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5. 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; Biol Psychiatry; 2015 May; 77(9):785-93. PubMed ID: 25064419 [TBL] [Abstract][Full Text] [Related]
6. 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 Am J Med Genet B Neuropsychiatr Genet; 2020 Sep; 183(6):380-391. PubMed ID: 32652891 [TBL] [Abstract][Full Text] [Related]
7. Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2. Van der Aa N; Vandeweyer G; Reyniers E; Kenis S; Dom L; Mortier G; Rooms L; Kooy RF Autism Res; 2012 Aug; 5(4):277-81. PubMed ID: 22689534 [TBL] [Abstract][Full Text] [Related]
8. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. Fernandez BA; Roberts W; Chung B; Weksberg R; Meyn S; Szatmari P; Joseph-George AM; Mackay S; Whitten K; Noble B; Vardy C; Crosbie V; Luscombe S; Tucker E; Turner L; Marshall CR; Scherer SW J Med Genet; 2010 Mar; 47(3):195-203. PubMed ID: 19755429 [TBL] [Abstract][Full Text] [Related]
13. 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; ; ; JAMA Psychiatry; 2016 Jan; 73(1):20-30. PubMed ID: 26629640 [TBL] [Abstract][Full Text] [Related]
14. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. Battaglia A; Doccini V; Bernardini L; Novelli A; Loddo S; Capalbo A; Filippi T; Carey JC Eur J Paediatr Neurol; 2013 Nov; 17(6):589-99. PubMed ID: 23711909 [TBL] [Abstract][Full Text] [Related]
15. Association between microdeletion and microduplication at 16p11.2 and autism. Weiss LA; Shen Y; Korn JM; Arking DE; Miller DT; Fossdal R; Saemundsen E; Stefansson H; Ferreira MA; Green T; Platt OS; Ruderfer DM; Walsh CA; Altshuler D; Chakravarti A; Tanzi RE; Stefansson K; Santangelo SL; Gusella JF; Sklar P; Wu BL; Daly MJ; N Engl J Med; 2008 Feb; 358(7):667-75. PubMed ID: 18184952 [TBL] [Abstract][Full Text] [Related]
16. Narrowing the critical deletion region for autism spectrum disorders on 16p11.2. Crepel A; Steyaert J; De la Marche W; De Wolf V; Fryns JP; Noens I; Devriendt K; Peeters H Am J Med Genet B Neuropsychiatr Genet; 2011 Mar; 156(2):243-5. PubMed ID: 21302354 [No Abstract] [Full Text] [Related]
17. 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; J Autism Dev Disord; 2016 Aug; 46(8):2734-2748. PubMed ID: 27207092 [TBL] [Abstract][Full Text] [Related]
18. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. Mullegama SV; Rosenfeld JA; Orellana C; van Bon BW; Halbach S; Repnikova EA; Brick L; Li C; Dupuis L; Rosello M; Aradhya S; Stavropoulos DJ; Manickam K; Mitchell E; Hodge JC; Talkowski ME; Gusella JF; Keller K; Zonana J; Schwartz S; Pyatt RE; Waggoner DJ; Shaffer LG; Lin AE; de Vries BB; Mendoza-Londono R; Elsea SH Eur J Hum Genet; 2014 Jan; 22(1):57-63. PubMed ID: 23632792 [TBL] [Abstract][Full Text] [Related]
19. Atypical neural variability in carriers of 16p11.2 copy number variants. Al-Jawahiri R; Jones M; Milne E Autism Res; 2019 Sep; 12(9):1322-1333. PubMed ID: 31260176 [TBL] [Abstract][Full Text] [Related]
20. Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature. Lengyel A; Pinti É; Pikó H; Jávorszky E; David D; Tihanyi M; Gönczi É; Kiss E; Tóth Z; Tory K; Fekete G; Haltrich I Eur J Med Genet; 2020 Oct; 63(10):104027. PubMed ID: 32758661 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]