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2016
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
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
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
2014
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
Abstract
2012
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
Abstract
  • Showing 1-5 of 5 Results