Publications de GENDEV

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)

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

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.

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.

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.

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.

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.

​​​​​​​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.

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

​​​​​​​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.

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.

​​​​​​​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.

​​​​​​​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.