, Biot B, Poizat C, Campan-Fournier A, Abelin-Genevois K, Cunin V, Zaouter C, Liao M, Lamy R, Lesca G, Menassa R, Marcaillou C, Letexier M, Sanlaville D, Berard J, Rouleau GA, Clerget-Darpoux F, Drapeau P, Moldovan F, Edery P. Functional variants of POC5 identified in patients with idiopathic scoliosis. J Clin Invest. (2015) 125(3):1124-8, doi: 10.1172/JCI77262

Lepais L, Cheillan D, Frachon SC, Hays S, Matthijs G, Panagiotakaki E, Abel C, Edery P, Rossi M. ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation. Am J Med Genet A (2015) 167A(11): 2748-2754, doi: 10.1002/ajmg.a.37232

Demily C, Rossi M, Chesnoy-Servanin G, Martin B, Poisson A, Sanlaville D, Edery P. Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p. BMC Med Genet (2014) 15: 132, doi: 10.1186/s12881-014-0132-3

Dubruc E, Putoux A, Labalme A, Rougeot C, Sanlaville D, Edery P. A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. Am J Med Genet A (2014) 164A(6): 1571-1575, doi: 10.1002/ajmg.a.36484

​​​​​​​Pons L, Dupuis-Girod S, Cordier MP, Edery P, Rossi M. ZEB2, a new candidate gene for asplenia. Orphanet J Rare Dis (2014) 9: 2, doi: 10.1186/1750-1172-9-2