-
1
-
-
0033817459
-
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. The International PPH Consortium
-
10.1038/79226 10973254
-
Lane KB Machado RD Pauciulo MW Thomson JR Phillips JA 3rd Loyd JE Nichols WC Trembath RC Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. The International PPH Consortium Nat Genet 2000, 26(1):81-84. 10.1038/79226 10973254
-
(2000)
Nat Genet
, vol.26
, Issue.1
, pp. 81-84
-
-
Lane, K.B.1
Machado, R.D.2
Pauciulo, M.W.3
Thomson, J.R.4
Phillips III, J.A.5
Loyd, J.E.6
Nichols, W.C.7
Trembath, R.C.8
-
2
-
-
40049100690
-
Narrative review: The enigma of pulmonary arterial hypertension: New insights from genetic studies
-
18283205
-
Newman JH Phillips JA 3rd Loyd JE Narrative review: The enigma of pulmonary arterial hypertension: New insights from genetic studies Ann Intern Med 2008, 148(4):278-283. 18283205
-
(2008)
Ann Intern Med
, vol.148
, Issue.4
, pp. 278-283
-
-
Newman, J.H.1
Phillips III, J.A.2
Loyd, J.E.3
-
3
-
-
63749109111
-
Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele
-
10.1002/humu.20922 19206171
-
Hamid R Cogan JD Hedges LK Austin E Phillips JA III Newman JH Loyd JE Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele Human Mutation 2009, 30(4):649-654. 10.1002/humu.20922 19206171
-
(2009)
Human Mutation
, vol.30
, Issue.4
, pp. 649-654
-
-
Hamid, R.1
Cogan, J.D.2
Hedges, L.K.3
Austin, E.4
Phillips III, J.A.5
Newman, J.H.6
Loyd, J.E.7
-
4
-
-
54049144653
-
Copy-number variations associated with neuropsychiatric conditions
-
10.1038/nature07458 18923514
-
Cook EH Jr Scherer SW Copy-number variations associated with neuropsychiatric conditions Nature 2008, 455(7215):919-923. 10.1038/ nature07458 18923514
-
(2008)
Nature
, vol.455
, Issue.7215
, pp. 919-923
-
-
Cook Jr., E.H.1
Scherer, S.W.2
-
5
-
-
0035394438
-
An element in intron 1 of the CFTR gene augments intestinal expression in vivo
-
10.1093/hmg/10.14.1455 11448937
-
Rowntree RK Vassaux G McDowell TL Howe S McGuigan A Phylactides M Huxley C Harris A An element in intron 1 of the CFTR gene augments intestinal expression in vivo Hum Mol Genet 2001, 10(14):1455-1464. 10.1093/hmg/ 10.14.1455 11448937
-
(2001)
Hum Mol Genet
, vol.10
, Issue.14
, pp. 1455-1464
-
-
Rowntree, R.K.1
Vassaux, G.2
McDowell, T.L.3
Howe, S.4
McGuigan, A.5
Phylactides, M.6
Huxley, C.7
Harris, A.8
-
6
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
10.1038/ng1416 15286789
-
Iafrate AJ Feuk L Rivera MN Listewnik ML Donahoe PK Qi Y Scherer SW Lee C Detection of large-scale variation in the human genome Nat Genet 2004, 36(9):949-951. 10.1038/ng1416 15286789
-
(2004)
Nat Genet
, vol.36
, Issue.9
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
Qi, Y.6
Scherer, S.W.7
Lee, C.8
-
7
-
-
43049143055
-
Mapping and sequencing of structural variation from eight human genomes
-
2424287 18451855 10.1038/nature06862
-
Kidd JM Cooper GM Donahue WF Hayden HS Sampas N Graves T Hansen N Teague B Alkan C Antonacci F et al Mapping and sequencing of structural variation from eight human genomes Nature 2008, 453(7191):56-64. 2424287 18451855 10.1038/nature06862
-
(2008)
Nature
, vol.453
, Issue.7191
, pp. 56-64
-
-
Kidd, J.M.1
Cooper, G.M.2
Donahue, W.F.3
Hayden, H.S.4
Sampas, N.5
Graves, T.6
Hansen, N.7
Teague, B.8
Alkan, C.9
Antonacci, F.10
-
8
-
-
29444441336
-
A high-resolution survey of deletion polymorphism in the human genome
-
10.1038/ng1697 16327808
-
Conrad DF Andrews TD Carter NP Hurles ME Pritchard JK A high-resolution survey of deletion polymorphism in the human genome Nat Genet 2006, 38(1):75-81. 10.1038/ng1697 16327808
-
(2006)
Nat Genet
, vol.38
, Issue.1
, pp. 75-81
-
-
Conrad, D.F.1
Andrews, T.D.2
Carter, N.P.3
Hurles, M.E.4
Pritchard, J.K.5
-
9
-
-
52949093111
-
Systematic assessment of copy number variant detection via genome-wide SNP genotyping
-
10.1038/ng.236 18776910 2008
-
Cooper GM Zerr T Kidd JM Eichler EE Nickerson DA Systematic assessment of copy number variant detection via genome-wide SNP genotyping Nat Genet 2008, 40(10):1199-1203. 10.1038/ng.236 18776910 2008
-
Nat Genet
, vol.40
, Issue.10
, pp. 1199-1203
-
-
Cooper, G.M.1
Zerr, T.2
Kidd, J.M.3
Eichler, E.E.4
Nickerson, D.A.5
-
10
-
-
29444457877
-
Common deletion polymorphisms in the human genome
-
10.1038/ng1696 16468122
-
McCarroll SA Hadnott TN Perry GH Sabeti PC Zody MC Barrett JC Dallaire S Gabriel SB Lee C Daly MJ et al Common deletion polymorphisms in the human genome Nat Genet 2006, 38(1):86-92. 10.1038/ng1696 16468122
-
(2006)
Nat Genet
, vol.38
, Issue.1
, pp. 86-92
-
-
McCarroll, S.A.1
Hadnott, T.N.2
Perry, G.H.3
Sabeti, P.C.4
Zody, M.C.5
Barrett, J.C.6
Dallaire, S.7
Gabriel, S.B.8
Lee, C.9
Daly, M.J.10
-
11
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
10.1038/ng.238 18776908
-
McCarroll SA Kuruvilla FG Korn JM Cawley S Nemesh J Wysoker A Shapero MH de Bakker PI Maller JB Kirby A et al Integrated detection and population-genetic analysis of SNPs and copy number variation Nat Genet 2008, 40(10):1166-1174. 10.1038/ng.238 18776908
-
(2008)
Nat Genet
, vol.40
, Issue.10
, pp. 1166-1174
-
-
McCarroll, S.A.1
Kuruvilla, F.G.2
Korn, J.M.3
Cawley, S.4
Nemesh, J.5
Wysoker, A.6
Shapero, M.H.7
de Bakker, P.I.8
Maller, J.B.9
Kirby, A.10
-
12
-
-
41149140876
-
The fine-scale and complex architecture of human copy-number variation
-
2661628 18304495 10.1016/j.ajhg.2007.12.010
-
Perry GH Ben-Dor A Tsalenko A Sampas N Rodriguez-Revenga L Tran CW Scheffer A Steinfeld I Tsang P Yamada NA et al. The fine-scale and complex architecture of human copy-number variation Am J Hum Genet 2008, 82(3):685-695. 2661628 18304495 10.1016/j.ajhg.2007.12.010
-
(2008)
Am J Hum Genet
, vol.82
, pp. 685-695
-
-
Perry, G.H.1
Ben-Dor, A.2
Tsalenko, A.3
Sampas, N.4
Rodriguez-Revenga, L.5
Tran, C.W.6
Scheffer, A.7
Steinfeld, I.8
Tsang, P.9
Yamada, N.A.10
|