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Items: 11

1.

Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans.

Quilez J, Guilmatre A, Garg P, Highnam G, Gymrek M, Erlich Y, Joshi RS, Mittelman D, Sharp AJ.

Nucleic Acids Res. 2016 May 5;44(8):3750-62. doi: 10.1093/nar/gkw219. Epub 2016 Apr 7.

2.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ.

Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005.

3.

Tandem repeat variation in human and great ape populations and its impact on gene expression divergence.

Bilgin Sonay T, Carvalho T, Robinson MD, Greminger MP, Krützen M, Comas D, Highnam G, Mittelman D, Sharp A, Marques-Bonet T, Wagner A.

Genome Res. 2015 Nov;25(11):1591-9. doi: 10.1101/gr.190868.115. Epub 2015 Aug 19.

4.

Deep phylogenetic analysis of haplogroup G1 provides estimates of SNP and STR mutation rates on the human Y-chromosome and reveals migrations of Iranic speakers.

Balanovsky O, Zhabagin M, Agdzhoyan A, Chukhryaeva M, Zaporozhchenko V, Utevska O, Highnam G, Sabitov Z, Greenspan E, Dibirova K, Skhalyakho R, Kuznetsova M, Koshel S, Yusupov Y, Nymadawa P, Zhumadilov Z, Pocheshkhova E, Haber M, Zalloua PA, Yepiskoposyan L, Dybo A, Tyler-Smith C, Balanovska E.

PLoS One. 2015 Apr 7;10(4):e0122968. doi: 10.1371/journal.pone.0122968. eCollection 2015.

5.

An analytical framework for optimizing variant discovery from personal genomes.

Highnam G, Wang JJ, Kusler D, Zook J, Vijayan V, Leibovich N, Mittelman D.

Nat Commun. 2015 Feb 25;6:6275. doi: 10.1038/ncomms7275.

6.

A Burkholderia pseudomallei colony variant necessary for gastric colonization.

Austin CR, Goodyear AW, Bartek IL, Stewart A, Sutherland MD, Silva EB, Zweifel A, Vitko NP, Tuanyok A, Highnam G, Mittelman D, Keim P, Schweizer HP, Vázquez-Torres A, Dow SW, Voskuil MI.

MBio. 2015 Feb 3;6(1). pii: e02462-14. doi: 10.1128/mBio.02462-14.

7.

The landscape of human STR variation.

Willems T, Gymrek M, Highnam G; 1000 Genomes Project Consortium, Mittelman D, Erlich Y.

Genome Res. 2014 Nov;24(11):1894-904. doi: 10.1101/gr.177774.114. Epub 2014 Aug 18.

8.

Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines.

Huang W, Massouras A, Inoue Y, Peiffer J, Ràmia M, Tarone AM, Turlapati L, Zichner T, Zhu D, Lyman RF, Magwire MM, Blankenburg K, Carbone MA, Chang K, Ellis LL, Fernandez S, Han Y, Highnam G, Hjelmen CE, Jack JR, Javaid M, Jayaseelan J, Kalra D, Lee S, Lewis L, Munidasa M, Ongeri F, Patel S, Perales L, Perez A, Pu L, Rollmann SM, Ruth R, Saada N, Warner C, Williams A, Wu YQ, Yamamoto A, Zhang Y, Zhu Y, Anholt RR, Korbel JO, Mittelman D, Muzny DM, Gibbs RA, Barbadilla A, Johnston JS, Stone EA, Richards S, Deplancke B, Mackay TF.

Genome Res. 2014 Jul;24(7):1193-208. doi: 10.1101/gr.171546.113. Epub 2014 Apr 8.

9.

Rapid multiplexed genotyping of simple tandem repeats using capture and high-throughput sequencing.

Guilmatre A, Highnam G, Borel C, Mittelman D, Sharp AJ.

Hum Mutat. 2013 Sep;34(9):1304-11. doi: 10.1002/humu.22359. Epub 2013 Jun 17.

10.

Personal genomes and precision medicine.

Highnam G, Mittelman D.

Genome Biol. 2012 Dec 19;13(12):324. doi: 10.1186/gb-2012-13-12-324.

11.

Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles.

Highnam G, Franck C, Martin A, Stephens C, Puthige A, Mittelman D.

Nucleic Acids Res. 2013 Jan 7;41(1):e32. doi: 10.1093/nar/gks981. Epub 2012 Oct 22.

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