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2016
Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9.Shin, JW, Kim KH, Chao MJ, Atwal RS, Gillis T., Macdonald ME, Gusella JF, and Lee JM Human molecular genetics, 2016/09/15, (2016) Read More / View Supplemental Materials
Abstract
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay.Schilit, SL, Currall BB, Yao R., Hanscom C., Collins RL, Pillalamarri V., Lee DY, Kammin T., Zepeda-Mendoza CJ, Mononen T., Nolan LS, Gusella JF, Talkowski ME, Shen J., and Morton CC European journal of human genetics : EJHG, 2016/07/06, (2016) Read More / View Supplemental Materials
Abstract
CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.Eichler, FS, Li J., Guo Y., Caruso PA, Bjonnes AC, Pan J., Booker JK, Lane JM, Tare A., Vlasac I., Hakonarson H., Gusella JF, Zhang J., Keating BJ, and Saxena R. Brain : a journal of neurology, 2016/05/05, (2016) Read More / View Supplemental Materials
Abstract
The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease.Keum, JW, Shin A., Gillis T., Mysore JS, Abu Elneel K., Lucente D., Hadzi T., Holmans P., Jones L., Orth M., Kwak S., Macdonald ME, Gusella JF, and Lee JM American journal of human genetics, 2016/02/04, Volume 98, Issue 2, p.287-98, (2016) Read More / View Supplemental Materials
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Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.Tai, DJ, Ragavendran A., Manavalan P., Stortchevoi A., Seabra CM, Erdin S., Collins RL, Blumenthal I., Chen X., Shen Y., Sahin M., Zhang C., Lee C., Gusella JF, and Talkowski ME Nature neuroscience, 2016/02/01, (2016) Read More / View Supplemental Materials
Abstract
Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis.Mukherjee, K., Ishii K., Pillalamarri V., Kammin T., Atkin JF, Hickey SE, Xi QJ, Gusella JF, Talkowski ME, Morton CC, Maas RL, and Liao EC Human molecular genetics, 2016/01/11, (2016) Read More / View Supplemental Materials
Abstract
2015
The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease.Correia, K., Harold D., Kim KH, Holmans P., Jones L., Orth M., Myers RH, Kwak S., Wheeler VC, Macdonald ME, Gusella JF, and Lee JM Journal of Huntington's disease, 2015/09/29, Volume 4, Issue 3, p.279-84, (2015) Read More / View Supplemental Materials
Abstract
Sequence-Level Analysis of the Major European Huntington Disease Haplotype.Lee, JM, Kim KH, Shin A., Chao MJ, Abu Elneel K., Gillis T., Mysore JS, Kaye JA, Zahed H., Kratter IH, Daub AC, Finkbeiner S., Li H., Roach JC, Goodman N., Hood L., Myers RH, Macdonald ME, and Gusella JF American journal of human genetics, 2015/09/03, Volume 97, Issue 3, p.435-44, (2015) Read More / View Supplemental Materials
Abstract
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.Brand, H., Collins RL, Hanscom C., Rosenfeld JA, Pillalamarri V., Stone MR, Kelley F., Mason T., Margolin L., Eggert S., Mitchell E., Hodge JC, Gusella JF, Sanders SJ, and Talkowski ME American journal of human genetics, 2015/06/17, (2015) Read More / View Supplemental Materials
Abstract
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.Migliavacca, E., Golzio C., Männik K., Blumenthal I., Oh EC, Harewood L., Kosmicki JA, Loviglio MN, Giannuzzi G., Hippolyte L., Maillard AM, Alfaiz AA, 16p11.2 European Consortium, van Haelst MM, Andrieux J., Gusella JF, Daly M. J., Beckmann JS, Jacquemont S., Talkowski ME, et al. American journal of human genetics, 2015/05/07, Volume 96, Issue 5, p.784-96, (2015) Read More / View Supplemental Materials
Abstract
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, and Seong IS Human molecular genetics, 2015/01/08, (2015) Read More / View Supplemental Materials
Abstract
2014
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, and Talkowski ME Proceedings of the National Academy of Sciences of the United States of America, 2014/10/21, Volume 111, Issue 42, p.E4468-77, (2014) Read More / View Supplemental Materials
Abstract
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, and Doyle AE American journal of human genetics, 2014/10/02, Volume 95, Issue 4, p.454-61, (2014) Read More / View Supplemental Materials
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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, and Talkowski ME American journal of human genetics, 2014/06/05, Volume 94, Issue 6, p.870-83, (2014) Read More / View Supplemental Materials
Abstract
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, and Morton CC American journal of human genetics, 2014/04/16, (2014) Read More / View Supplemental Materials
Abstract
2013
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., et al. European journal of human genetics : EJHG, 2013/01/16, (2013) Read More / View Supplemental Materials
Abstract
2012
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, et al. American journal of human genetics, 2012/12/07, Volume 91, Issue 6, p.1128-34, (2012) Read More / View Supplemental Materials
Abstract
Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries.Talkowski, ME, Rosenfeld JA, Blumenthal I., Pillalamarri V., Chiang C., Heilbut A., Ernst C., Hanscom C., Rossin E., Lindgren AM, Pereira S., Ruderfer D., Kirby A., Ripke S., Harris DJ, Lee JH, Ha K., Kim HG, Solomon BD, Gropman AL, et al. Cell, 2012/04/27, Volume 149, Issue 3, p.525-37, (2012) Read More / View Supplemental Materials
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Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region.Lee, JM, Gillis T., Mysore JS, Ramos EM, Myers RH, Hayden MR, Morrison PJ, Nance M., Ross CA, Margolis RL, Squitieri F., Griguoli A., Di Donato S., Gomez-Tortosa E., Ayuso C., Suchowersky O., Trent RJ, McCusker E., Novelletto A., Frontali M., et al. American journal of human genetics, 2012/03/09, Volume 90, Issue 3, p.434-444, (2012) Read More / View Supplemental Materials
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  • Showing 1-19 of 19 Results