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Items: 17

1.

Independent erosion of conserved transcription factor binding sites points to shared hindlimb, vision and external testes loss in different mammals.

Berger MJ, Wenger AM, Guturu H, Bejerano G.

Nucleic Acids Res. 2018 Oct 12;46(18):9299-9308. doi: 10.1093/nar/gky741.

2.

An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.

Chen HI, Jagadeesh KA, Birgmeier J, Wenger AM, Guturu H, Schelley S, Bernstein JA, Bejerano G.

Eur J Hum Genet. 2018 Dec;26(12):1810-1818. doi: 10.1038/s41431-018-0221-4. Epub 2018 Aug 7.

PMID:
30087448
3.

Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization.

Jagadeesh KA, Birgmeier J, Guturu H, Deisseroth CA, Wenger AM, Bernstein JA, Bejerano G.

Genet Med. 2019 Feb;21(2):464-470. doi: 10.1038/s41436-018-0072-y. Epub 2018 Jul 12.

PMID:
29997393
4.

Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome.

Birgmeier J, Esplin ED, Jagadeesh KA, Guturu H, Wenger AM, Chaib H, Buckingham JA, Bejerano G, Bernstein JA.

Am J Med Genet A. 2018 Apr;176(4):1030-1036. doi: 10.1002/ajmg.a.38636.

PMID:
29575631
5.

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, Lehman A, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham JM Jr, Hevner R, Dobyns WB, O'Driscoll M, Mirzaa GM.

Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203.

6.

Clustering of 770,000 genomes reveals post-colonial population structure of North America.

Han E, Carbonetto P, Curtis RE, Wang Y, Granka JM, Byrnes J, Noto K, Kermany AR, Myres NM, Barber MJ, Rand KA, Song S, Roman T, Battat E, Elyashiv E, Guturu H, Hong EL, Chahine KG, Ball CA.

Nat Commun. 2017 Feb 7;8:14238. doi: 10.1038/ncomms14238.

7.

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity.

Jagadeesh KA, Wenger AM, Berger MJ, Guturu H, Stenson PD, Cooper DN, Bernstein JA, Bejerano G.

Nat Genet. 2016 Dec;48(12):1581-1586. doi: 10.1038/ng.3703. Epub 2016 Oct 24.

PMID:
27776117
8.

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.

Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS, Bowen J, Calhoun AR, Viskochil DH; DDD Study, Bejerano G, Bernstein JA, Chitayat D.

J Med Genet. 2017 Mar;54(3):157-165. doi: 10.1136/jmedgenet-2016-104143. Epub 2016 Oct 13.

9.

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.

Wenger AM, Guturu H, Bernstein JA, Bejerano G.

Genet Med. 2017 Feb;19(2):209-214. doi: 10.1038/gim.2016.88. Epub 2016 Jul 21.

PMID:
27441994
10.

Erosion of Conserved Binding Sites in Personal Genomes Points to Medical Histories.

Guturu H, Chinchali S, Clarke SL, Bejerano G.

PLoS Comput Biol. 2016 Feb 4;12(2):e1004711. doi: 10.1371/journal.pcbi.1004711. eCollection 2016 Feb.

11.

NetworkPainter: dynamic intracellular pathway animation in Cytobank.

Karr JR, Guturu H, Chen EY, Blair SL, Irish JM, Kotecha N, Covert MW.

BMC Bioinformatics. 2015 May 25;16:172. doi: 10.1186/s12859-015-0602-4.

12.

Microbiota modulate transcription in the intestinal epithelium without remodeling the accessible chromatin landscape.

Camp JG, Frank CL, Lickwar CR, Guturu H, Rube T, Wenger AM, Chen J, Bejerano G, Crawford GE, Rawls JF.

Genome Res. 2014 Sep;24(9):1504-16. doi: 10.1101/gr.165845.113. Epub 2014 Jun 24.

13.

Structure-aided prediction of mammalian transcription factor complexes in conserved non-coding elements.

Guturu H, Doxey AC, Wenger AM, Bejerano G.

Philos Trans R Soc Lond B Biol Sci. 2013 Nov 11;368(1632):20130029. doi: 10.1098/rstb.2013.0029. Print 2013 Dec 19.

14.

The enhancer landscape during early neocortical development reveals patterns of dense regulation and co-option.

Wenger AM, Clarke SL, Notwell JH, Chung T, Tuteja G, Guturu H, Schaar BT, Bejerano G.

PLoS Genet. 2013 Aug;9(8):e1003728. doi: 10.1371/journal.pgen.1003728. Epub 2013 Aug 29.

15.

Computational methods to detect conserved non-genic elements in phylogenetically isolated genomes: application to zebrafish.

Hiller M, Agarwal S, Notwell JH, Parikh R, Guturu H, Wenger AM, Bejerano G.

Nucleic Acids Res. 2013 Aug;41(15):e151. doi: 10.1093/nar/gkt557. Epub 2013 Jun 27.

16.

PRISM offers a comprehensive genomic approach to transcription factor function prediction.

Wenger AM, Clarke SL, Guturu H, Chen J, Schaar BT, McLean CY, Bejerano G.

Genome Res. 2013 May;23(5):889-904. doi: 10.1101/gr.139071.112. Epub 2013 Feb 4.

17.

BioText Search Engine: beyond abstract search.

Hearst MA, Divoli A, Guturu H, Ksikes A, Nakov P, Wooldridge MA, Ye J.

Bioinformatics. 2007 Aug 15;23(16):2196-7. Epub 2007 Jun 1.

PMID:
17545178

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