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Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, Campbell C, Sanlaville D, Lefroy H, Richetin S, Pain A, Geneviève D, Kini U, Le Caignec C, Lespinasse J, Skytte AB, Isidor B, Zweier C, Caberg JH, Delrue MA, Møller RS, Bojesen A, Hjalgrim H, Brasch-Andersen C, Lemyre E, Ousager LB, Jacquemont S; 15q11.2 Working Group. Jønch AE, et al. Among authors: richetin s. J Med Genet. 2019 Oct;56(10):701-710. doi: 10.1136/jmedgenet-2018-105879. Epub 2019 Aug 26. J Med Genet. 2019. PMID: 31451536 Free PMC article.
Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence.
Kopal J, Kumar K, Saltoun K, Modenato C, Moreau CA, Martin-Brevet S, Huguet G, Jean-Louis M, Martin CO, Saci Z, Younis N, Tamer P, Douard E, Maillard AM, Rodriguez-Herreros B, Pain A, Richetin S, Kushan L, Silva AI, van den Bree MBM, Linden DEJ, Owen MJ, Hall J, Lippé S, Draganski B, Sønderby IE, Andreassen OA, Glahn DC, Thompson PM, Bearden CE, Jacquemont S, Bzdok D. Kopal J, et al. Among authors: richetin s. Nat Hum Behav. 2023 Jun;7(6):1001-1017. doi: 10.1038/s41562-023-01541-9. Epub 2023 Mar 2. Nat Hum Behav. 2023. PMID: 36864136 Free PMC article.
Subcortical brain alterations in carriers of genomic copy number variants.
Kumar K, Modenato C, Moreau C, Ching CRK, Harvey A, Martin-Brevet S, Huguet G, Jean-Louis M, Douard E, Martin CO, Younis N, Tamer P, Maillard AM, Rodriguez-Herreros B, Pain A, Richetin S; 16p11.2 European Consortium, Simons Searchlight Consortium; Kushan L, Isaev D, Alpert K, Ragothaman A, Turner JA, Wang L, Ho TC, Schmaal L, Silva AI, van den Bree MBM, Linden DEJ, Owen MJ, Hall J, Lippé S, Dumas G, Draganski B, Gutman BA, Sønderby IE, Andreassen OA, Schultz L, Almasy L, Glahn DC, Bearden CE, Thompson PM, Jacquemont S. Kumar K, et al. Among authors: richetin s. medRxiv [Preprint]. 2023 Feb 22:2023.02.14.23285913. doi: 10.1101/2023.02.14.23285913. medRxiv. 2023. PMID: 36865328 Free PMC article. Updated. Preprint.
Sex differences in sensory processing in children with autism spectrum disorder.
Osório JMA, Rodríguez-Herreros B, Richetin S, Junod V, Romascano D, Pittet V, Chabane N, Jequier Gygax M, Maillard AM. Osório JMA, et al. Among authors: richetin s. Autism Res. 2021 Nov;14(11):2412-2423. doi: 10.1002/aur.2580. Epub 2021 Jul 20. Autism Res. 2021. PMID: 34288517 Free PMC article.
Effects of eight neuropsychiatric copy number variants on human brain structure.
Modenato C, Kumar K, Moreau C, Martin-Brevet S, Huguet G, Schramm C, Jean-Louis M, Martin CO, Younis N, Tamer P, Douard E, Thébault-Dagher F, Côté V, Charlebois AR, Deguire F, Maillard AM, Rodriguez-Herreros B, Pain A, Richetin S; 16p11.2 European Consortium; Simons Searchlight Consortium; Melie-Garcia L, Kushan L, Silva AI, van den Bree MBM, Linden DEJ, Owen MJ, Hall J, Lippé S, Chakravarty M, Bzdok D, Bearden CE, Draganski B, Jacquemont S. Modenato C, et al. Among authors: richetin s. Transl Psychiatry. 2021 Jul 20;11(1):399. doi: 10.1038/s41398-021-01490-9. Transl Psychiatry. 2021. PMID: 34285187 Free PMC article.
Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11.2 deletion.
Maillard AM, Romascano D, Villalón-Reina JE, Moreau CA, Almeida Osório JM, Richetin S, Junod V, Yu P, Misic B, Thompson PM, Fornari E, Gygax MJ, Jacquemont S, Chabane N, Rodríguez-Herreros B. Maillard AM, et al. Among authors: richetin s. Transl Psychiatry. 2024 Feb 14;14(1):95. doi: 10.1038/s41398-024-02810-5. Transl Psychiatry. 2024. PMID: 38355713 Free PMC article.
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.
Martin-Brevet S, Rodríguez-Herreros B, Nielsen JA, Moreau C, Modenato C, Maillard AM, Pain A, Richetin S, Jønch AE, Qureshi AY, Zürcher NR, Conus P; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium; Chung WK, Sherr EH, Spiro JE, Kherif F, Beckmann JS, Hadjikhani N, Reymond A, Buckner RL, Draganski B, Jacquemont S. Martin-Brevet S, et al. Among authors: richetin s. Biol Psychiatry. 2018 Aug 15;84(4):253-264. doi: 10.1016/j.biopsych.2018.02.1176. Epub 2018 Mar 27. Biol Psychiatry. 2018. PMID: 29778275 Free article.