Bejerano G - Search Results

1

AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature.

Birgmeier J, Deisseroth CA, Hayward LE, Galhardo LMT, Tierno AP, Jagadeesh KA, Stenson PD, Cooper DN, Bernstein JA, Haeussler M, Bejerano G. Birgmeier J, et al. Among authors: bejerano g. Genet Med. 2020 Feb;22(2):362-370. doi: 10.1038/s41436-019-0643-6. Epub 2019 Aug 30. Genet Med. 2020. PMID: 31467448 Free PMC 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: bejerano g. 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

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: bejerano g. 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.

4

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: bejerano g. Nat Genet. 2016 Dec;48(12):1581-1586. doi: 10.1038/ng.3703. Epub 2016 Oct 24. Nat Genet. 2016. PMID: 27776117

5

Deriving genomic diagnoses without revealing patient genomes.

Jagadeesh KA, Wu DJ, Birgmeier JA, Boneh D, Bejerano G. Jagadeesh KA, et al. Among authors: bejerano g. Science. 2017 Aug 18;357(6352):692-695. doi: 10.1126/science.aam9710. Science. 2017. PMID: 28818945

6

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: bejerano g. 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

7

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: bejerano g. 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.

8

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: bejerano g. 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.

9

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.

Deisseroth CA, Birgmeier J, Bodle EE, Kohler JN, Matalon DR, Nazarenko Y, Genetti CA, Brownstein CA, Schmitz-Abe K, Schoch K, Cope H, Signer R; Undiagnosed Diseases Network; Martinez-Agosto JA, Shashi V, Beggs AH, Wheeler MT, Bernstein JA, Bejerano G. Deisseroth CA, et al. Among authors: bejerano g. Genet Med. 2019 Jul;21(7):1585-1593. doi: 10.1038/s41436-018-0381-1. Epub 2018 Dec 5. Genet Med. 2019. PMID: 30514889 Free PMC article.

10

S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing.

Jagadeesh KA, Paggi JM, Ye JS, Stenson PD, Cooper DN, Bernstein JA, Bejerano G. Jagadeesh KA, et al. Among authors: bejerano g. Nat Genet. 2019 Apr;51(4):755-763. doi: 10.1038/s41588-019-0348-4. Epub 2019 Feb 25. Nat Genet. 2019. PMID: 30804562

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