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Page 1
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.
Mascibroda LG, Shboul M, Elrod ND, Colleaux L, Hamamy H, Huang KL, Peart N, Singh MK, Lee H, Merriman B, Jodoin JN, Sitaram P, Lee LA, Fathalla R, Al-Rawashdeh B, Ababneh O, El-Khateeb M, Escande-Beillard N, Nelson SF, Wu Y, Tong L, Kenney LJ, Roy S, Russell WK, Amiel J, Reversade B, Wagner EJ. Mascibroda LG, et al. Among authors: colleaux l. Nat Commun. 2022 Oct 13;13(1):6054. doi: 10.1038/s41467-022-33547-8. Nat Commun. 2022. PMID: 36229431 Free PMC article.
Contiguous mutation syndrome in the era of high-throughput sequencing.
Langouët M, Siquier-Pernet K, Sanquer S, Bole-Feysot C, Nitschke P, Boddaert N, Munnich A, Mancini GM, Barouki R, Amiel J, Colleaux L. Langouët M, et al. Among authors: colleaux l. Mol Genet Genomic Med. 2015 May;3(3):215-20. doi: 10.1002/mgg3.134. Epub 2015 Mar 18. Mol Genet Genomic Med. 2015. PMID: 26029708 Free PMC article.
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.
Mircsof D, Langouët M, Rio M, Moutton S, Siquier-Pernet K, Bole-Feysot C, Cagnard N, Nitschke P, Gaspar L, Žnidarič M, Alibeu O, Fritz AK, Wolfer DP, Schröter A, Bosshard G, Rudin M, Koester C, Crestani F, Seebeck P, Boddaert N, Prescott K; DDD Study; Hines R, Moss SJ, Fritschy JM, Munnich A, Amiel J, Brown SA, Tyagarajan SK, Colleaux L. Mircsof D, et al. Among authors: colleaux l. Nat Neurosci. 2015 Dec;18(12):1731-6. doi: 10.1038/nn.4169. Epub 2015 Nov 16. Nat Neurosci. 2015. PMID: 26571461 Free PMC article.
AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability.
Brechet A, Buchert R, Schwenk J, Boudkkazi S, Zolles G, Siquier-Pernet K, Schaber I, Bildl W, Saadi A, Bole-Feysot C, Nitschke P, Reis A, Sticht H, Al-Sanna'a N, Rolfs A, Kulik A, Schulte U, Colleaux L, Abou Jamra R, Fakler B. Brechet A, et al. Among authors: colleaux l. Nat Commun. 2017 Jul 4;8:15910. doi: 10.1038/ncomms15910. Nat Commun. 2017. PMID: 28675162 Free PMC article.
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.
Ucuncu E, Rajamani K, Wilson MSC, Medina-Cano D, Altin N, David P, Barcia G, Lefort N, Banal C, Vasilache-Dangles MT, Pitelet G, Lorino E, Rabasse N, Bieth E, Zaki MS, Topcu M, Sonmez FM, Musaev D, Stanley V, Bole-Feysot C, Nitschké P, Munnich A, Bahi-Buisson N, Fossoud C, Giuliano F, Colleaux L, Burglen L, Gleeson JG, Boddaert N, Saiardi A, Cantagrel V. Ucuncu E, et al. Among authors: colleaux l. Nat Commun. 2020 Nov 30;11(1):6087. doi: 10.1038/s41467-020-19919-y. Nat Commun. 2020. PMID: 33257696 Free PMC article.
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
Amiel J, Rio M, de Pontual L, Redon R, Malan V, Boddaert N, Plouin P, Carter NP, Lyonnet S, Munnich A, Colleaux L. Amiel J, et al. Among authors: colleaux l. Am J Hum Genet. 2007 May;80(5):988-93. doi: 10.1086/515582. Epub 2007 Mar 23. Am J Hum Genet. 2007. PMID: 17436254 Free PMC article.
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Chemin J, Siquier-Pernet K, Nicouleau M, Barcia G, Ahmad A, Medina-Cano D, Hanein S, Altin N, Hubert L, Bole-Feysot C, Fourage C, Nitschké P, Thevenon J, Rio M, Blanc P, Vidal C, Bahi-Buisson N, Desguerre I, Munnich A, Lyonnet S, Boddaert N, Fassi E, Shinawi M, Zimmerman H, Amiel J, Faivre L, Colleaux L, Lory P, Cantagrel V. Chemin J, et al. Among authors: colleaux l. Brain. 2018 Jul 1;141(7):1998-2013. doi: 10.1093/brain/awy145. Brain. 2018. PMID: 29878067
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.
Philippe O, Rio M, Malan V, Van Esch H, Baujat G, Bahi-Buisson N, Valayannopoulos V, Gesny R, Bonnefont JP, Munnich A, Froyen G, Amiel J, Boddaert N, Colleaux L. Philippe O, et al. Among authors: colleaux l. Eur J Hum Genet. 2013 Feb;21(2):195-9. doi: 10.1038/ejhg.2012.140. Epub 2012 Jul 18. Eur J Hum Genet. 2013. PMID: 22805531 Free PMC article.
122 results