Guturu H - Search Results

1

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. Balasubramanian M, et al. Among authors: guturu h. J Med Genet. 2017 Mar;54(3):157-165. doi: 10.1136/jmedgenet-2016-104143. Epub 2016 Oct 13. J Med Genet. 2017. PMID: 27738187 Free article.

2

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

Wenger AM, Guturu H, Bernstein JA, Bejerano G. Wenger AM, et al. Among authors: guturu h. Genet Med. 2017 Feb;19(2):209-214. doi: 10.1038/gim.2016.88. Epub 2016 Jul 21. Genet Med. 2017. PMID: 27441994 Free article.

3

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. Jagadeesh KA, et al. Among authors: guturu h. Nat Genet. 2016 Dec;48(12):1581-1586. doi: 10.1038/ng.3703. Epub 2016 Oct 24. Nat Genet. 2016. PMID: 27776117

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. Birgmeier J, et al. Among authors: guturu h. Am J Med Genet A. 2018 Apr;176(4):1030-1036. doi: 10.1002/ajmg.a.38636. Am J Med Genet A. 2018. PMID: 29575631

5

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. Jagadeesh KA, et al. Among authors: guturu h. Genet Med. 2019 Feb;21(2):464-470. doi: 10.1038/s41436-018-0072-y. Epub 2018 Jul 12. Genet Med. 2019. PMID: 29997393 Free article.

6

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. Wenger AM, et al. Among authors: guturu h. PLoS Genet. 2013 Aug;9(8):e1003728. doi: 10.1371/journal.pgen.1003728. Epub 2013 Aug 29. PLoS Genet. 2013. PMID: 24009522 Free PMC article.

7

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. Chen HI, et al. Among authors: guturu h. Eur J Hum Genet. 2018 Dec;26(12):1810-1818. doi: 10.1038/s41431-018-0221-4. Epub 2018 Aug 7. Eur J Hum Genet. 2018. PMID: 30087448 Free PMC article.

8

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. Berger MJ, et al. Among authors: guturu h. Nucleic Acids Res. 2018 Oct 12;46(18):9299-9308. doi: 10.1093/nar/gky741. Nucleic Acids Res. 2018. PMID: 30137416 Free PMC article.

9

AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature.

Birgmeier J, Haeussler M, Deisseroth CA, Steinberg EH, Jagadeesh KA, Ratner AJ, Guturu H, Wenger AM, Diekhans ME, Stenson PD, Cooper DN, Ré C, Beggs AH, Bernstein JA, Bejerano G. Birgmeier J, et al. Among authors: guturu h. Sci Transl Med. 2020 May 20;12(544):eaau9113. doi: 10.1126/scitranslmed.aau9113. Sci Transl Med. 2020. PMID: 32434849 Free PMC article.

10

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. Wenger AM, et al. Among authors: guturu h. Genome Res. 2013 May;23(5):889-904. doi: 10.1101/gr.139071.112. Epub 2013 Feb 4. Genome Res. 2013. PMID: 23382538 Free PMC article.

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