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Clinical phenotype of the recurrent 1q21.1 copy-number variant.
Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, Ramocki MB, Evans DW, Spiro JE, Martin CL, Ledbetter DH, Chung WK; Simons VIP consortium. Bernier R, et al. Among authors: earl r. Genet Med. 2016 Apr;18(4):341-9. doi: 10.1038/gim.2015.78. Epub 2015 Jun 11. Genet Med. 2016. PMID: 26066539 Free PMC article.
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium. D'Angelo D, et al. JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123. JAMA Psychiatry. 2016. PMID: 26629640 Free PMC article.
Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.
Green Snyder L, D'Angelo D, Chen Q, Bernier R, Goin-Kochel RP, Wallace AS, Gerdts J, Kanne S, Berry L, Blaskey L, Kuschner E, Roberts T, Sherr E, Martin CL, Ledbetter DH, Spiro JE, Chung WK, Hanson E; Simons VIP consortium. Green Snyder L, et al. J Autism Dev Disord. 2016 Aug;46(8):2734-2748. doi: 10.1007/s10803-016-2807-4. J Autism Dev Disord. 2016. PMID: 27207092
Developmental trajectories for young children with 16p11.2 copy number variation.
Bernier R, Hudac CM, Chen Q, Zeng C, Wallace AS, Gerdts J, Earl R, Peterson J, Wolken A, Peters A, Hanson E, Goin-Kochel RP, Kanne S, Snyder LG, Chung WK; Simons VIP consortium. Bernier R, et al. Among authors: earl r. Am J Med Genet B Neuropsychiatr Genet. 2017 Jun;174(4):367-380. doi: 10.1002/ajmg.b.32525. Epub 2017 Mar 27. Am J Med Genet B Neuropsychiatr Genet. 2017. PMID: 28349640
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.
Earl RK, Turner TN, Mefford HC, Hudac CM, Gerdts J, Eichler EE, Bernier RA. Earl RK, et al. Mol Autism. 2017 Oct 5;8:54. doi: 10.1186/s13229-017-0173-5. eCollection 2017. Mol Autism. 2017. PMID: 29034068 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. 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.
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.
Giannuzzi G, Schmidt PJ, Porcu E, Willemin G, Munson KM, Nuttle X, Earl R, Chrast J, Hoekzema K, Risso D, Männik K, De Nittis P, Baratz ED; 16p11.2 Consortium; Herault Y, Gao X, Philpott CC, Bernier RA, Kutalik Z, Fleming MD, Eichler EE, Reymond A. Giannuzzi G, et al. Among authors: earl r. Am J Hum Genet. 2019 Nov 7;105(5):947-958. doi: 10.1016/j.ajhg.2019.09.023. Epub 2019 Oct 24. Am J Hum Genet. 2019. PMID: 31668704 Free PMC article.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Fai… See abstract for full author list ➔ Radio FC, et al. Among authors: earl rk. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
117 results