-
1
-
-
80054746492
-
Exome sequencing as a tool for Mendelian disease gene discovery
-
Bamshad MJ, et al. (2011) Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 12(11):745-755.
-
(2011)
Nat Rev Genet
, vol.12
, Issue.11
, pp. 745-755
-
-
Bamshad, M.J.1
-
4
-
-
79959316645
-
Whole-genome sequencing for optimized patient management
-
Bainbridge MN, et al. (2011) Whole-genome sequencing for optimized patient management. Sci Transl Med 3(87):87re3.
-
(2011)
Sci Transl Med
, vol.3
, Issue.87
-
-
Bainbridge, M.N.1
-
5
-
-
80052521660
-
Personalized genomic medicine: Lessons from the exome
-
NISC Comparative Sequencing Program
-
Solomon BD, et al.; NISC Comparative Sequencing Program (2011) Personalized genomic medicine: Lessons from the exome. Mol Genet Metab 104(1-2):189-191.
-
(2011)
Mol Genet Metab
, vol.104
, Issue.1-2
, pp. 189-191
-
-
Solomon, B.D.1
-
6
-
-
84864341757
-
A public resource facilitating clinical use of genomes
-
Ball MP, et al. (2012) A public resource facilitating clinical use of genomes. Proc Natl Acad Sci USA 109(30):11920-11927.
-
(2012)
Proc Natl Acad Sci USA
, vol.109
, Issue.30
, pp. 11920-11927
-
-
Ball, M.P.1
-
7
-
-
84863986933
-
Secondary variants in individuals undergoing exome sequencing: Screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes
-
Johnston JJ, 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(1):97-108.
-
(2012)
Am J Hum Genet
, vol.91
, Issue.1
, pp. 97-108
-
-
Johnston, J.J.1
-
8
-
-
84865315760
-
Applying genomic analysis to newborn screening
-
NISC Comparative Sequencing Program
-
Solomon BD, Pineda-Alvarez DE, Bear KA, Mullikin JC, Evans JP; NISC Comparative Sequencing Program (2012) Applying genomic analysis to newborn screening. Mol Syndromol 3(2):59-67.
-
(2012)
Mol Syndromol
, vol.3
, Issue.2
, pp. 59-67
-
-
Solomon, B.D.1
Pineda-Alvarez, D.E.2
Bear, K.A.3
Mullikin, J.C.4
Evans, J.P.5
-
9
-
-
77950475726
-
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
-
Lupski JR, et al. (2010) Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 362(13):1181-1191.
-
(2010)
N Engl J Med
, vol.362
, Issue.13
, pp. 1181-1191
-
-
Lupski, J.R.1
-
10
-
-
77956467633
-
Sequencing and analysis of an Irish human genome
-
Tong P, et al. (2010) Sequencing and analysis of an Irish human genome. Genome Biol 11(9):R91.
-
(2010)
Genome Biol
, vol.11
, Issue.9
-
-
Tong, P.1
-
11
-
-
79959276553
-
Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time
-
Berg JS, Khoury MJ, Evans JP (2011) Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time. Genet Med 13(6):499-504.
-
(2011)
Genet Med
, vol.13
, Issue.6
, pp. 499-504
-
-
Berg, J.S.1
Khoury, M.J.2
Evans, J.P.3
-
12
-
-
84861926494
-
Incidental medical information in whole-exome sequencing
-
NISC comparative Sequencing Program
-
Solomon BD, et al.; NISC comparative Sequencing Program (2012) Incidental medical information in whole-exome sequencing. Pediatrics 129(6):e1605-e1611.
-
(2012)
Pediatrics
, vol.129
, Issue.6
-
-
Solomon, B.D.1
-
13
-
-
84857187982
-
VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer
-
Teer JK, Green ED, Mullikin JC, Biesecker LG (2012) VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer. Bioinformatics 28(4):599-600.
-
(2012)
Bioinformatics
, vol.28
, Issue.4
, pp. 599-600
-
-
Teer, J.K.1
Green, E.D.2
Mullikin, J.C.3
Biesecker, L.G.4
-
14
-
-
84876318903
-
Getting ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project
-
Oetting WS, et al. (2013) Getting ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project. Hum Mutat 34(4):661-666.
-
(2013)
Hum Mutat
, vol.34
, Issue.4
, pp. 661-666
-
-
Oetting, W.S.1
-
15
-
-
84875514203
-
PhenoDB: A new web-based tool for the collection, storage, and analysis of phenotypic features
-
Hamosh A, et al. (2013) PhenoDB: A new web-based tool for the collection, storage, and analysis of phenotypic features. Hum Mutat 34(4):566-571.
-
(2013)
Hum Mutat
, vol.34
, Issue.4
, pp. 566-571
-
-
Hamosh, A.1
-
16
-
-
84859577332
-
Exploring concordance and discordance for return of incidental findings from clinical sequencing
-
Green RC, et al. (2012) Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med 14(4):405-410.
-
(2012)
Genet Med
, vol.14
, Issue.4
, pp. 405-410
-
-
Green, R.C.1
-
17
-
-
84875939245
-
Implementing genomic medicine in the clinic: The future is here
-
Manolio TA, et al. (2013) Implementing genomic medicine in the clinic: The future is here. Genet Med 15(4):258-267.
-
(2013)
Genet Med
, vol.15
, Issue.4
, pp. 258-267
-
-
Manolio, T.A.1
-
18
-
-
84867724867
-
An informatics approach to analyzing the incidentalome
-
Berg JS, et al. (2013) An informatics approach to analyzing the incidentalome. Genet Med 15(1):36-44.
-
(2013)
Genet Med
, vol.15
, Issue.1
, pp. 36-44
-
-
Berg, J.S.1
-
19
-
-
83055182072
-
Next-generation DNA sequencing, regulation, and the limits of paternalism: The next challenge
-
Evans JP, Berg JS (2011) Next-generation DNA sequencing, regulation, and the limits of paternalism: The next challenge. JAMA 306(21):2376-2377.
-
(2011)
JAMA
, vol.306
, Issue.21
, pp. 2376-2377
-
-
Evans, J.P.1
Berg, J.S.2
-
20
-
-
84870900036
-
Deleterious- and disease-allele prevalence in healthy individuals: Insights from current predictions, mutation databases, and population-scale resequencing
-
1000 Genomes Project Consortium
-
Xue Y, et al.; 1000 Genomes Project Consortium (2012) Deleterious- and disease-allele prevalence in healthy individuals: Insights from current predictions, mutation databases, and population-scale resequencing. Am J Hum Genet 91(6):1022-1032.
-
(2012)
Am J Hum Genet
, vol.91
, Issue.6
, pp. 1022-1032
-
-
Xue, Y.1
-
21
-
-
0022550463
-
Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene
-
DiLella AG, Kwok SC, Ledley FD, Marvit J, Woo SL (1986) Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene. Biochemistry 25(4):743-749. (Pubitemid 16028254)
-
(1986)
Biochemistry
, vol.25
, Issue.4
, pp. 743-749
-
-
DiLella, A.G.1
Kwok, S.C.M.2
Ledley, F.D.3
-
22
-
-
0022609047
-
Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria
-
Holtzman NA, Kronmal RA, van Doorninck W, Azen C, Koch R (1986) Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria. N Engl J Med 314(10):593-598. (Pubitemid 16132722)
-
(1986)
New England Journal of Medicine
, vol.314
, Issue.10
, pp. 593-598
-
-
Holtzman, N.A.1
Kronmal, R.A.2
Van Doorninck, W.3
-
23
-
-
0023640629
-
Timing of strict diet in relation to fetal damage in maternal phenylketonuria. An international collaborative study by the MRC/DHSS phenylketonuria register
-
Drogari E, Smith I, Beasley M, Lloyd JK (1987) Timing of strict diet in relation to fetal damage in maternal phenylketonuria. An international collaborative study by the MRC/DHSS Phenylketonuria Register. Lancet 2(8565):927-930. (Pubitemid 17150283)
-
(1987)
Lancet
, vol.2
, Issue.8565
, pp. 927-930
-
-
Drogari, E.1
Beasley, M.2
Smith, I.3
Lloyd, J.K.4
-
24
-
-
0027742295
-
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
-
DOI 10.1016/0092-8674(93)90546-3
-
Fishel R, et al. (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75(5):1027-1038. (Pubitemid 24014559)
-
(1993)
Cell
, vol.75
, Issue.5
, pp. 1027-1038
-
-
Fishel, R.1
Lescoe, M.K.2
Rao, M.R.S.3
Copeland, N.G.4
Jenkins, N.A.5
Garber, J.6
Kane, M.7
Kolodner, R.8
-
25
-
-
0027933070
-
Mutations of two PMS homologues in hereditary nonpolyposis colon cancer
-
Nicolaides NC, et al. (1994) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371(6492):75-80.
-
(1994)
Nature
, vol.371
, Issue.6492
, pp. 75-80
-
-
Nicolaides, N.C.1
-
26
-
-
0028350601
-
Mutation of a mutL homolog in hereditary colon cancer
-
Papadopoulos N, et al. (1994) Mutation of a mutL homolog in hereditary colon cancer. Science 263(5153):1625-1629. (Pubitemid 24128369)
-
(1994)
Science
, vol.263
, Issue.5153
, pp. 1625-1629
-
-
Papadopoulos, N.1
Nicolaides, N.C.2
Wei, Y.-F.3
Ruben, S.M.4
Carter, K.C.5
Rosen, C.A.6
Haseltine, W.A.7
Fleischmann, R.D.8
Fraser, C.M.9
Adams, M.D.10
Venter, J.C.11
Hamilton, S.R.12
Petersen, G.M.13
Watson, P.14
Lynch, H.T.15
Peltomaki, P.16
Mecklin, J.-P.17
De La, C.A.18
Kinzler, K.W.19
Vogelstein, B.20
more..
-
27
-
-
0031278322
-
Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer
-
Miyaki M, et al. (1997) Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 17(3):271-272.
-
(1997)
Nat Genet
, vol.17
, Issue.3
, pp. 271-272
-
-
Miyaki, M.1
-
28
-
-
17944362664
-
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)
-
Hampel H, et al. (2005) Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 352(18):1851-1860.
-
(2005)
N Engl J Med
, vol.352
, Issue.18
, pp. 1851-1860
-
-
Hampel, H.1
-
29
-
-
82755190462
-
Direct-to-consumer genetic testing: Reliable or risky?
-
Spencer DH, et al. (2011) Direct-to-consumer genetic testing: Reliable or risky? Clin Chem 57(12):1641-1644.
-
(2011)
Clin Chem
, vol.57
, Issue.12
, pp. 1641-1644
-
-
Spencer, D.H.1
-
30
-
-
33747591403
-
Newborn screening: Toward a uniform screening panel and system
-
American College of Medical Genetics' Newborn Screening Expert Group
-
American College of Medical Genetics' Newborn Screening Expert Group (2006) Newborn screening: Toward a uniform screening panel and system. Genet Med 8(Suppl 1):1S-252S.
-
(2006)
Genet Med
, vol.8
, Issue.SUPPL. 1
-
-
-
31
-
-
2342638980
-
Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway
-
DOI 10.1086/420794
-
Schwarze U, et al. (2004) Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum Genet 74(5):917-930. (Pubitemid 38568965) of Health
-
(2004)
American Journal of Human Genetics
, vol.74
, Issue.5
, pp. 917-930
-
-
Schwarze, U.1
Hata, R.-I.2
McKusick, V.A.3
Shinkai, H.4
Hoyme, H.E.5
Pyeritz, R.E.6
Byers, P.H.7
|