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Items: 1 to 20 of 151

1.

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.

Blumenthal I, Ragavendran A, Erdin S, Klei L, Sugathan A, Guide JR, Manavalan P, Zhou JQ, Wheeler VC, Levin JZ, Ernst C, Roeder K, Devlin B, Gusella JF, Talkowski ME.

Am J Hum Genet. 2014 Jun 5;94(6):870-83. doi: 10.1016/j.ajhg.2014.05.004.

2.

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.

Hippolyte L, Maillard AM, Rodriguez-Herreros B, Pain A, Martin-Brevet S, Ferrari C, Conus P, Macé A, Hadjikhani N, Metspalu A, Reigo A, Kolk A, Männik K, Barker M, Isidor B, Le Caignec C, Mignot C, Schneider L, Mottron L, Keren B, David A, Doco-Fenzy M, Gérard M, Bernier R, Goin-Kochel RP, Hanson E, Green Snyder L; 16p11.2 European Consortium, Simons Variation in Individuals Project Consortium, Ramus F, Beckmann JS, Draganski B, Reymond A, Jacquemont S.

Biol Psychiatry. 2016 Jul 15;80(2):129-139. doi: 10.1016/j.biopsych.2015.10.021. Epub 2015 Nov 10.

3.

16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.

Barber JC, Hall V, Maloney VK, Huang S, Roberts AM, Brady AF, Foulds N, Bewes B, Volleth M, Liehr T, Mehnert K, Bateman M, White H.

Eur J Hum Genet. 2013 Feb;21(2):182-9. doi: 10.1038/ejhg.2012.144. Epub 2012 Jul 25.

4.

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.

JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123.

PMID:
26629640
5.

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.

Tabet AC, Pilorge M, Delorme R, Amsellem F, Pinard JM, Leboyer M, Verloes A, Benzacken B, Betancur C.

Eur J Hum Genet. 2012 May;20(5):540-6. doi: 10.1038/ejhg.2011.244. Epub 2012 Jan 11. Erratum in: Eur J Hum Genet. 2012 May;20(5):594.

6.

Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes.

Blaker-Lee A, Gupta S, McCammon JM, De Rienzo G, Sive H.

Dis Model Mech. 2012 Nov;5(6):834-51. doi: 10.1242/dmm.009944. Epub 2012 May 1.

7.

Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication.

Jenkins J 3rd, Chow V, Blaskey L, Kuschner E, Qasmieh S, Gaetz L, Edgar JC, Mukherjee P, Buckner R, Nagarajan SS, Chung WK, Spiro JE, Sherr EH, Berman JI, Roberts TP.

Cereb Cortex. 2016 May;26(5):1957-64. doi: 10.1093/cercor/bhv008. Epub 2015 Feb 11.

PMID:
25678630
8.

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR.

J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12.

9.

Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism.

Horev G, Ellegood J, Lerch JP, Son YE, Muthuswamy L, Vogel H, Krieger AM, Buja A, Henkelman RM, Wigler M, Mills AA.

Proc Natl Acad Sci U S A. 2011 Oct 11;108(41):17076-81. doi: 10.1073/pnas.1114042108. Epub 2011 Oct 3.

10.

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; Autism Consortium.

N Engl J Med. 2008 Feb 14;358(7):667-75. doi: 10.1056/NEJMoa075974. Epub 2008 Jan 9.

11.

Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity.

Ciuladaitė Z, Kasnauskienė J, Cimbalistienė L, Preikšaitienė E, Patsalis PC, Kučinskas V.

J Appl Genet. 2011 Nov;52(4):443-9. doi: 10.1007/s13353-011-0063-z. Epub 2011 Sep 20. No abstract available.

PMID:
21931978
12.

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. doi: 10.1136/jmg.2009.069369. Epub 2009 Sep 15.

PMID:
19755429
13.

Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.

Duyzend MH, Nuttle X, Coe BP, Baker C, Nickerson DA, Bernier R, Eichler EE.

Am J Hum Genet. 2016 Jan 7;98(1):45-57. doi: 10.1016/j.ajhg.2015.11.017. Epub 2015 Dec 31.

14.

The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles.

Kusenda M, Vacic V, Malhotra D, Rodgers L, Pavon K, Meth J, Kumar RA, Christian SL, Peeters H, Cho SS, Addington A, Rapoport JL, Sebat J.

J Child Neurol. 2015 Dec;30(14):1947-53. doi: 10.1177/0883073815602066. Epub 2015 Sep 20.

15.

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.

Golzio C, Willer J, Talkowski ME, Oh EC, Taniguchi Y, Jacquemont S, Reymond A, Sun M, Sawa A, Gusella JF, Kamiya A, Beckmann JS, Katsanis N.

Nature. 2012 May 16;485(7398):363-7. doi: 10.1038/nature11091.

16.

Recurrent 16p11.2 microdeletions in autism.

Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH Jr, Dobyns WB, Christian SL.

Hum Mol Genet. 2008 Feb 15;17(4):628-38. Epub 2007 Dec 21.

PMID:
18156158
17.

Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome.

Portmann T, Yang M, Mao R, Panagiotakos G, Ellegood J, Dolen G, Bader PL, Grueter BA, Goold C, Fisher E, Clifford K, Rengarajan P, Kalikhman D, Loureiro D, Saw NL, Zhengqui Z, Miller MA, Lerch JP, Henkelman M, Shamloo M, Malenka RC, Crawley JN, Dolmetsch RE.

Cell Rep. 2014 May 22;7(4):1077-1092. doi: 10.1016/j.celrep.2014.03.036. Epub 2014 May 1.

18.

The 16p11.2 deletion mouse model of autism exhibits altered cortical progenitor proliferation and brain cytoarchitecture linked to the ERK MAPK pathway.

Pucilowska J, Vithayathil J, Tavares EJ, Kelly C, Karlo JC, Landreth GE.

J Neurosci. 2015 Feb 18;35(7):3190-200. doi: 10.1523/JNEUROSCI.4864-13.2015.

19.

Opposing brain differences in 16p11.2 deletion and duplication carriers.

Qureshi AY, Mueller S, Snyder AZ, Mukherjee P, Berman JI, Roberts TP, Nagarajan SS, Spiro JE, Chung WK, Sherr EH, Buckner RL; Simons VIP Consortium.

J Neurosci. 2014 Aug 20;34(34):11199-211. doi: 10.1523/JNEUROSCI.1366-14.2014.

20.

Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes.

Arbogast T, Ouagazzal AM, Chevalier C, Kopanitsa M, Afinowi N, Migliavacca E, Cowling BS, Birling MC, Champy MF, Reymond A, Herault Y.

PLoS Genet. 2016 Feb 12;12(2):e1005709. doi: 10.1371/journal.pgen.1005709. eCollection 2016 Feb.

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