메뉴 건너뛰기




Volumn 7, Issue 1, 2015, Pages

Natural human knockouts and the era of genotype to phenotype

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN; BRCA2 PROTEIN;

EID: 84930643841     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-015-0173-z     Document Type: Article
Times cited : (22)

References (11)
  • 3
    • 84930649779 scopus 로고    scopus 로고
    • Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families
    • In press.
    • Shamseldin HE, Tulbah M, Kurdi W, Nemer M, Alsahan N, Al Mardawi E, et al. Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families. Genome Biol. In press.
    • Genome Biol.
    • Shamseldin, H.E.1    Tulbah, M.2    Kurdi, W.3    Nemer, M.4    Alsahan, N.5    Al Mardawi, E.6
  • 4
    • 84892688767 scopus 로고    scopus 로고
    • Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation
    • Alsalem AB, Halees AS, Anazi S, Alshamekh S, Alkuraya FS. Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation. PLoS Genet. 2013;9, e1004030.
    • (2013) PLoS Genet , vol.9
    • Alsalem, A.B.1    Halees, A.S.2    Anazi, S.3    Alshamekh, S.4    Alkuraya, F.S.5
  • 5
    • 84921802384 scopus 로고    scopus 로고
    • Human knockout research: new horizons and opportunities
    • Alkuraya FS. Human knockout research: new horizons and opportunities. Trends Genet. 2014;31:108-15.
    • (2014) Trends Genet , vol.31 , pp. 108-115
    • Alkuraya, F.S.1
  • 6
    • 84906226932 scopus 로고    scopus 로고
    • A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes
    • Moltke I, Grarup N, Jørgensen ME, Bjerregaard P, Treebak JT, Fumagalli M, et al. A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes. Nature. 2014;512:190-3.
    • (2014) Nature , vol.512 , pp. 190-193
    • Moltke, I.1    Grarup, N.2    Jørgensen, M.E.3    Bjerregaard, P.4    Treebak, J.T.5    Fumagalli, M.6
  • 11
    • 84905460411 scopus 로고    scopus 로고
    • Distribution and medical impact of loss-of-function variants in the Finnish founder population
    • Lim ET, Würtz P, Havulinna AS, Palta P, Tukiainen T, Rehnström K, et al. Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet. 2014;10, e1004494.
    • (2014) PLoS Genet , vol.10
    • Lim, E.T.1    Würtz, P.2    Havulinna, A.S.3    Palta, P.4    Tukiainen, T.5    Rehnström, K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.