-
1
-
-
84893674890
-
Genomic analysis of primordial dwarfism reveals novel disease genes
-
Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, et al. Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res. 2014;24:291-9.
-
(2014)
Genome Res
, vol.24
, pp. 291-299
-
-
Shaheen, R.1
Faqeih, E.2
Ansari, S.3
Abdel-Salam, G.4
Al-Hassnan, Z.N.5
Al-Shidi, T.6
-
2
-
-
84930650389
-
A novel APC mutation defines a second locus for Cenani-Lenz syndrome
-
Patel N, Faqeih E, Anazi S, Alfawareh M, Wakil SM, Colak D, et al. A novel APC mutation defines a second locus for Cenani-Lenz syndrome. J Med Genet. 2015. doi:10.1136/jmedgenet-2014-102850.
-
(2015)
J Med Genet.
-
-
Patel, N.1
Faqeih, E.2
Anazi, S.3
Alfawareh, M.4
Wakil, S.M.5
Colak, D.6
-
3
-
-
84930649779
-
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
-
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
-
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
-
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
-
8
-
-
84863116742
-
A systematic survey of loss-of-function variants in human protein-coding genes
-
MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science. 2012;335:823-8.
-
(2012)
Science
, vol.335
, pp. 823-828
-
-
MacArthur, D.G.1
Balasubramanian, S.2
Frankish, A.3
Huang, N.4
Morris, J.5
Walter, K.6
-
9
-
-
84929133372
-
Identification of a large set of rare complete human knockouts
-
Sulem P, Helgason H, Oddson A, Stefansson H, Gudjonsson SA, Zink F, et al. Identification of a large set of rare complete human knockouts. Nat Genet. 2015;47:448-52.
-
(2015)
Nat Genet
, vol.47
, pp. 448-452
-
-
Sulem, P.1
Helgason, H.2
Oddson, A.3
Stefansson, H.4
Gudjonsson, S.A.5
Zink, F.6
-
10
-
-
84897407583
-
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
-
Flannick J, Thorleifsson G, Beer NL, Jacobs SB, Grarup N, Burtt NP, et al. Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nat Genet. 2014;46:357-63.
-
(2014)
Nat Genet
, vol.46
, pp. 357-363
-
-
Flannick, J.1
Thorleifsson, G.2
Beer, N.L.3
Jacobs, S.B.4
Grarup, N.5
Burtt, N.P.6
-
11
-
-
84905460411
-
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
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