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Items: 9

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.

Genet Med. 2019 Aug 30. doi: 10.1038/s41436-019-0643-6. [Epub ahead of print]

PMID:
31467448
2.

Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1β inhibition.

Gernez Y, de Jesus AA, Alsaleem H, Macaubas C, Roy A, Lovell D, Jagadeesh KA, Alehashemi S, Erdman L, Grimley M, Talarico S, Bacchetta R, Lewis DB, Canna SW, Laxer RM, Mellins ED, Goldbach-Mansky R, Weinacht KG.

J Allergy Clin Immunol. 2019 Oct;144(4):1122-1125.e6. doi: 10.1016/j.jaci.2019.06.017. Epub 2019 Jul 2. No abstract available.

PMID:
31271789
3.

CRISPR/Cas9 Genome Engineering in Engraftable Human Brain-Derived Neural Stem Cells.

Dever DP, Scharenberg SG, Camarena J, Kildebeck EJ, Clark JT, Martin RM, Bak RO, Tang Y, Dohse M, Birgmeier JA, Jagadeesh KA, Bejerano G, Tsukamoto A, Gomez-Ospina N, Uchida N, Porteus MH.

iScience. 2019 May 31;15:524-535. doi: 10.1016/j.isci.2019.04.036. Epub 2019 May 4.

4.

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.

Nat Genet. 2019 Apr;51(4):755-763. doi: 10.1038/s41588-019-0348-4. Epub 2019 Feb 25.

PMID:
30804562
5.

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.

6.

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
7.

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
8.

Deriving genomic diagnoses without revealing patient genomes.

Jagadeesh KA, Wu DJ, Birgmeier JA, Boneh D, Bejerano G.

Science. 2017 Aug 18;357(6352):692-695. doi: 10.1126/science.aam9710.

PMID:
28818945
9.

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

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