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Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome.
Vitrac A, Leblond CS, Rolland T, Cliquet F, Mathieu A, Maruani A, Delorme R, Schön M, Grabrucker AM, van Ravenswaaij-Arts C, Phelan K, Tabet AC, Bourgeron T. Vitrac A, et al. Among authors: leblond cs. Eur J Med Genet. 2023 May;66(5):104732. doi: 10.1016/j.ejmg.2023.104732. Epub 2023 Feb 21. Eur J Med Genet. 2023. PMID: 36822569 Free article. Review.
Cross-sectional and longitudinal neuroanatomical profiles of distinct clinical (adaptive) outcomes in autism.
Pretzsch CM, Floris DL, Schäfer T, Bletsch A, Gurr C, Lombardo MV, Chatham CH, Tillmann J, Charman T, Arenella M, Jones E, Ambrosino S, Bourgeron T, Dumas G, Cliquet F, Leblond CS, Loth E, Oakley B, Buitelaar JK, Baron-Cohen S, Beckmann CF, Persico AM, Banaschewski T, Durston S, Freitag CM; EU-AIMS/AIMS-2-TRIALS Consortium; Murphy DGM, Ecker C. Pretzsch CM, et al. Among authors: leblond cs. Mol Psychiatry. 2023 May;28(5):2158-2169. doi: 10.1038/s41380-023-02016-z. Epub 2023 Mar 29. Mol Psychiatry. 2023. PMID: 36991132 Free PMC article.
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, Wimbish JR, Waite LL, Jones AL, Carulli JP, Day-Williams AG, Staropoli JF, Xin WW, Chesi A, Raphael AR, McKenna-Yasek D, Cady J, Vianney de Jong JM, Kenna KP, Smith BN, Topp S, Miller J, Gkazi A; FALS Sequencing Consortium; Al-Chalabi A, van den Berg LH, Veldink J, Silani V, Ticozzi N, Shaw CE, Baloh RH, Appel S, Simpson E, Lagier-Tourenne C, Pulst SM, Gibson S, Trojanowski JQ, Elman L, McCluskey L, Grossman M, Shneider NA, Chung WK, Ravits JM, Glass JD, Sims KB, Van Deerlin VM, Maniatis T, Hayes SD, Ordureau A, Swarup S, Landers J, Baas F, Allen AS, Bedlack RS, Harper JW, Gitler AD, Rouleau GA, Brown R, Harms MB, Cooper GM, Harris T, Myers RM, Goldstein DB. Cirulli ET, et al. Among authors: leblond cs. Science. 2015 Mar 27;347(6229):1436-41. doi: 10.1126/science.aaa3650. Epub 2015 Feb 19. Science. 2015. PMID: 25700176 Free PMC article.
Phenotypic effects of genetic variants associated with autism.
Rolland T, Cliquet F, Anney RJL, Moreau C, Traut N, Mathieu A, Huguet G, Duan J, Warrier V, Portalier S, Dry L, Leblond CS, Douard E, Amsellem F, Malesys S, Maruani A, Toro R, Børglum AD, Grove J, Baron-Cohen S, Packer A, Chung WK, Jacquemont S, Delorme R, Bourgeron T. Rolland T, et al. Among authors: leblond cs. Nat Med. 2023 Jul;29(7):1671-1680. doi: 10.1038/s41591-023-02408-2. Epub 2023 Jun 26. Nat Med. 2023. PMID: 37365347 Free PMC article.
Stratifying the autistic phenotype using electrophysiological indices of social perception.
Mason L, Moessnang C, Chatham C, Ham L, Tillmann J, Dumas G, Ellis C, Leblond CS, Cliquet F, Bourgeron T, Beckmann C, Charman T, Oakley B, Banaschewski T, Meyer-Lindenberg A, Baron-Cohen S, Bölte S, Buitelaar JK, Durston S, Loth E, Oranje B, Persico A, Dell'Acqua F, Ecker C, Johnson MH, Murphy D, Jones EJH. Mason L, et al. Among authors: leblond cs. Sci Transl Med. 2022 Aug 17;14(658):eabf8987. doi: 10.1126/scitranslmed.abf8987. Epub 2022 Aug 17. Sci Transl Med. 2022. PMID: 35976994 Free article.
Genetic correlates of phenotypic heterogeneity in autism.
Warrier V, Zhang X, Reed P, Havdahl A, Moore TM, Cliquet F, Leblond CS, Rolland T, Rosengren A; EU-AIMS LEAP; iPSYCH-Autism Working Group; Spectrum 10K and APEX Consortia; Rowitch DH, Hurles ME, Geschwind DH, Børglum AD, Robinson EB, Grove J, Martin HC, Bourgeron T, Baron-Cohen S. Warrier V, et al. Among authors: leblond cs. Nat Genet. 2022 Sep;54(9):1293-1304. doi: 10.1038/s41588-022-01072-5. Epub 2022 Jun 2. Nat Genet. 2022. PMID: 35654973 Free PMC article.
Neurobiological Correlates of Change in Adaptive Behavior in Autism.
Pretzsch CM, Schäfer T, Lombardo MV, Warrier V, Mann C, Bletsch A, Chatham CH, Floris DL, Tillmann J, Yousaf A, Jones E, Charman T, Ambrosino S, Bourgeron T, Dumas G, Loth E, Oakley B, Buitelaar JK, Cliquet F, Leblond CS, Baron-Cohen S, Beckmann CF, Banaschewski T, Durston S, Freitag CM; EU-AIMS LEAP Group; Murphy DGM, Ecker C. Pretzsch CM, et al. Among authors: leblond cs. Am J Psychiatry. 2022 May;179(5):336-349. doi: 10.1176/appi.ajp.21070711. Epub 2022 Mar 25. Am J Psychiatry. 2022. PMID: 35331004
Oligogenicity, C9orf72 expansion, and variant severity in ALS.
Ross JP, Leblond CS, Laurent SB, Spiegelman D, Dionne-Laporte A, Camu W, Dupré N, Dion PA, Rouleau GA. Ross JP, et al. Among authors: leblond cs. Neurogenetics. 2020 Jul;21(3):227-242. doi: 10.1007/s10048-020-00612-7. Epub 2020 May 8. Neurogenetics. 2020. PMID: 32385536
Social and non-social autism symptoms and trait domains are genetically dissociable.
Warrier V, Toro R, Won H, Leblond CS, Cliquet F, Delorme R, De Witte W, Bralten J, Chakrabarti B, Børglum AD, Grove J, Poelmans G, Hinds DA, Bourgeron T, Baron-Cohen S. Warrier V, et al. Among authors: leblond cs. Commun Biol. 2019 Sep 3;2:328. doi: 10.1038/s42003-019-0558-4. eCollection 2019. Commun Biol. 2019. PMID: 31508503 Free PMC article.
49 results