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Page 1
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. Talkowski ME, et al. Among authors: pillalamarri v. N Engl J Med. 2012 Dec 6;367(23):2226-32. doi: 10.1056/NEJMoa1208594. N Engl J Med. 2012. PMID: 23215558 Free PMC article.
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, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF. Talkowski ME, et al. Among authors: pillalamarri v. Cell. 2012 Apr 27;149(3):525-37. doi: 10.1016/j.cell.2012.03.028. Epub 2012 Apr 19. Cell. 2012. PMID: 22521361 Free PMC article.
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. Ernst C, et al. Among authors: pillalamarri v. Arch Gen Psychiatry. 2012 Dec;69(12):1238-46. doi: 10.1001/archgenpsychiatry.2012.660. Arch Gen Psychiatry. 2012. PMID: 23044507 Free PMC article.
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.
Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME. Hodge JC, et al. Among authors: pillalamarri v. Mol Psychiatry. 2014 Mar;19(3):368-79. doi: 10.1038/mp.2013.42. Epub 2013 Apr 16. Mol Psychiatry. 2014. PMID: 23587880 Free PMC article.
Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing.
Macera MJ, Sobrino A, Levy B, Jobanputra V, Aggarwal V, Mills A, Esteves C, Hanscom C, Pereira S, Pillalamarri V, Ordulu Z, Morton CC, Talkowski M, Warburton D. Macera MJ, et al. Among authors: pillalamarri v. Prenat Diagn. 2015 Mar;35(3):299-301. doi: 10.1002/pd.4456. Epub 2015 Feb 4. Prenat Diagn. 2015. PMID: 25043231 Free PMC article. No abstract available.
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. Brand H, et al. Among authors: pillalamarri v. Am J Hum Genet. 2014 Oct 2;95(4):454-61. doi: 10.1016/j.ajhg.2014.09.005. Am J Hum Genet. 2014. PMID: 25279985 Free PMC article.
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. van Heesch S, et al. Among authors: pillalamarri v. Cell Rep. 2014 Dec 24;9(6):2001-10. doi: 10.1016/j.celrep.2014.11.022. Epub 2014 Dec 11. Cell Rep. 2014. PMID: 25497101 Free article.
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, Talkowski ME. Brand H, et al. Among authors: pillalamarri v. Am J Hum Genet. 2015 Jul 2;97(1):170-6. doi: 10.1016/j.ajhg.2015.05.012. Epub 2015 Jun 18. Am J Hum Genet. 2015. PMID: 26094575 Free PMC article.
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, Zepeda CJ, Gusella JF, Talkowski ME, Morton CC, Maas RL, Liao EC. Mukherjee K, et al. Among authors: pillalamarri v. Hum Mol Genet. 2016 Apr 1;25(7):1255-70. doi: 10.1093/hmg/ddw006. Epub 2016 Jan 11. Hum Mol Genet. 2016. PMID: 26758871 Free PMC article.
27 results