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Page 1
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Baer S, Afenjar A, Smol T, Piton A, Gérard B, Alembik Y, Bienvenu T, Boursier G, Boute O, Colson C, Cordier MP, Cormier-Daire V, Delobel B, Doco-Fenzy M, Duban-Bedu B, Fradin M, Geneviève D, Goldenberg A, Grelet M, Haye D, Heron D, Isidor B, Keren B, Lacombe D, Lèbre AS, Lesca G, Masurel A, Mathieu-Dramard M, Nava C, Pasquier L, Petit A, Philip N, Piard J, Rondeau S, Saugier-Veber P, Sukno S, Thevenon J, Van-Gils J, Vincent-Delorme C, Willems M, Schaefer E, Morin G. Baer S, et al. Among authors: colson c. Clin Genet. 2018 Jul;94(1):141-152. doi: 10.1111/cge.13254. Epub 2018 May 17. Clin Genet. 2018. PMID: 29574747 Review.
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J. Smol T, et al. Among authors: colson c. Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-0541-0. Epub 2018 Mar 6. Neurogenetics. 2018. PMID: 29511999
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Vibert R, Mignot C, Keren B, Chantot-Bastaraud S, Portnoï MF, Nouguès MC, Moutard ML, Faudet A, Whalen S, Haye D, Garel C, Chatron N, Rossi M, Vincent-Delorme C, Boute O, Delobel B, Andrieux J, Devillard F, Coutton C, Puechberty J, Pebrel-Richard C, Colson C, Gerard M, Missirian C, Sigaudy S, Busa T, Doco-Fenzy M, Malan V, Rio M, Doray B, Sanlaville D, Siffroi JP, Héron D, Heide S. Vibert R, et al. Among authors: colson c. Clin Genet. 2022 Mar;101(3):307-316. doi: 10.1111/cge.14096. Epub 2021 Dec 15. Clin Genet. 2022. PMID: 34866188
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Vera G, Sorlin A, Delplancq G, Lecoquierre F, Brasseur-Daudruy M, Petit F, Smol T, Ziegler A, Bonneau D, Colin E, Mercier S, Cogné B, Bézieau S, Edery P, Lesca G, Chatron N, Sabatier I, Duban-Bedu B, Colson C, Piton A, Durand B, Capri Y, Perrin L, Wiesener A, Zweier C, Maroofian R, Carroll CJ, Galehdari H, Mazaheri N, Callewaert B, Giulianno F, Zaafrane-Khachnaoui K, Buchert-Lo R, Haack T, Magg J, Rieß A, Blandfort M, Waldmüller S, Horber V, Leonardi E, Polli R, Turolla L, Murgia A, Frebourg T, Lebre AS, Nicolas G, Saugier-Veber P, Guerrot AM. Vera G, et al. Among authors: colson c. Eur J Med Genet. 2020 Oct;63(10):104004. doi: 10.1016/j.ejmg.2020.104004. Epub 2020 Jul 17. Eur J Med Genet. 2020. PMID: 32688057
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.
Messiaen C, Racine C, Khatim A, Soussand L, Odent S, Lacombe D, Manouvrier S, Edery P, Sigaudy S, Geneviève D, Thauvin-Robinet C, Pasquier L, Petit F, Rossi M, Willems M, Attié-Bitach T, Roux-Levy PH, Demougeot L, Slama LB, Landais P; AnDDI-Rares network; Jannot AS, Binquet C, Sandrin A, Verloes A, Faivre L. Messiaen C, et al. Orphanet J Rare Dis. 2021 Aug 4;16(1):345. doi: 10.1186/s13023-021-01957-4. Orphanet J Rare Dis. 2021. PMID: 34348744 Free PMC article.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Tessadori F, Duran K, Knapp K, Fellner M; Deciphering Developmental Disorders Study; Smithson S, Beleza Meireles A, Elting MW, Waisfisz Q, O'Donnell-Luria A, Nowak C, Douglas J, Ronan A, Brunet T, Kotzaeridou U, Svihovec S, Saenz MS, Thiffault I, Del Viso F, Devine P, Rego S, Tenney J, van Haeringen A, Ruivenkamp CAL, Koene S, Robertson SP, Deshpande C, Pfundt R, Verbeek N, van de Kamp JM, Weiss JMM, Ruiz A, Gabau E, Banne E, Pepler A, Bottani A, Laurent S, Guipponi M, Bijlsma E, Bruel AL, Sorlin A, Willis M, Powis Z, Smol T, Vincent-Delorme C, Baralle D, Colin E, Revencu N, Calpena E, Wilkie AOM, Chopra M, Cormier-Daire V, Keren B, Afenjar A, Niceta M, Terracciano A, Specchio N, Tartaglia M, Rio M, Barcia G, Rondeau S, Colson C, Bakkers J, Mace PD, Bicknell LS, van Haaften G. Tessadori F, et al. Among authors: colson c. Am J Hum Genet. 2022 Apr 7;109(4):750-758. doi: 10.1016/j.ajhg.2022.02.003. Epub 2022 Feb 23. Am J Hum Genet. 2022. PMID: 35202563 Free PMC article.
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.
Jourdain AS, Petit F, Odou MF, Balduyck M, Brunelle P, Dufour W, Boussion S, Brischoux-Boucher E, Colson C, Dieux A, Gérard M, Ghoumid J, Giuliano F, Goldenberg A, Khau Van Kien P, Lehalle D, Morin G, Moutton S, Smol T, Vanlerberghe C, Manouvrier-Hanu S, Escande F. Jourdain AS, et al. Among authors: colson c. Hum Mutat. 2020 Jan;41(1):222-239. doi: 10.1002/humu.23912. Epub 2019 Sep 23. Hum Mutat. 2020. PMID: 31502745
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.
Grelet M, Blanck V, Sigaudy S, Philip N, Giuliano F, Khachnaoui K, Morel G, Grotto S, Sophie J, Poirsier C, Lespinasse J, Alric L, Calvas P, Chalhoub G, Layet V, Molin A, Colson C, Marsili L, Edery P, Lévy N, De Sandre-Giovannoli A. Grelet M, et al. Among authors: colson c. Orphanet J Rare Dis. 2019 Dec 11;14(1):288. doi: 10.1186/s13023-019-1189-z. Orphanet J Rare Dis. 2019. PMID: 31829210 Free PMC article.
Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.
Snanoudj S, Molin A, Colson C, Coudray N, Paulien S, Mittre H, Gérard M, Schaefer E, Goldenberg A, Bacchetta J, Odent S, Naudion S, Demeer B, Faivre L, Gruchy N, Kottler ML, Richard N. Snanoudj S, et al. Among authors: colson c. J Bone Miner Res. 2020 May;35(5):913-919. doi: 10.1002/jbmr.3948. Epub 2020 Jan 13. J Bone Miner Res. 2020. PMID: 31886927 Free article.
146 results