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Results: 1 to 20 of 46

1.

Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation.

Biagioli M, Ferrari F, Mendenhall EM, Zhang Y, Erdin S, Vijayvargia R, Vallabh SM, Solomos N, Manavalan P, Ragavendran A, Ozsolak F, Lee JM, Talkowski ME, Gusella JF, Macdonald ME, Park PJ, Seong IS.

Hum Mol Genet. 2015 Jan 8. pii: ddv006. [Epub ahead of print]

PMID:
25574027
[PubMed - as supplied by publisher]
2.

Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9.

Mandal PK, Ferreira LM, Collins R, Meissner TB, Boutwell CL, Friesen M, Vrbanac V, Garrison BS, Stortchevoi A, Bryder D, Musunuru K, Brand H, Tager AM, Allen TM, Talkowski ME, Rossi DJ, Cowan CA.

Cell Stem Cell. 2014 Nov 6;15(5):643-52. doi: 10.1016/j.stem.2014.10.004. Epub 2014 Nov 6.

PMID:
25517468
[PubMed - in process]
3.

Genomic and functional overlap between somatic and germline chromosomal rearrangements.

van Heesch S, Simonis M, van Roosmalen MJ, Pillalamarri V, Brand H, Kuijk EW, de Luca KL, Lansu N, Braat AK, Menelaou A, Hao W, Korving J, Snijder S, van der Veken LT, Hochstenbach R, Knegt AC, Duran K, Renkens I, Alekozai N, Jager M, Vergult S, Menten B, de Bruijn E, Boymans S, Ippel E, van Binsbergen E, Talkowski ME, Lichtenbelt K, Cuppen E, Kloosterman WP.

Cell Rep. 2014 Dec 24;9(6):2001-10. doi: 10.1016/j.celrep.2014.11.022. Epub 2014 Dec 11.

PMID:
25497101
[PubMed - in process]
Free Article
4.

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.

Sugathan A, Biagioli M, Golzio C, Erdin S, Blumenthal I, Manavalan P, Ragavendran A, Brand H, Lucente D, Miles J, Sheridan SD, Stortchevoi A, Kellis M, Haggarty SJ, Katsanis N, Gusella JF, Talkowski ME.

Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4468-77. doi: 10.1073/pnas.1405266111. Epub 2014 Oct 7.

PMID:
25294932
[PubMed - in process]
5.

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

Brand H, Pillalamarri V, Collins RL, Eggert S, O'Dushlaine C, Braaten EB, Stone MR, Chambert K, Doty ND, Hanscom C, Rosenfeld JA, Ditmars H, Blais J, Mills R, Lee C, Gusella JF, McCarroll S, Smoller JW, Talkowski ME, Doyle AE.

Am J Hum Genet. 2014 Oct 2;95(4):454-61. doi: 10.1016/j.ajhg.2014.09.005.

PMID:
25279985
[PubMed - indexed for MEDLINE]
6.

Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing.

Veres A, Gosis BS, Ding Q, Collins R, Ragavendran A, Brand H, Erdin S, Cowan CA, Talkowski ME, Musunuru K.

Cell Stem Cell. 2014 Jul 3;15(1):27-30. doi: 10.1016/j.stem.2014.04.020. Erratum in: Cell Stem Cell. 2014 Aug 7;15(2):254. Cowan, Chad A [added].

PMID:
24996167
[PubMed - in process]
7.

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.

PMID:
24906019
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.

Ordulu Z, Wong KE, Currall BB, Ivanov AR, Pereira S, Althari S, Gusella JF, Talkowski ME, Morton CC.

Am J Hum Genet. 2014 May 1;94(5):695-709. doi: 10.1016/j.ajhg.2014.03.020. Epub 2014 Apr 17.

PMID:
24746958
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes.

Talkowski ME, Minikel EV, Gusella JF.

Harv Rev Psychiatry. 2014 Mar-Apr;22(2):65-75. doi: 10.1097/HRP.0000000000000002. Review.

PMID:
24614762
[PubMed - indexed for MEDLINE]
10.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW.

Hum Mol Genet. 2014 May 15;23(10):2752-68. doi: 10.1093/hmg/ddt669. Epub 2013 Dec 30.

PMID:
24381304
[PubMed - indexed for MEDLINE]
11.

Mechanisms for Structural Variation in the Human Genome.

Currall BB, Chiang C, Talkowski ME, Morton CC.

Curr Genet Med Rep. 2013 Jun 1;1(2):81-90.

PMID:
23730541
[PubMed]
Free PMC Article
12.

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. doi: 10.1038/ejhg.2013.67. Epub 2013 May 1.

PMID:
23632792
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Bahl S, Chiang C, Beauchamp RL, Neale BM, Daly MJ, Gusella JF, Talkowski ME, Ramesh V.

Mol Autism. 2013 Mar 20;4(1):5. doi: 10.1186/2040-2392-4-5.

PMID:
23514105
[PubMed]
Free PMC Article
14.

Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.

Chen X, Shen Y, Zhang F, Chiang C, Pillalamarri V, Blumenthal I, Talkowski M, Wu BL, Gusella JF.

Am J Hum Genet. 2013 Mar 7;92(3):375-86. doi: 10.1016/j.ajhg.2013.02.006.

PMID:
23472757
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.

Lindgren AM, Hoyos T, Talkowski ME, Hanscom C, Blumenthal I, Chiang C, Ernst C, Pereira S, Ordulu Z, Clericuzio C, Drautz JM, Rosenfeld JA, Shaffer LG, Velsher L, Pynn T, Vermeesch J, Harris DJ, Gusella JF, Liao EC, Morton CC.

Hum Genet. 2013 May;132(5):537-52. doi: 10.1007/s00439-013-1263-x. Epub 2013 Jan 25.

PMID:
23354975
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA.

Am J Hum Genet. 2013 Feb 7;92(2):210-20. doi: 10.1016/j.ajhg.2012.12.011. Epub 2013 Jan 17.

PMID:
23332918
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Mosaic copy number variation in schizophrenia.

Ruderfer DM, Chambert K, Moran J, Talkowski M, Chen ES, Gigek C, Gusella JF, Blackwood DH, Corvin A, Gurling HM, Hultman CM, Kirov G, Magnusson P, O'Donovan MC, Owen MJ, Pato C, St Clair D, Sullivan PF, Purcell SM, Sklar P, Ernst C.

Eur J Hum Genet. 2013 Sep;21(9):1007-11. doi: 10.1038/ejhg.2012.287. Epub 2013 Jan 16.

PMID:
23321615
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.

Talkowski ME, Maussion G, Crapper L, Rosenfeld JA, Blumenthal I, Hanscom C, Chiang C, Lindgren A, Pereira S, Ruderfer D, Diallo AB, Lopez JP, Turecki G, Chen ES, Gigek C, Harris DJ, Lip V, An Y, Biagioli M, Macdonald ME, Lin M, Haggarty SJ, Sklar P, Purcell S, Kellis M, Schwartz S, Shaffer LG, Natowicz MR, Shen Y, Morton CC, Gusella JF, Ernst C.

Am J Hum Genet. 2012 Dec 7;91(6):1128-34. doi: 10.1016/j.ajhg.2012.10.016.

PMID:
23217328
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Clinical diagnosis by whole-genome sequencing of a prenatal sample.

Talkowski ME, Ordulu Z, Pillalamarri V, Benson CB, Blumenthal I, Connolly S, Hanscom C, Hussain N, Pereira S, Picker J, Rosenfeld JA, Shaffer LG, Wilkins-Haug LE, Gusella JF, Morton CC.

N Engl J Med. 2012 Dec 6;367(23):2226-32. doi: 10.1056/NEJMoa1208594.

PMID:
23215558
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity.

Ernst C, Marshall CR, Shen Y, Metcalfe K, Rosenfeld J, Hodge JC, Torres A, Blumenthal I, Chiang C, Pillalamarri V, Crapper L, Diallo AB, Ruderfer D, Pereira S, Sklar P, Purcell S, Wildin RS, Spencer AC, Quade BF, Harris DJ, Lemyre E, Wu BL, Stavropoulos DJ, Geraghty MT, Shaffer LG, Morton CC, Scherer SW, Gusella JF, Talkowski ME.

Arch Gen Psychiatry. 2012 Dec;69(12):1238-46. doi: 10.1001/archgenpsychiatry.2012.660.

PMID:
23044507
[PubMed]
Free PMC Article
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