O'Roak BJ - Search Results

1

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation.

Hiatt JB, Pritchard CC, Salipante SJ, O'Roak BJ, Shendure J. Hiatt JB, et al. Genome Res. 2013 May;23(5):843-54. doi: 10.1101/gr.147686.112. Epub 2013 Feb 4. Genome Res. 2013. PMID: 23382536 Free PMC article.

2

Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions.

Nuttle X, Huddleston J, O'Roak BJ, Antonacci F, Fichera M, Romano C, Shendure J, Eichler EE. Nuttle X, et al. Nat Methods. 2013 Sep;10(9):903-9. doi: 10.1038/nmeth.2572. Epub 2013 Jul 28. Nat Methods. 2013. PMID: 23892896 Free PMC article.

3

MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing.

Boyle EA, O'Roak BJ, Martin BK, Kumar A, Shendure J. Boyle EA, et al. Bioinformatics. 2014 Sep 15;30(18):2670-2. doi: 10.1093/bioinformatics/btu353. Epub 2014 May 26. Bioinformatics. 2014. PMID: 24867941 Free PMC article.

4

Estimating the human mutation rate using autozygosity in a founder population.

Campbell CD, Chong JX, Malig M, Ko A, Dumont BL, Han L, Vives L, O'Roak BJ, Sudmant PH, Shendure J, Abney M, Ober C, Eichler EE. Campbell CD, et al. Nat Genet. 2012 Nov;44(11):1277-81. doi: 10.1038/ng.2418. Epub 2012 Sep 23. Nat Genet. 2012. PMID: 23001126 Free PMC article.

5

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J. O'Roak BJ, et al. Science. 2012 Dec 21;338(6114):1619-22. doi: 10.1126/science.1227764. Epub 2012 Nov 15. Science. 2012. PMID: 23160955 Free PMC article.

6

A de novo convergence of autism genetics and molecular neuroscience.

Krumm N, O'Roak BJ, Shendure J, Eichler EE. Krumm N, et al. Trends Neurosci. 2014 Feb;37(2):95-105. doi: 10.1016/j.tins.2013.11.005. Epub 2013 Dec 30. Trends Neurosci. 2014. PMID: 24387789 Free PMC article. Review.

7

De novo TBR1 mutations in sporadic autism disrupt protein functions.

Deriziotis P, O'Roak BJ, Graham SA, Estruch SB, Dimitropoulou D, Bernier RA, Gerdts J, Shendure J, Eichler EE, Fisher SE. Deriziotis P, et al. Nat Commun. 2014 Sep 18;5:4954. doi: 10.1038/ncomms5954. Nat Commun. 2014. PMID: 25232744 Free PMC article.

8

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

Schueler M, Halbritter J, Phelps IG, Braun DA, Otto EA, Porath JD, Gee HY, Shendure J, O'Roak BJ, Lawson JA, Nabhan MM, Soliman NA, Doherty D, Hildebrandt F. Schueler M, et al. J Med Genet. 2016 Mar;53(3):208-14. doi: 10.1136/jmedgenet-2015-103304. Epub 2015 Dec 16. J Med Genet. 2016. PMID: 26673778 Free PMC article.

9

Highly scalable generation of DNA methylation profiles in single cells.

Mulqueen RM, Pokholok D, Norberg SJ, Torkenczy KA, Fields AJ, Sun D, Sinnamon JR, Shendure J, Trapnell C, O'Roak BJ, Xia Z, Steemers FJ, Adey AC. Mulqueen RM, et al. Nat Biotechnol. 2018 Jun;36(5):428-431. doi: 10.1038/nbt.4112. Epub 2018 Apr 9. Nat Biotechnol. 2018. PMID: 29644997 Free PMC article.

10

Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

O'Roak BJ, Stessman HA, Boyle EA, Witherspoon KT, Martin B, Lee C, Vives L, Baker C, Hiatt JB, Nickerson DA, Bernier R, Shendure J, Eichler EE. O'Roak BJ, et al. Nat Commun. 2014 Nov 24;5:5595. doi: 10.1038/ncomms6595. Nat Commun. 2014. PMID: 25418537 Free PMC article.

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