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Items: 6

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.

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

2.

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.

Genet Med. 2018 Dec 5. doi: 10.1038/s41436-018-0381-1. [Epub ahead of print]

PMID:
30514889
3.

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
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.

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

PMID:
29997393
5.

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
6.

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

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