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Items: 16

1.

High-resolution comparative analysis of great ape genomes.

Kronenberg ZN, Fiddes IT, Gordon D, Murali S, Cantsilieris S, Meyerson OS, Underwood JG, Nelson BJ, Chaisson MJP, Dougherty ML, Munson KM, Hastie AR, Diekhans M, Hormozdiari F, Lorusso N, Hoekzema K, Qiu R, Clark K, Raja A, Welch AE, Sorensen M, Baker C, Fulton RS, Armstrong J, Graves-Lindsay TA, Denli AM, Hoppe ER, Hsieh P, Hill CM, Pang AWC, Lee J, Lam ET, Dutcher SK, Gage FH, Warren WC, Shendure J, Haussler D, Schneider VA, Cao H, Ventura M, Wilson RK, Paten B, Pollen A, Eichler EE.

Science. 2018 Jun 8;360(6393). pii: eaar6343. doi: 10.1126/science.aar6343.

2.

Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.

Cantsilieris S, Nelson BJ, Huddleston J, Baker C, Harshman L, Penewit K, Munson KM, Sorensen M, Welch AE, Dang V, Grassmann F, Richardson AJ, Guymer RH, Graves-Lindsay TA, Wilson RK, Weber BHF, Baird PN, Allikmets R, Eichler EE.

Proc Natl Acad Sci U S A. 2018 May 8;115(19):E4433-E4442. doi: 10.1073/pnas.1717600115. Epub 2018 Apr 23.

3.

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.

Aneichyk T, Hendriks WT, Yadav R, Shin D, Gao D, Vaine CA, Collins RL, Domingo A, Currall B, Stortchevoi A, Multhaupt-Buell T, Penney EB, Cruz L, Dhakal J, Brand H, Hanscom C, Antolik C, Dy M, Ragavendran A, Underwood J, Cantsilieris S, Munson KM, Eichler EE, Acuña P, Go C, Jamora RDG, Rosales RL, Church DM, Williams SR, Garcia S, Klein C, Müller U, Wilhelmsen KC, Timmers HTM, Sapir Y, Wainger BJ, Henderson D, Ito N, Weisenfeld N, Jaffe D, Sharma N, Breakefield XO, Ozelius LJ, Bragg DC, Talkowski ME.

Cell. 2018 Feb 22;172(5):897-909.e21. doi: 10.1016/j.cell.2018.02.011.

PMID:
29474918
4.

The evolution and population diversity of human-specific segmental duplications.

Dennis MY, Harshman L, Nelson BJ, Penn O, Cantsilieris S, Huddleston J, Antonacci F, Penewit K, Denman L, Raja A, Baker C, Mark K, Malig M, Janke N, Espinoza C, Stessman HAF, Nuttle X, Hoekzema K, Lindsay-Graves TA, Wilson RK, Eichler EE.

Nat Ecol Evol. 2017;1(3):69. doi: 10.1038/s41559-016-0069. Epub 2017 Feb 17.

5.

Targeted Capture and High-Throughput Sequencing Using Molecular Inversion Probes (MIPs).

Cantsilieris S, Stessman HA, Shendure J, Eichler EE.

Methods Mol Biol. 2017;1492:95-106.

6.

Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region.

Mohajeri K, Cantsilieris S, Huddleston J, Nelson BJ, Coe BP, Campbell CD, Baker C, Harshman L, Munson KM, Kronenberg ZN, Kremitzki M, Raja A, Catacchio CR, Graves TA, Wilson RK, Ventura M, Eichler EE.

Genome Res. 2016 Nov;26(11):1453-1467. Epub 2016 Oct 7.

7.

Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).

Grassmann F, Cantsilieris S, Schulz-Kuhnt AS, White SJ, Richardson AJ, Hewitt AW, Vote BJ, Schmied D, Guymer RH, Weber BH, Baird PN.

J Neuroinflammation. 2016 Apr 18;13(1):81. doi: 10.1186/s12974-016-0548-0.

8.

Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication.

Cantsilieris S, Western PS, Baird PN, White SJ.

BMC Genomics. 2014 May 1;15:329. doi: 10.1186/1471-2164-15-329.

9.

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration.

Zhan X, Larson DE, Wang C, Koboldt DC, Sergeev YV, Fulton RS, Fulton LL, Fronick CC, Branham KE, Bragg-Gresham J, Jun G, Hu Y, Kang HM, Liu D, Othman M, Brooks M, Ratnapriya R, Boleda A, Grassmann F, von Strachwitz C, Olson LM, Buitendijk GH, Hofman A, van Duijn CM, Cipriani V, Moore AT, Shahid H, Jiang Y, Conley YP, Morgan DJ, Kim IK, Johnson MP, Cantsilieris S, Richardson AJ, Guymer RH, Luo H, Ouyang H, Licht C, Pluthero FG, Zhang MM, Zhang K, Baird PN, Blangero J, Klein ML, Farrer LA, DeAngelis MM, Weeks DE, Gorin MB, Yates JR, Klaver CC, Pericak-Vance MA, Haines JL, Weber BH, Wilson RK, Heckenlively JR, Chew EY, Stambolian D, Mardis ER, Swaroop A, Abecasis GR.

Nat Genet. 2013 Nov;45(11):1375-9. doi: 10.1038/ng.2758. Epub 2013 Sep 15.

10.

Association of the del443ins54 at the ARMS2 locus in Indian and Australian cohorts with age-related macular degeneration.

Kaur I, Cantsilieris S, Katta S, Richardson AJ, Schache M, Pappuru RR, Narayanan R, Mathai A, Majji AB, Tindill N, Guymer RH, Chakrabarti S, Baird PN.

Mol Vis. 2013 Apr 5;19:822-8. Print 2013.

11.

Molecular methods for genotyping complex copy number polymorphisms.

Cantsilieris S, Baird PN, White SJ.

Genomics. 2013 Feb;101(2):86-93. doi: 10.1016/j.ygeno.2012.10.004. Epub 2012 Oct 30. Review.

12.

Can genetic associations change with age? CFH and age-related macular degeneration.

Adams MK, Simpson JA, Richardson AJ, Guymer RH, Williamson E, Cantsilieris S, English DR, Aung KZ, Makeyeva GA, Giles GG, Hopper J, Robman LD, Baird PN.

Hum Mol Genet. 2012 Dec 1;21(23):5229-36. doi: 10.1093/hmg/dds364. Epub 2012 Aug 29.

PMID:
22936692
13.

Correlating multiallelic copy number polymorphisms with disease susceptibility.

Cantsilieris S, White SJ.

Hum Mutat. 2013 Jan;34(1):1-13. doi: 10.1002/humu.22172. Epub 2012 Aug 23. Review.

PMID:
22837109
14.

Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration.

Cantsilieris S, White SJ, Richardson AJ, Guymer RH, Baird PN.

PLoS One. 2012;7(4):e35255. doi: 10.1371/journal.pone.0035255. Epub 2012 Apr 25.

15.

Almost total protection from age-related macular degeneration by haplotypes of the Regulators of Complement Activation.

Williamson JF, McLure CA, Guymer RH, Baird PN, Millman J, Cantsilieris S, Dawkins RL.

Genomics. 2011 Dec;98(6):412-21. doi: 10.1016/j.ygeno.2011.08.002. Epub 2011 Aug 9.

16.

Recent patents relating to diagnostic advances in age related macular degeneration (AMD).

Cantsilieris S, Schache M, Ashdown ML, Baird PN.

Recent Pat DNA Gene Seq. 2009;3(2):102-13. Review.

PMID:
19519580

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