-
1
-
-
39649108670
-
Expanded newborn screening: Implications for genomic medicine
-
DOI 10.1146/annurev.med.59.110106.132016
-
McCabe LL, McCabe ER. 2008. Expanded newborn screening: implications for genomic medicine. Annu. Rev. Med. 59:163-75 (Pubitemid 351287930)
-
(2008)
Annual Review of Medicine
, vol.59
, pp. 163-175
-
-
McCabe, L.L.1
McCabe, E.R.B.2
-
2
-
-
33744784588
-
Newborn screening: Toward a uniform screening panel and system-executive summary
-
Watson MS, MannMY, Lloyd-Puryear MA, et al. 2006. Newborn screening: toward a uniform screening panel and system-executive summary. Pediatrics 117:S296-307
-
(2006)
Pediatrics
, vol.117
-
-
Watson, M.S.1
Mann, M.Y.2
Lloyd-Puryear, M.A.3
-
3
-
-
77958598460
-
Genetic screening in the Persian Jewish community: A pilot study
-
Kaback M, Lopatequi J, Portuges AR, et al. 2010. Genetic screening in the Persian Jewish community: a pilot study. Genet. Med. 12:628-33
-
(2010)
Genet. Med
, vol.12
, pp. 628-633
-
-
Kaback, M.1
Lopatequi, J.2
Portuges, A.R.3
-
4
-
-
78049440186
-
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases
-
Scott SA, Edelmann L, Liu L, et al. 2010. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum. Mutat. 31:1240-50
-
(2010)
Hum. Mutat
, vol.31
, pp. 1240-1250
-
-
Scott, S.A.1
Edelmann, L.2
Liu, L.3
-
5
-
-
78651393550
-
Carrier testing for severe childhood recessive diseases by next-generation sequencing
-
Bell CJ, Dinwiddie DL, Miller NA, et al. 2011. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci. Transl. Med. 3:65ra4
-
(2011)
Sci. Transl. Med
, vol.3
-
-
Bell, C.J.1
Dinwiddie, D.L.2
Miller, N.A.3
-
6
-
-
84867475619
-
Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases
-
Kingsmore S. 2012. Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases. PLoS Curr. 4:e4f9877ab8ffa9
-
(2012)
PLoS Curr
, vol.4
-
-
Kingsmore, S.1
-
7
-
-
77954244632
-
Assessing the potential success of cystic fibrosis carrier screening: Lessons learned from Tay-Sachs disease and β-thalassemia
-
Laberge AM, Watts C, Porter K, et al. 2010. Assessing the potential success of cystic fibrosis carrier screening: lessons learned from Tay-Sachs disease and β-thalassemia. Public Health Genomics 13:310-19
-
(2010)
Public Health Genomics
, vol.13
, pp. 310-319
-
-
Laberge, A.M.1
Watts, C.2
Porter, K.3
-
8
-
-
84859153002
-
Noninvasive prenatal diagnosis empowered by high-throughput sequencing
-
Chiu RW, Lo YM. 2012. Noninvasive prenatal diagnosis empowered by high-throughput sequencing. Prenat. Diagn. 32:401-6
-
(2012)
Prenat. Diagn
, vol.32
, pp. 401-406
-
-
Chiu, R.W.1
Lo, Y.M.2
-
9
-
-
84887624460
-
Next generation sequencing of SNPs for noninvasive prenatal diagnosis: Challenges and feasibility as illustrated by an application to β-thalassaemia
-
In press. doi: 10.1038/ejhg.2013.47
-
Papasavva T, van Ijcken WF, Kockx CE, et al. 2013. Next generation sequencing of SNPs for noninvasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia. Eur. J. Hum. Genet. In press. doi: 10.1038/ejhg.2013.47
-
(2013)
Eur. J. Hum. Genet
-
-
Papasavva, T.1
Van Ijcken, W.F.2
Kockx, C.E.3
-
10
-
-
84897124557
-
Should healthy people have their genomes sequenced at this time?
-
Feb. 15
-
Butte AJ, Green R. 2013. Should healthy people have their genomes sequenced at this time? Wall Street J. Feb. 15. http://online.wsj.com/article/ SB10000872396390443884104577645783975993656.html
-
(2013)
Wall Street J
-
-
Butte, A.J.1
Green, R.2
-
11
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
DOI 10.1038/35057062
-
Lander ES, Linton LM, Birren B, et al. 2001. Initial sequencing and analysis of the human genome. Nature 409:860-921 (Pubitemid 32165345)
-
(2001)
Nature
, vol.409
, Issue.6822
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
Nusbaum, C.4
Zody, M.C.5
Baldwin, J.6
Devon, K.7
Dewar, K.8
Doyle, M.9
Fitzhugh, W.10
Funke, R.11
Gage, D.12
Harris, K.13
Heaford, A.14
Howland, J.15
Kann, L.16
Lehoczky, J.17
Levine, R.18
McEwan, P.19
McKernan, K.20
Meldrim, J.21
Mesirov, J.P.22
Miranda, C.23
Morris, W.24
Naylor, J.25
Raymond, C.26
Rosetti, M.27
Santos, R.28
Sheridan, A.29
Sougnez, C.30
Stange-Thomann, N.31
Stojanovic, N.32
Subramanian, A.33
Wyman, D.34
Rogers, J.35
Sulston, J.36
Ainscough, R.37
Beck, S.38
Bentley, D.39
Burton, J.40
Clee, C.41
Carter, N.42
Coulson, A.43
Deadman, R.44
Deloukas, P.45
Dunham, A.46
Dunham, I.47
Durbin, R.48
French, L.49
Grafham, D.50
Gregory, S.51
Hubbard, T.52
Humphray, S.53
Hunt, A.54
Jones, M.55
Lloyd, C.56
McMurray, A.57
Matthews, L.58
Mercer, S.59
Milne, S.60
Mullikin, J.C.61
Mungall, A.62
Plumb, R.63
Ross, M.64
Shownkeen, R.65
Sims, S.66
Waterston, R.H.67
Wilson, R.K.68
Hillier, L.W.69
McPherson, J.D.70
Marra, M.A.71
Mardis, E.R.72
Fulton, L.A.73
Chinwalla, A.T.74
Pepin, K.H.75
Gish, W.R.76
Chissoe, S.L.77
Wendl, M.C.78
Delehaunty, K.D.79
Miner, T.L.80
Delehaunty, A.81
Kramer, J.B.82
Cook, L.L.83
Fulton, R.S.84
Johnson, D.L.85
Minx, P.J.86
Clifton, S.W.87
Hawkins, T.88
Branscomb, E.89
Predki, P.90
Richardson, P.91
Wenning, S.92
Slezak, T.93
Doggett, N.94
Cheng, J.-F.95
Olsen, A.96
Lucas, S.97
Elkin, C.98
Uberbacher, E.99
more..
-
12
-
-
0242317346
-
Fundamentals of cDNA microarray data analysis
-
DOI 10.1016/j.tig.2003.09.015
-
Leung YF, Cavalieri D. 2003. Fundamentals of cDNA microarray data analysis. Trends Genet. 19:649-59 (Pubitemid 37338385)
-
(2003)
Trends in Genetics
, vol.19
, Issue.11
, pp. 649-659
-
-
Leung, Y.F.1
Cavalieri, D.2
-
13
-
-
39649124023
-
Array-based DNA diagnostics: Let the revolution begin
-
DOI 10.1146/annurev.med.59.012907.101800
-
Beaudet AL, Belmont JW. 2008. Array-based DNA diagnostics: let the revolution begin. Annu. Rev. Med. 59:113-29 (Pubitemid 351287927)
-
(2008)
Annual Review of Medicine
, vol.59
, pp. 113-129
-
-
Beaudet, A.L.1
Belmont, J.W.2
-
14
-
-
84878892869
-
Comparison of chromosome analysis and chromosomal microarray analysis: What is the value of chromosome analysis in today's genomic array era?
-
Bi W, Borgan C, Pursley AN, et al. 2013. Comparison of chromosome analysis and chromosomal microarray analysis: What is the value of chromosome analysis in today's genomic array era? GenetMed. 15:450-57
-
(2013)
GenetMed
, vol.15
, pp. 450-457
-
-
Bi, W.1
Borgan, C.2
Pursley, A.N.3
-
15
-
-
84871824961
-
Gene expression profiles for predictingmetastasis in breast cancer: A cross-study comparison of classification methods
-
ID 380495
-
Burton M, ThomassenM, Tan Q, et al. 2012. Gene expression profiles for predictingmetastasis in breast cancer: a cross-study comparison of classification methods. Sci. World J. 2012:(ID 380495):1-11
-
(2012)
Sci. World J
, vol.2012
, pp. 1-11
-
-
Burton, M.1
Thomassenm Tan, Q.2
-
16
-
-
84891691904
-
Classification of breast carcinomas according to gene expression profiles
-
Moldovan L, Mitroi A, Petrescu C, et al. 2013. Classification of breast carcinomas according to gene expression profiles. J. Med. Life 6:14-17
-
(2013)
J. Med. Life
, vol.6
, pp. 14-17
-
-
Moldovan, L.1
Mitroi, A.2
Petrescu, C.3
-
17
-
-
84880515119
-
Not-so-incidental findings: TheACMGrecommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing
-
Allyse M, Michie M. 2013. Not-so-incidental findings: theACMGrecommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing. Trends Biotechnol. 31(8):439- 41
-
(2013)
Trends Biotechnol
, vol.31
, Issue.8
, pp. 439-441
-
-
Allyse, M.1
Michie, M.2
-
18
-
-
84864920004
-
Comparison of next-generation sequencing systems
-
Liu L, Li Y, Li S, et al. 2012. Comparison of next-generation sequencing systems. J. Biomed. Biotechnol. 2012:251364
-
(2012)
J. Biomed. Biotechnol
, vol.2012
, pp. 251364
-
-
Liu, L.1
Li, Y.2
Li, S.3
-
19
-
-
84862182131
-
Next-generation sequencing technologies and applications for human genetic history and forensics
-
Berglund EC, Kiialainen A, Syvanen AC. 2011. Next-generation sequencing technologies and applications for human genetic history and forensics. Investig. Genet. 2:23
-
(2011)
Investig. Genet
, vol.2
, pp. 23
-
-
Berglund, E.C.1
Kiialainen, A.2
Syvanen, A.C.3
-
20
-
-
0041930775
-
Gene counters struggle to get the right answer
-
DOI 10.1126/science.301.5636.1040
-
Pennisi E. 2003. Bioinformatics. Gene counters struggle to get the right answer. Science 301:1040-41 (Pubitemid 37022292)
-
(2003)
Science
, vol.301
, Issue.5636
, pp. 1040-1041
-
-
Pennisi, E.1
-
21
-
-
77953446523
-
The Human Gene Mutation Database: 2008 update
-
Stenson PD, Mort M, Ball EV, et al. 2009. The Human Gene Mutation Database: 2008 update. Genome Med. 1:13
-
(2009)
Genome Med
, vol.1
, pp. 13
-
-
Stenson, P.D.1
Mort, M.2
Ball, E.V.3
-
22
-
-
84877923785
-
Genetic counselors' current use of personal health records-based family histories in genetic clinics and considerations for their future adoption
-
Widmer C, Deshazo JP, Bodurtha J, et al. 2013. Genetic counselors' current use of personal health records-based family histories in genetic clinics and considerations for their future adoption. J. Genet. Couns. 22:384-92
-
(2013)
J. Genet. Couns
, vol.22
, pp. 384-392
-
-
Widmer, C.1
Deshazo, J.P.2
Bodurtha, J.3
-
23
-
-
84874609313
-
Rare variant detection using family-based sequencing analysis
-
Peng G, Fan Y, Palculict TB, et al. 2013. Rare variant detection using family-based sequencing analysis. Proc. Natl. Acad. Sci. USA 110:3985-90
-
(2013)
Proc. Natl. Acad. Sci. USA
, vol.110
, pp. 3985-3990
-
-
Peng, G.1
Fan, Y.2
Palculict, T.B.3
-
24
-
-
35748951614
-
Direct selection of human genomic loci by microarray hybridization
-
DOI 10.1038/nmeth1111, PII NMETH1111
-
Albert TJ, Molla MN, Muzny DM, et al. 2007. Direct selection of human genomic loci by microarray hybridization. Nat. Methods 4:903-5 (Pubitemid 350042375)
-
(2007)
Nature Methods
, vol.4
, Issue.11
, pp. 903-905
-
-
Albert, T.J.1
Molla, M.N.2
Muzny, D.M.3
Nazareth, L.4
Wheeler, D.5
Song, X.6
Richmond, T.A.7
Middle, C.M.8
Rodesch, M.J.9
Packard, C.J.10
Weinstock, G.M.11
Gibbs, R.A.12
-
25
-
-
70349866695
-
Upcoming challenges for multiple sequence alignment methods in the high-throughput era
-
Kemena C, Notredame C. 2009. Upcoming challenges for multiple sequence alignment methods in the high-throughput era. Bioinformatics 25:2455-65
-
(2009)
Bioinformatics
, vol.25
, pp. 2455-2465
-
-
Kemena, C.1
Notredame, C.2
-
26
-
-
77957272611
-
A survey of sequence alignment algorithms for next-generation sequencing
-
Li H, HomerN. 2010. A survey of sequence alignment algorithms for next-generation sequencing. Brief. Bioinform. 11:473-83
-
(2010)
Brief. Bioinform
, vol.11
, pp. 473-483
-
-
Li, H.1
Homer, N.2
-
27
-
-
84866742932
-
A beginners guide to SNP calling from high-throughput DNA-sequencing data
-
Altmann A, Weber P, Bader D, et al. 2012. A beginners guide to SNP calling from high-throughput DNA-sequencing data. Hum. Genet. 131:1541-54
-
(2012)
Hum. Genet
, vol.131
, pp. 1541-1554
-
-
Altmann, A.1
Weber, P.2
Bader, D.3
-
28
-
-
55549145156
-
In silico analysis of missense substitutions using sequence-alignment based methods
-
Tavtigian SV, Greenblatt MS, Lesueur F, et al. 2008. In silico analysis of missense substitutions using sequence-alignment based methods. Hum. Mutat. 29:1327-36
-
(2008)
Hum. Mutat
, vol.29
, pp. 1327-1336
-
-
Tavtigian, S.V.1
Greenblatt, M.S.2
Lesueur, F.3
-
29
-
-
80455126001
-
Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and genome analyzer systems
-
Minoche AE, Dohm JC, Himmelbauer H. 2011. Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and genome analyzer systems. Genome Biol. 12:R112
-
(2011)
Genome Biol
, vol.12
-
-
Minoche, A.E.1
Dohm, J.C.2
Himmelbauer, H.3
-
30
-
-
74949138753
-
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
-
Drmanac R, Sparks AB, Callow MJ, et al. 2010. Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 327:78-81
-
(2010)
Science
, vol.327
, pp. 78-81
-
-
Drmanac, R.1
Sparks, A.B.2
Callow, M.J.3
-
31
-
-
77951799158
-
Analysis of genetic inheritance in a family quartet by whole-genome sequencing
-
Roach JC, Glusman G, Smit AF, et al. 2010. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 328:636-39
-
(2010)
Science
, vol.328
, pp. 636-639
-
-
Roach, J.C.1
Glusman, G.2
Smit, A.F.3
-
32
-
-
84864326252
-
Genomic dark matter: The reliability of short read mapping illustrated by the Genome Mappability Score
-
Lee H, Schatz MC. 2012. Genomic dark matter: the reliability of short read mapping illustrated by the Genome Mappability Score. Bioinformatics 28:2097-105
-
(2012)
Bioinformatics
, vol.28
, pp. 2097-2105
-
-
Lee, H.1
Schatz, M.C.2
-
35
-
-
84874108148
-
Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study
-
Facio FM, Eidem H, Fisher T, et al. 2013. Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study. Eur. J. Hum. Genet. 21:261-65
-
(2013)
Eur. J. Hum. Genet
, vol.21
, pp. 261-265
-
-
Facio, F.M.1
Eidem, H.2
Fisher, T.3
-
36
-
-
84877292144
-
Incidental variants are critical for genomics
-
Biesecker LG. 2013. Incidental variants are critical for genomics. Am. J. Hum. Genet. 92:648-51
-
(2013)
Am. J. Hum. Genet
, vol.92
, pp. 648-651
-
-
Biesecker, L.G.1
-
38
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
Green RC, Berg JS, Grody WW, et al. 2013. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 15:565-74
-
(2013)
Genet. Med
, vol.15
, pp. 565-574
-
-
Green, R.C.1
Berg, J.S.2
Grody, W.W.3
-
40
-
-
84896689833
-
Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders
-
In press. doi: 10.1111/cge.12168
-
Fokstuen S, Makrythanasis P, Nikolaev S, et al. 2013. Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders. Clin. Genet. In press. doi: 10.1111/cge.12168
-
(2013)
Clin. Genet
-
-
Fokstuen, S.1
Makrythanasis, P.2
Nikolaev, S.3
-
42
-
-
84872320164
-
Cholesteryl ester transfer protein inhibitors for dyslipidemia: Focus on dalcetrapib
-
Goldberg AS, Hegele RA. 2012. Cholesteryl ester transfer protein inhibitors for dyslipidemia: focus on dalcetrapib. Drug Des. Dev. Ther. 6:251-59
-
(2012)
Drug Des. Dev. Ther
, vol.6
, pp. 251-259
-
-
Goldberg, A.S.1
Hegele, R.A.2
-
44
-
-
44049103477
-
Combination therapy in cholesterol reduction: Focus on ezetimibe and statins
-
Grigore L, Norata GD, Catapano AL. 2008. Combination therapy in cholesterol reduction: focus on ezetimibe and statins. Vasc. Health Risk Manag. 4:267-78 (Pubitemid 351711955)
-
(2008)
Vascular Health and Risk Management
, vol.4
, Issue.2
, pp. 267-278
-
-
Grigore, L.1
Norata, G.D.2
Catapano, A.L.3
-
45
-
-
34249287067
-
Marfan syndrome: An update of genetics, medical and surgical management
-
DOI 10.1136/hrt.2006.098798
-
von Kodolitsch Y, Robinson PN. 2007. Marfan syndrome: an update of genetics, medical and surgical management. Heart 93:755-60 (Pubitemid 46808288)
-
(2007)
Heart
, vol.93
, Issue.6
, pp. 755-760
-
-
Von Kodolitsch, Y.1
Robinson, P.N.2
-
46
-
-
20144367207
-
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
-
DOI 10.1038/ng1511
-
Loeys BL, Chen J, Neptune ER, et al. 2005.Asyndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat. Genet. 37:275-81 (Pubitemid 41716254)
-
(2005)
Nature Genetics
, vol.37
, Issue.3
, pp. 275-281
-
-
Loeys, B.L.1
Chen, J.2
Neptune, E.R.3
Judge, D.P.4
Podowski, M.5
Holm, T.6
Meyers, J.7
Leitch, C.C.8
Katsanis, N.9
Sharifi, N.10
Xu, F.L.11
Myers, L.A.12
Spevak, P.J.13
Cameron, D.E.14
De Backer, J.15
Hellemans, J.16
Chen, Y.17
Davis, E.C.18
Webb, C.L.19
Kress, W.20
Coucke, P.21
Rifkin, D.B.22
De Paepe, A.M.23
Dietz, H.C.24
more..
-
47
-
-
0038376243
-
Imaging of vascular gene therapy
-
DOI 10.1148/radiol.2281020307
-
Yang X. 2003. Imaging of vascular gene therapy. Radiology 228:36-49 (Pubitemid 36736067)
-
(2003)
Radiology
, vol.228
, Issue.1
, pp. 36-49
-
-
Yang, X.1
-
48
-
-
33745950499
-
Review of the molecular pharmacology of Losartan and its possible relevance to stroke prevention in patients with hypertension
-
DOI 10.1016/j.clinthera.2006.06.002, PII S014929180600138X
-
Diez J. 2006. Review of the molecular pharmacology of Losartan and its possible relevance to stroke prevention in patients with hypertension. Clin. Ther. 28:832-48 (Pubitemid 44062691)
-
(2006)
Clinical Therapeutics
, vol.28
, Issue.6
, pp. 832-848
-
-
Diez, J.1
-
49
-
-
0028902929
-
Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy
-
WatkinsH, McKenna WJ, Thierfelder L, et al. 1995. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy. N. Engl. J. Med. 332:1058-64
-
(1995)
N. Engl. J. Med
, vol.332
, pp. 1058-1064
-
-
Watkins, H.1
McKenna, W.J.2
Thierfelder, L.3
-
50
-
-
84888066429
-
A systematic review andmeta-analysis of genotype-phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations
-
In press
-
Lopes LR, Rahman MS, Elliott PM. 2013. A systematic review andmeta-analysis of genotype-phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations. Heart. In press
-
(2013)
Heart
-
-
Lopes, L.R.1
Rahman, M.S.2
Elliott, P.M.3
-
52
-
-
84861481127
-
Potassium-channel mutations and cardiac arrhythmias-diagnosis and therapy
-
Giudicessi JR, Ackerman MJ. 2012. Potassium-channel mutations and cardiac arrhythmias-diagnosis and therapy. Nat. Rev. Cardiol. 9:319-32
-
(2012)
Nat. Rev. Cardiol
, vol.9
, pp. 319-332
-
-
Giudicessi, J.R.1
Ackerman, M.J.2
-
53
-
-
84860120316
-
Sudden cardiac death and genetic ion channelopathies: Long QT, Brugada, short QT, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation
-
Napolitano C, Bloise R, Monteforte N, et al. 2012. Sudden cardiac death and genetic ion channelopathies: long QT, Brugada, short QT, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation. Circulation 125:2027-34
-
(2012)
Circulation
, vol.125
, pp. 2027-2034
-
-
Napolitano, C.1
Bloise, R.2
Monteforte, N.3
-
54
-
-
84875977824
-
Moving toward a more ideal anticoagulant: The oral direct thrombin and factor Xa inhibitors
-
King CS, Holley AB, Moores LK. 2013. Moving toward a more ideal anticoagulant: the oral direct thrombin and factor Xa inhibitors. Chest 143:1106-16
-
(2013)
Chest
, vol.143
, pp. 1106-1116
-
-
King, C.S.1
Holley, A.B.2
Moores, L.K.3
-
55
-
-
84858407916
-
Do platelet function testing and genotyping improve outcome in patients treatedwith antithrombotic agentsPlatelet function testing and genotyping improve outcome in patients treated with antithrombotic agents
-
discussion 87
-
Gurbel PA, Tantry US. 2012. Do platelet function testing and genotyping improve outcome in patients treatedwith antithrombotic agentsPlatelet function testing and genotyping improve outcome in patients treated with antithrombotic agents. Circulation 125:1276-87; discussion 87
-
(2012)
Circulation
, vol.125
, pp. 1276-1287
-
-
Gurbel, P.A.1
Tantry, U.S.2
-
56
-
-
80052962391
-
Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing
-
Johnson JA, Gong L, Whirl-Carrillo M, et al. 2011. Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing. Clin. Pharmacol. Ther. 90:625-29
-
(2011)
Clin. Pharmacol. Ther
, vol.90
, pp. 625-629
-
-
Johnson, J.A.1
Gong, L.2
Whirl-Carrillo, M.3
-
57
-
-
84878840359
-
Implication of novel CYP2C9*57 (p.Asn204His) variant in coumarin hypersensitivity
-
Nahar R, Dube D, Parakh R, et al. 2013. Implication of novel CYP2C9*57 (p.Asn204His) variant in coumarin hypersensitivity. Thromb. Res. 131(6):535-39
-
(2013)
Thromb. Res
, vol.131
, Issue.6
, pp. 535-539
-
-
Nahar, R.1
Dube, D.2
Parakh, R.3
-
58
-
-
84877872515
-
Novel associations of VKORC1 variants with higher acenocoumarol requirements
-
Anton AI, Cerezo-Manchado JJ, Padilla J, et al. 2013. Novel associations of VKORC1 variants with higher acenocoumarol requirements. PLoS ONE 8:e64469
-
(2013)
PLoS ONE
, vol.8
-
-
Anton, A.I.1
Cerezo-Manchado, J.J.2
Padilla, J.3
-
59
-
-
84857715227
-
Clinical utility of pharmacogenetic biomarkers in cardiovascular therapeutics: A challenge for clinical implementation
-
Ong FS, Deignan JL, Kuo JZ, et al. 2012. Clinical utility of pharmacogenetic biomarkers in cardiovascular therapeutics: a challenge for clinical implementation. Pharmacogenomics 13:465-75
-
(2012)
Pharmacogenomics
, vol.13
, pp. 465-475
-
-
Ong, F.S.1
Deignan, J.L.2
Kuo, J.Z.3
-
60
-
-
84878605201
-
Applications of CYP450 testing in the clinical setting
-
Samer CF, Lorenzini KI, Rollason V, et al. 2013. Applications of CYP450 testing in the clinical setting. Mol. Diagn. Ther. 17:165-84
-
(2013)
Mol. Diagn. Ther
, vol.17
, pp. 165-184
-
-
Samer, C.F.1
Lorenzini, K.I.2
Rollason, V.3
-
61
-
-
0015043748
-
Mutation and cancer: Statistical study of retinoblastoma
-
Knudson AG Jr. 1971. Mutation and cancer: statistical study of retinoblastoma. Proc. Natl. Acad. Sci. USA 68:820-23
-
(1971)
Proc. Natl. Acad. Sci. USA
, vol.68
, pp. 820-823
-
-
Knudson Jr., A.G.1
-
62
-
-
0028073794
-
BRCA1 mutations in primary breast and ovarian carcinomas
-
Futreal PA, Liu Q, Shattuck-Eidens D, et al. 1994. BRCA1 mutations in primary breast and ovarian carcinomas. Science 266:120-22 (Pubitemid 24345332)
-
(1994)
Science
, vol.266
, Issue.5182
, pp. 120-122
-
-
Futreal, P.A.1
Liu, Q.2
Shattuck-Eidens, D.3
Cochran, C.4
Harshman, K.5
Tavtigian, S.6
Bennett, L.M.7
Haugen-Strano, A.8
Swensen, J.9
Miki, Y.10
Eddington, K.11
McClure, M.12
Frye, C.13
Weaver-Feldhaus, J.14
Ding, W.15
Gholami, Z.16
Soderkvist, P.17
Terry, L.18
Jhanwar, S.19
Berchuck, A.20
Iglehart, J.D.21
Marks, J.22
Ballinger, D.G.23
Barrett, J.C.24
Skolnick, M.H.25
Kamb, A.26
Wiseman, R.27
more..
-
63
-
-
0028113345
-
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
-
Miki Y, Swensen J, Shattuck-Eidens D, et al. 1994. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71 (Pubitemid 24345325)
-
(1994)
Science
, vol.266
, Issue.5182
, pp. 66-71
-
-
Miki, Y.1
Swensen, J.2
Shattuck-Eidens, D.3
Futreal, P.A.4
Harshman, K.5
Tavtigian, S.6
Liu, Q.7
Cochran, C.8
Bennett, L.M.9
Ding, W.10
Bell, R.11
Rosenthal, J.12
Hussey, C.13
Tran, T.14
McClure, M.15
Frye, C.16
Hattier, T.17
Phelps, R.18
Haugen-Strano, A.19
Katcher, H.20
Yakumo, K.21
Gholami, Z.22
Shaffer, D.23
Stone, S.24
Bayer, S.25
Wray, C.26
Bogden, R.27
Dayananth, P.28
Ward, J.29
Tonin, P.30
Narod, S.31
Bristow, P.K.32
Norris, F.H.33
Helvering, L.34
Morrison, P.35
Rosteck, P.36
Lai, M.37
Barrett, J.C.38
Lewis, C.39
Neuhausen, S.40
Cannon-Albright, L.41
Goldgar, D.42
Wiseman, R.43
Kamb, A.44
Skolnick, M.H.45
more..
-
64
-
-
0006713602
-
Identification of the breast cancer susceptibility gene BRCA2
-
DOI 10.1038/378789a0
-
Wooster R, Bignell G, Lancaster J, et al. 1995. Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789-92 (Pubitemid 26004412)
-
(1995)
Nature
, vol.378
, Issue.6559
, pp. 789-792
-
-
Wooster, R.1
Bignell, G.2
Lancaster, J.3
Swift, S.4
Seal, S.5
Mangion, J.6
Collins, N.7
Gregory, S.8
Gumbs, C.9
Micklem, G.10
Barfoot, R.11
Hamoudl, R.12
Patel, S.13
Rice, C.14
Biggs, P.15
Hashim, Y.16
Smith, A.17
Connor, F.18
Arason, A.19
Gudmundsson, J.20
Ficenec, D.21
Kelsell, D.22
Ford, D.23
Tonin, P.24
Bishop, D.T.25
Spurr, N.K.26
Ponder, B.A.J.27
Eeles, R.28
Peto, J.29
Devilee, P.30
Cornelisse, C.31
Lynch, H.32
Narod, S.33
Lenoir, G.34
Egilsson, V.35
Barkadottir, R.B.36
Easton, D.F.37
Bentley, D.R.38
Futreal, P.A.39
Ashworth, A.40
Stratton, M.R.41
more..
-
65
-
-
84855518614
-
Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer
-
Stadler ZK, Salo-Mullen E, Patil SM, et al. 2012. Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer. Cancer 118:493-99
-
(2012)
Cancer
, vol.118
, pp. 493-499
-
-
Stadler, Z.K.1
Salo-Mullen, E.2
Patil, S.M.3
-
66
-
-
84878823452
-
Cancer risks for BRCA1 and BRCA2 mutation carriers: Results from prospective analysis of EMBRACE
-
Mavaddat N, Peock S, Frost D, et al. 2013. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J. Natl. Cancer Inst. 105:812-22
-
(2013)
J. Natl. Cancer Inst
, vol.105
, pp. 812-822
-
-
Mavaddat, N.1
Peock, S.2
Frost, D.3
-
67
-
-
84886102161
-
International rates of breast reconstruction after prophylactic mastectomy in BRCA1 and BRCA2 mutation carriers
-
Semple J, Metcalfe KA, Lynch HT, et al. 2013. International rates of breast reconstruction after prophylactic mastectomy in BRCA1 and BRCA2 mutation carriers. Ann. Surg. Oncol. 20:3817-22
-
(2013)
Ann. Surg. Oncol
, vol.20
, pp. 3817-3822
-
-
Semple, J.1
Metcalfe, K.A.2
Lynch, H.T.3
-
68
-
-
84879331078
-
-
New York Times, May 14, Opinion
-
Jolie A. 2013. My medical choice. New York Times, May 14, Opinion. http://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html-r=1&
-
(2013)
My Medical Choice
-
-
Jolie, A.1
-
69
-
-
36649034883
-
Backseat drivers take the wheel
-
DOI 10.1016/j.ccr.2007.11.020, PII S1535610807003406
-
Futreal PA. 2007. Backseat drivers take the wheel. Cancer Cell 12:493-94 (Pubitemid 350199076)
-
(2007)
Cancer Cell
, vol.12
, Issue.6
, pp. 493-494
-
-
Futreal, P.A.1
-
70
-
-
84874857331
-
HER2 drives luminal breast cancer stem cells in the absence of HER2 amplification: Implications for efficacy of adjuvant trastuzumab
-
Ithimakin S, Day KC, Malik F, et al. 2013. HER2 drives luminal breast cancer stem cells in the absence of HER2 amplification: implications for efficacy of adjuvant trastuzumab. Cancer Res. 73:1635-46
-
(2013)
Cancer Res
, vol.73
, pp. 1635-1646
-
-
Ithimakin, S.1
Day, K.C.2
Malik, F.3
-
72
-
-
84906329091
-
Hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome
-
Steinke V, Engel C, Buttner R, et al. 2013. Hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome. Dtsch. Arztebl. Int. 110:32-38
-
(2013)
Dtsch. Arztebl. Int
, vol.110
, pp. 32-38
-
-
Steinke, V.1
Engel, C.2
Buttner, R.3
-
73
-
-
0027209054
-
Determination of tumor aggressiveness in colorectal cancer by K-ras-2 analysis
-
discussion 31-32
-
Finkelstein SD, Sayegh R, Bakker A, et al. 1993. Determination of tumor aggressiveness in colorectal cancer by K-ras-2 analysis. Arch. Surg. 128:526-31; discussion 31-32
-
(1993)
Arch. Surg
, vol.128
, pp. 526-531
-
-
Finkelstein, S.D.1
Sayegh, R.2
Bakker, A.3
-
74
-
-
77955084711
-
DbCPCO: A database of genetic markers tested for their predictive and prognostic value in colorectal cancer
-
Savas S, Younghusband HB. 2010. dbCPCO: a database of genetic markers tested for their predictive and prognostic value in colorectal cancer. Hum. Mutat. 31:901-7
-
(2010)
Hum. Mutat
, vol.31
, pp. 901-907
-
-
Savas, S.1
Younghusband, H.B.2
-
75
-
-
59249105836
-
Deletion hotspots in AMACR promoter CpG island are cis-regulatory elements controlling the gene expression in the colon
-
Zhang X, Leav I, Revelo MP, et al. 2009. Deletion hotspots in AMACR promoter CpG island are cis-regulatory elements controlling the gene expression in the colon. PLoS Genet. 5:e1000334
-
(2009)
PLoS Genet
, vol.5
-
-
Zhang, X.1
Leav, I.2
Revelo, M.P.3
-
76
-
-
0032850948
-
Colorectal cancer prevention by non-steroidal anti-inflammatory drugs: Effects of dosage and timing
-
DOI 10.1038/sj.bjc.6690651
-
Collet JP, Sharpe C, Belzile E, et al. 1999. Colorectal cancer prevention by non-steroidal antiinflammatory drugs: effects of dosage and timing. Br. J. Cancer 81:62-68 (Pubitemid 29415492)
-
(1999)
British Journal of Cancer
, vol.81
, Issue.1
, pp. 62-68
-
-
Collet, J.-P.1
Sharpe, C.2
Belzile, E.3
Boivin, J.-F.4
Hanley, J.5
Abenhalm, L.6
-
77
-
-
84868034820
-
Lifestyle factors and their combined impact on the risk of colorectal polyps
-
Fu Z, Shrubsole MJ, Smalley WE, et al. 2012. Lifestyle factors and their combined impact on the risk of colorectal polyps. Am. J. Epidemiol. 176:766-76
-
(2012)
Am. J. Epidemiol
, vol.176
, pp. 766-776
-
-
Fu, Z.1
Shrubsole, M.J.2
Smalley, W.E.3
-
78
-
-
0035850402
-
The continuing epidemics of obesity and diabetes in the United States
-
Mokdad AH, Bowman BA, Ford ES, et al. 2001. The continuing epidemics of obesity and diabetes in the United States. JAMA 286:1195-200 (Pubitemid 33015548)
-
(2001)
Journal of the American Medical Association
, vol.286
, Issue.10
, pp. 1195-1200
-
-
Mokdad, A.H.1
Bowman, B.A.2
Ford, E.S.3
Vinicor, F.4
Marks, J.S.5
Koplan, J.P.6
-
79
-
-
70949087926
-
Heritability of insulin sensitivity and lipid profile depend on BMI: Evidence for gene-obesity interaction
-
Wang X, Ding X, Su S, et al. 2009. Heritability of insulin sensitivity and lipid profile depend on BMI: evidence for gene-obesity interaction. Diabetologia 52:2578-84
-
(2009)
Diabetologia
, vol.52
, pp. 2578-2584
-
-
Wang, X.1
Ding, X.2
Su, S.3
-
80
-
-
84879498188
-
Hypertension, obesity, and coronary artery disease in the survivors of congenital heart disease
-
Roche SL, Silversides CK. 2013. Hypertension, obesity, and coronary artery disease in the survivors of congenital heart disease. Can. J. Cardiol. 29(7):841-48
-
(2013)
Can. J. Cardiol
, vol.29
, Issue.7
, pp. 841-848
-
-
Roche, S.L.1
Silversides, C.K.2
-
81
-
-
84878469610
-
Link between obesity and cancer
-
Williams SC. 2013. Link between obesity and cancer. Proc. Natl. Acad. Sci. USA 110:8753-54
-
(2013)
Proc. Natl. Acad. Sci. USA
, vol.110
, pp. 8753-8754
-
-
Williams, S.C.1
-
82
-
-
79551510805
-
Obesity and cancer risk: Recent review and evidence
-
Basen-Engquist K, Chang M. 2011. Obesity and cancer risk: recent review and evidence. Curr. Oncol. Rep. 13:71-76
-
(2011)
Curr. Oncol. Rep
, vol.13
, pp. 71-76
-
-
Basen-Engquist, K.1
Chang, M.2
-
83
-
-
79959328167
-
Metabolic syndrome and cardiovascular risk
-
Alshehri AM. 2010. Metabolic syndrome and cardiovascular risk. J. Fam. Community Med. 17:73-78
-
(2010)
J. Fam. Community Med
, vol.17
, pp. 73-78
-
-
Alshehri, A.M.1
-
85
-
-
84863687179
-
Heritability of body mass index in pre-adolescence, young adulthood and late adulthood
-
Nan C, Guo B, Warner C, et al. 2012. Heritability of body mass index in pre-adolescence, young adulthood and late adulthood. Eur. J. Epidemiol. 27:247-53
-
(2012)
Eur. J. Epidemiol
, vol.27
, pp. 247-253
-
-
Nan, C.1
Guo, B.2
Warner, C.3
-
86
-
-
33749017409
-
The human obesity gene map: The 2005 update
-
Rankinen T, Zuberi A, Chagnon YC, et al. 2006. The human obesity gene map: the 2005 update. Obesity (Silver Spring) 14:529-644 (Pubitemid 46219737)
-
(2006)
Obesity
, vol.14
, Issue.4
, pp. 529-644
-
-
Rankinen, T.1
Zuberi, A.2
Chagnon, Y.C.3
Weisnagel, S.J.4
Argyropoulos, G.5
Walts, B.6
Perusse, L.7
Bouchard, C.8
-
87
-
-
84879410229
-
From obesity genetics to the future of personalized obesity therapy
-
El-Sayed Moustafa JS, Froguel P. 2013. From obesity genetics to the future of personalized obesity therapy. Nat. Rev. Endocrinol. 9(7):402-13
-
(2013)
Nat. Rev. Endocrinol
, vol.9
, Issue.7
, pp. 402-413
-
-
El-Sayed Moustafa, J.S.1
Froguel, P.2
-
88
-
-
84876041829
-
Phentermine and topiramate for the management of obesity: A review
-
CosentinoG, Conrad AO, Uwaifo GI. 2013. Phentermine and topiramate for the management of obesity: a review. Drug Des. Dev. Ther. 7:267-78
-
(2013)
Drug Des. Dev. Ther
, vol.7
, pp. 267-278
-
-
Cosentino, G.1
Conrad, A.O.2
Uwaifo, G.I.3
-
89
-
-
38949102967
-
Adjustable gastric banding: Blessing or curse?
-
DOI 10.1308/003588408X242150
-
Himpens JM. 2008. Gastric banding-to band or bypass. Adjustable gastric banding: blessing or curse? Ann. R. Coll. Surg. Engl. 90:2-4 (Pubitemid 351227927)
-
(2008)
Annals of the Royal College of Surgeons of England
, vol.90
, Issue.1
, pp. 2-4
-
-
Himpens, J.M.1
-
90
-
-
78650031174
-
Huntington's disease: From molecular pathogenesis to clinical treatment
-
Ross CA, Tabrizi SJ. 2011. Huntington's disease: from molecular pathogenesis to clinical treatment. Lancet Neurol. 10:83-98
-
(2011)
Lancet Neurol
, vol.10
, pp. 83-98
-
-
Ross, C.A.1
Tabrizi, S.J.2
-
91
-
-
84867608942
-
The genetics of Alzheimer disease
-
In press. doi: 10.1101/cshperspect.a006296
-
Tanzi RE. 2012. The genetics of Alzheimer disease. Cold Spring Harb. Perspect. Med. In press. doi: 10.1101/cshperspect.a006296
-
(2012)
Cold Spring Harb. Perspect. Med
-
-
Tanzi, R.E.1
-
92
-
-
77957927865
-
The genetics of Alzheimer disease: Back to the future
-
Bertram L, Lill CM, Tanzi RE. 2010. The genetics of Alzheimer disease: back to the future. Neuron 68:270-81
-
(2010)
Neuron
, vol.68
, pp. 270-281
-
-
Bertram, L.1
Lill, C.M.2
Tanzi, R.E.3
-
93
-
-
84880302020
-
Progress in Alzheimer's disease research in the last year
-
Galimberti D, Scarpini E. 2013. Progress in Alzheimer's disease research in the last year. J. Neurol. 260(7):1936-41
-
(2013)
J. Neurol
, vol.260
, Issue.7
, pp. 1936-1941
-
-
Galimberti, D.1
Scarpini, E.2
-
94
-
-
84862679888
-
3-(2, 4-Dimethoxybenzylidene)-anabaseine: A promising candidate drug for Alzheimer's disease?
-
Zawieja P, Kornprobst JM, Metais P. 2012. 3-(2, 4-Dimethoxybenzylidene)- anabaseine: a promising candidate drug for Alzheimer's disease? Geriatr. Gerontol. Int. 12:365-71
-
(2012)
Geriatr. Gerontol. Int
, vol.12
, pp. 365-371
-
-
Zawieja, P.1
Kornprobst, J.M.2
Metais, P.3
-
95
-
-
33846107792
-
Clinical safety and diagnostic value of the gadolinium chelate gadoterate meglumine (Gd-DOTA)
-
DOI 10.1097/01.rli.0000248893.01067.e5, PII 0000442420070100000008
-
Herborn CU, Honold E, Wolf M, et al. 2007. Clinical safety and diagnostic value of the gadolinium chelate gadoterate meglumine (Gd-DOTA). Investig. Radiol. 42:58-62 (Pubitemid 46072553)
-
(2007)
Investigative Radiology
, vol.42
, Issue.1
, pp. 58-62
-
-
Herborn, C.U.1
Honold, E.2
Wolf, M.3
Kemper, J.4
Kinner, S.5
Adam, G.6
Barkhausen, J.7
-
96
-
-
84878377304
-
Fast in vivo imaging of amyloid plaques using μ-MRI Gd-staining combined with ultrasound-induced blood-brain barrier opening
-
Santin MD, Debeir T, Bridal SL, et al. 2013. Fast in vivo imaging of amyloid plaques using μ-MRI Gd-staining combined with ultrasound-induced blood-brain barrier opening. Neuroimage 79C:288-94
-
(2013)
Neuroimage
, vol.79 C
, pp. 288-294
-
-
Santin, M.D.1
Debeir, T.2
Bridal, S.L.3
-
97
-
-
0142042849
-
3 receptor antagonist in cerebellar syndrome secondary to multiple sclerosis
-
DOI 10.1007/s00415-003-0176-3
-
Monaca-Charley C, Stojkovic T, Duhamel A, et al. 2003. Double-blind crossover study with dolasetron mesilate, a 5-HT3 receptor antagonist in cerebellar syndrome secondary to multiple sclerosis. J. Neurol. 250:1190-94 (Pubitemid 37289650)
-
(2003)
Journal of Neurology
, vol.250
, Issue.10
, pp. 1190-1194
-
-
Monaca-Charley, C.1
Stojkovic, T.2
Duhamel, A.3
De Seze, J.4
Ferriby, D.5
Vermersch, P.6
-
98
-
-
84859583108
-
Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: Lessons from the ClinSeq project
-
Biesecker LG. 2012. Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project. Genet. Med. 14:393-98
-
(2012)
Genet. Med
, vol.14
, pp. 393-398
-
-
Biesecker, L.G.1
-
99
-
-
84863986933
-
Secondary variants in individuals undergoing exome sequencing: Screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes
-
Johnston JJ, Rubinstein WS, Facio FM, et al. 2012. Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am. J. Hum. Genet. 91:97-108
-
(2012)
Am. J. Hum. Genet
, vol.91
, pp. 97-108
-
-
Johnston, J.J.1
Rubinstein, W.S.2
Facio, F.M.3
-
100
-
-
69749108657
-
The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine
-
Biesecker LG, Mullikin JC, Facio FM, et al. 2009. The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res. 19:1665-74
-
(2009)
Genome Res
, vol.19
, pp. 1665-1674
-
-
Biesecker, L.G.1
Mullikin, J.C.2
Facio, F.M.3
-
101
-
-
81555203460
-
Motivators for participation in a whole-genome sequencing study: Implications for translational genomics research
-
Facio FM, Brooks S, Loewenstein J, et al. 2011. Motivators for participation in a whole-genome sequencing study: implications for translational genomics research. Eur. J. Hum. Genet. 19:1213-17
-
(2011)
Eur. J. Hum. Genet
, vol.19
, pp. 1213-1217
-
-
Facio, F.M.1
Brooks, S.2
Loewenstein, J.3
-
103
-
-
79954997174
-
LOVD v.2.0: The next generation in gene variant databases
-
Fokkema IF, Taschner PE, Schaafsma GC, et al. 2011. LOVD v.2.0: the next generation in gene variant databases. Hum. Mutat. 32:557-63
-
(2011)
Hum. Mutat
, vol.32
, pp. 557-563
-
-
Fokkema, I.F.1
Taschner, P.E.2
Schaafsma, G.C.3
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