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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: hanson e. 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.
The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.
Hanson E, Bernier R, Porche K, Jackson FI, Goin-Kochel RP, Snyder LG, Snow AV, Wallace AS, Campe KL, Zhang Y, Chen Q, D'Angelo D, Moreno-De-Luca A, Orr PT, Boomer KB, Evans DW, Kanne S, Berry L, Miller FK, Olson J, Sherr E, Martin CL, Ledbetter DH, Spiro JE, Chung WK; Simons Variation in Individuals Project Consortium. Hanson E, et al. Biol Psychiatry. 2015 May 1;77(9):785-93. doi: 10.1016/j.biopsych.2014.04.021. Epub 2014 Jun 16. Biol Psychiatry. 2015. PMID: 25064419 Free PMC article.
The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.
Moreno-De-Luca A, Evans DW, Boomer KB, Hanson E, Bernier R, Goin-Kochel RP, Myers SM, Challman TD, Moreno-De-Luca D, Slane MM, Hare AE, Chung WK, Spiro JE, Faucett WA, Martin CL, Ledbetter DH. Moreno-De-Luca A, et al. Among authors: hanson e. JAMA Psychiatry. 2015 Feb;72(2):119-26. doi: 10.1001/jamapsychiatry.2014.2147. JAMA Psychiatry. 2015. PMID: 25493922
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. Among authors: hanson e. 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. Among authors: hanson e. 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: hanson e. 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
Language characterization in 16p11.2 deletion and duplication syndromes.
Kim SH, Green-Snyder L, Lord C, Bishop S, Steinman KJ, Bernier R, Hanson E, Goin-Kochel RP, Chung WK. Kim SH, et al. Among authors: hanson e. Am J Med Genet B Neuropsychiatr Genet. 2020 Sep;183(6):380-391. doi: 10.1002/ajmg.b.32809. Epub 2020 Jul 11. Am J Med Genet B Neuropsychiatr Genet. 2020. PMID: 32652891 Free PMC article.
Psychiatric disorders in children with 16p11.2 deletion and duplication.
Niarchou M, Chawner SJRA, Doherty JL, Maillard AM, Jacquemont S, Chung WK, Green-Snyder L, Bernier RA, Goin-Kochel RP, Hanson E, Linden DEJ, Linden SC, Raymond FL, Skuse D, Hall J, Owen MJ, Bree MBMVD. Niarchou M, et al. Among authors: hanson e. Transl Psychiatry. 2019 Jan 16;9(1):8. doi: 10.1038/s41398-018-0339-8. Transl Psychiatry. 2019. PMID: 30664628 Free PMC article.
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium. Zufferey F, et al. Among authors: hanson e. J Med Genet. 2012 Oct;49(10):660-8. doi: 10.1136/jmedgenet-2012-101203. J Med Genet. 2012. PMID: 23054248 Free PMC article.
708 results