Birgmeier JA - Search Results

1

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. Dever DP, et al. Among authors: birgmeier ja. iScience. 2019 May 31;15:524-535. doi: 10.1016/j.isci.2019.04.036. Epub 2019 May 4. iScience. 2019. PMID: 31132746 Free PMC article.

2

Deriving genomic diagnoses without revealing patient genomes.

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

3

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. 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

4

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: birgmeier j. 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.

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. Chen HI, et al. Among authors: birgmeier j. 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.

6

InpherNet accelerates monogenic disease diagnosis using patients' candidate genes' neighbors.

Yoo B, Birgmeier J, Bernstein JA, Bejerano G. Yoo B, et al. Among authors: birgmeier j. Genet Med. 2021 Oct;23(10):1984-1992. doi: 10.1038/s41436-021-01238-2. Epub 2021 Jul 6. Genet Med. 2021. PMID: 34230641 Free article.

7

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. 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.

8

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. Sci Transl Med. 2020 May 20;12(544):eaau9113. doi: 10.1126/scitranslmed.aau9113. Sci Transl Med. 2020. PMID: 32434849 Free PMC article.

9

Transcription factor expression defines subclasses of developing projection neurons highly similar to single-cell RNA-seq subtypes.

Heavner WE, Ji S, Notwell JH, Dyer ES, Tseng AM, Birgmeier J, Yoo B, Bejerano G, McConnell SK. Heavner WE, et al. Proc Natl Acad Sci U S A. 2020 Oct 6;117(40):25074-25084. doi: 10.1073/pnas.2008013117. Epub 2020 Sep 18. Proc Natl Acad Sci U S A. 2020. PMID: 32948690 Free PMC article.

10

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: birgmeier j. 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.

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