-
1
-
-
84908694539
-
Rare is common
-
Chief Medical Officer, Annual Report of the Chief Medical Officer 2009; Department of Health: London, UK
-
Chief Medical Officer. Rare is common. In Chief Medical Officer. Annual Report of the Chief Medical Officer 2009; Department of Health: London, UK, 2009; pp. 38-45.
-
(2009)
Chief Medical Officer
, pp. 38-45
-
-
-
3
-
-
84908694538
-
-
Available online, accessed on 10 August 2014
-
Genetic Testing Registry (GTR). Available online: http://www.ncbi.nlm.nih.gov/gtr/ (accessed on 10 August 2014).
-
-
-
-
5
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
-
Yang, Y.; Muzny, D.M.; Reid, J.G.; Bainbridge, M.N.; Willis, A.; Ward, P.A.; Braxton, A.; Beuten, J.; Xia, F.; Niu, Z., et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N. Engl. J. Med. 2013, 369, 1502-1511.
-
(2013)
N. Engl. J. Med
, vol.369
, pp. 1502-1511
-
-
Yang, Y.1
Muzny, D.M.2
Reid, J.G.3
Bainbridge, M.N.4
Willis, A.5
Ward, P.A.6
Braxton, A.7
Beuten, J.8
Xia, F.9
Niu, Z.10
-
6
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng, S.B.; Turner, E.H.; Robertson, P.D.; Flygare, S.D.; Bigham, A.W.; Lee, C.; Shaffer, T.; Wong, M.; Bhattacharjee, A.; Eichler, E.E., et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009, 461, 272-276.
-
(2009)
Nature
, vol.461
, pp. 272-276
-
-
Ng, S.B.1
Turner, E.H.2
Robertson, P.D.3
Flygare, S.D.4
Bigham, A.W.5
Lee, C.6
Shaffer, T.7
Wong, M.8
Bhattacharjee, A.9
Eichler, E.E.10
-
7
-
-
73349110071
-
Exome sequencing identifies the cause of a mendelian disorder
-
Ng, S.B.; Buckingham, K.J.; Lee, C.; Bigham, A.W.; Tabor, H.K.; Dent, K.M.; Huff, C.D.; Shannon, P.T.; Jabs, E.W.; Nickerson, D.A., et al. Exome sequencing identifies the cause of a mendelian disorder. Nat. Genet. 2010, 42, 30-35.
-
(2010)
Nat. Genet
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
Bigham, A.W.4
Tabor, H.K.5
Dent, K.M.6
Huff, C.D.7
Shannon, P.T.8
Jabs, E.W.9
Nickerson, D.A.10
-
8
-
-
73349138875
-
Exome sequencing makes medical genomics a reality
-
Biesecker, L.G. Exome sequencing makes medical genomics a reality. Nat. Genet. 2010, 42, 13-14.
-
(2010)
Nat. Genet
, vol.42
, pp. 13-14
-
-
Biesecker, L.G.1
-
9
-
-
84875217898
-
Disease-targeted sequencing: A cornerstone in the clinic
-
Rehm, H.L. Disease-targeted sequencing: A cornerstone in the clinic. Nat. Rev. Genet. 2013, 14, 295-300.
-
(2013)
Nat. Rev. Genet
, vol.14
, pp. 295-300
-
-
Rehm, H.L.1
-
10
-
-
84864099628
-
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
-
O’Sullivan, J.; Mullaney, B.G.; Bhaskar, S.S.; Dickerson, J.E.; Hall, G.; O’Grady, A.; Webster, A.; Ramsden, S.C.; Black, G.C. A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. J. Med. Genet. 2012, 49, 322-326.
-
(2012)
J. Med. Genet
, vol.49
, pp. 322-326
-
-
O’sullivan, J.1
Mullaney, B.G.2
Bhaskar, S.S.3
Dickerson, J.E.4
Hall, G.5
O’grady, A.6
Webster, A.7
Ramsden, S.C.8
Black, G.C.9
-
11
-
-
84859916597
-
Disease gene identification strategies for exome sequencing
-
Gilissen, C.; Hoischen, A.; Brunner, H.G.; Veltman, J.A. Disease gene identification strategies for exome sequencing. Eur. J. Hum. Genet. 2012, 20, 490-497.
-
(2012)
Eur. J. Hum. Genet
, vol.20
, pp. 490-497
-
-
Gilissen, C.1
Hoischen, A.2
Brunner, H.G.3
Veltman, J.A.4
-
12
-
-
84888803513
-
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
-
Braun, T.A.; Mullins, R.F.; Wagner, A.H.; Andorf, J.L.; Johnston, R.M.; Bakall, B.B.; Deluca, A.P.; Fishman, G.A.; Lam, B.L.; Weleber, R.G., et al. Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. Hum. Mol. Genet. 2013, 22, 5136-5145.
-
(2013)
Hum. Mol. Genet
, vol.22
, pp. 5136-5145
-
-
Braun, T.A.1
Mullins, R.F.2
Wagner, A.H.3
Andorf, J.L.4
Johnston, R.M.5
Bakall, B.B.6
Deluca, A.P.7
Fishman, G.A.8
Lam, B.L.9
Weleber, R.G.10
-
13
-
-
65449144325
-
Evaluation of next generation sequencing platforms for population targeted sequencing studies
-
doi
-
Harismendy, O.; Ng, P.C.; Strausberg, R.L.; Wang, X.; Stockwell, T.B.; Beeson, K.Y.; Schork, N.J.; Murray, S.S.; Topol, E.J.; Levy, S., et al. Evaluation of next generation sequencing platforms for population targeted sequencing studies. Genome Biol. 2009, 10, doi:10.1186/gb-2009-10-3-r32.
-
(2009)
Genome Biol
, pp. 10
-
-
Harismendy, O.1
Ng, P.C.2
Strausberg, R.L.3
Wang, X.4
Stockwell, T.B.5
Beeson, K.Y.6
Schork, N.J.7
Murray, S.S.8
Topol, E.J.9
Levy, S.10
-
14
-
-
84908470973
-
Personalized diagnosis and management of congenital cataract by next-generation sequencing
-
doi
-
Gillespie, R.L.; O’Sullivan, J.; Ashworth, J.; Bhaskar, S.; Williams, S.; Biswas, S.; Kehdi, E.; Ramsden, S.C.; Clayton-Smith, J.; Black, G.C., et al. Personalized diagnosis and management of congenital cataract by next-generation sequencing. Ophthalmology 2014, doi:10.1016/j.ophtha.2014.06.006.
-
(2014)
Ophthalmology
-
-
Gillespie, R.L.1
O’sullivan, J.2
Ashworth, J.3
Bhaskar, S.4
Williams, S.5
Biswas, S.6
Kehdi, E.7
Ramsden, S.C.8
Clayton-Smith, J.9
Black, G.C.10
-
15
-
-
84896711144
-
Returning pleiotropic results from genetic testing to patients and research participants
-
Kocarnik, J.M.; Fullerton, S.M. Returning pleiotropic results from genetic testing to patients and research participants. JAMA 2014, 311, 795-796.
-
(2014)
JAMA
, vol.311
, pp. 795-796
-
-
Kocarnik, J.M.1
Fullerton, S.M.2
-
16
-
-
84908694537
-
-
University of Manchester, Manchester, UK. Personal Communication
-
Black, G.C. University of Manchester, Manchester, UK. Personal Communication, 2014.
-
(2014)
-
-
Black, G.C.1
-
17
-
-
84908010472
-
Managing the ethical challenges of next-generation sequencing in genomic medicine
-
Clarke, A.J. Managing the ethical challenges of next-generation sequencing in genomic medicine. Br. Med. Bull. 2014, 111, 17-30.
-
(2014)
Br. Med. Bull
, vol.111
, pp. 17-30
-
-
Clarke, A.J.1
-
18
-
-
84882877155
-
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing
-
Jones, M.A.; Rhodenizer, D.; da Silva, C.; Huff, I.J.; Keong, L.; Bean, L.J.; Coffee, B.; Collins, C.; Tanner, A.K.; He, M., et al. Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing. Mol. Genet. Metab. 2013, 110, 78-85.
-
(2013)
Mol. Genet. Metab
, vol.110
, pp. 78-85
-
-
Jones, M.A.1
Rhodenizer, D.2
Da Silva, C.3
Huff, I.J.4
Keong, L.5
Bean, L.J.6
Coffee, B.7
Collins, C.8
Tanner, A.K.9
He, M.10
-
19
-
-
84890609381
-
-
McKinsey Global Institute, Available online, accessed on 10 August 2014
-
Manyika, J.; Chui, M.; Bughin, J.; Dobbs, R.; Bisson, P.; Marrs, A. Disruptive technologies: Advances that will transform life, business, and the global economy. McKinsey Global Institute, 2013. Available online: http://www.mckinsey.com/insights/business_technology/disruptive_technologies (accessed on 10 August 2014).
-
(2013)
Disruptive technologies: Advances that will transform life, business, and the global economy
-
-
Manyika, J.1
Chui, M.2
Bughin, J.3
Dobbs, R.4
Bisson, P.5
Marrs, A.6
-
20
-
-
84885801095
-
Next-generation sequencing for clinical diagnostics
-
Jacob, H.J. Next-generation sequencing for clinical diagnostics. N. Engl. J. Med. 2013, 369, 1557-1558.
-
(2013)
N. Engl. J. Med
, vol.369
, pp. 1557-1558
-
-
Jacob, H.J.1
-
21
-
-
84867214350
-
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
-
doi
-
Saunders, C.J.; Miller, N.A.; Soden, S.E.; Dinwiddie, D.L.; Noll, A.; Alnadi, N.A.; Andraws, N.; Patterson, M.L.; Krivohlavek, L.A.; Fellis, J., et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci. Transl. Med. 2012, 4, doi:10.1126/scitranslmed.3004041.
-
(2012)
Sci. Transl. Med
, pp. 4
-
-
Saunders, C.J.1
Miller, N.A.2
Soden, S.E.3
Dinwiddie, D.L.4
Noll, A.5
Alnadi, N.A.6
Andraws, N.7
Patterson, M.L.8
Krivohlavek, L.A.9
Fellis, J.10
-
22
-
-
84862580595
-
Exome sequencing can improve diagnosis and alter patient management
-
doi
-
Dixon-Salazar, T.J.; Silhavy, J.L.; Udpa, N.; Schroth, J.; Bielas, S.; Schaffer, A.E.; Olvera, J.; Bafna, V.; Zaki, M.S.; Abdel-Salam, G.H., et al. Exome sequencing can improve diagnosis and alter patient management. Sci. Transl. Med. 2012, 4, doi:10.1126/scitranslmed.3003544.
-
(2012)
Sci. Transl. Med
, pp. 4
-
-
Dixon-Salazar, T.J.1
Silhavy, J.L.2
Udpa, N.3
Schroth, J.4
Bielas, S.5
Schaffer, A.E.6
Olvera, J.7
Bafna, V.8
Zaki, M.S.9
Abdel-Salam, G.H.10
-
23
-
-
79251645624
-
Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
-
Worthey, E.A.; Mayer, A.N.; Syverson, G.D.; Helbling, D.; Bonacci, B.B.; Decker, B.; Serpe, J.M.; Dasu, T.; Tschannen, M.R.; Veith, R.L., et al. Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet. Med. 2011, 13, 255-262.
-
(2011)
Genet. Med
, vol.13
, pp. 255-262
-
-
Worthey, E.A.1
Mayer, A.N.2
Syverson, G.D.3
Helbling, D.4
Bonacci, B.B.5
Decker, B.6
Serpe, J.M.7
Dasu, T.8
Tschannen, M.R.9
Veith, R.L.10
-
24
-
-
79959316645
-
Whole-genome sequencing for optimized patient management
-
doi
-
Bainbridge, M.N.; Wiszniewski, W.; Murdock, D.R.; Friedman, J.; Gonzaga-Jauregui, C.; Newsham, I.; Reid, J.G.; Fink, J.K.; Morgan, M.B.; Gingras, M.C., et al. Whole-genome sequencing for optimized patient management. Sci. Transl. Med. 2011, 3, doi:10.1126/scitranslmed.3002243.
-
(2011)
Sci. Transl. Med
, pp. 3
-
-
Bainbridge, M.N.1
Wiszniewski, W.2
Murdock, D.R.3
Friedman, J.4
Gonzaga-Jauregui, C.5
Newsham, I.6
Reid, J.G.7
Fink, J.K.8
Morgan, M.B.9
Gingras, M.C.10
-
25
-
-
77950475726
-
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
-
Lupski, J.R.; Reid, J.G.; Gonzaga-Jauregui, C.; Rio Deiros, D.; Chen, D.C.; Nazareth, L.; Bainbridge, M.; Dinh, H.; Jing, C.; Wheeler, D.A., et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N. Engl. J. Med. 2010, 362, 1181-1191.
-
(2010)
N. Engl. J. Med
, vol.362
, pp. 1181-1191
-
-
Lupski, J.R.1
Reid, J.G.2
Gonzaga-Jauregui, C.3
Rio Deiros, D.4
Chen, D.C.5
Nazareth, L.6
Bainbridge, M.7
Dinh, H.8
Jing, C.9
Wheeler, D.A.10
-
26
-
-
84890870849
-
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm
-
Onoufriadis, A.; Shoemark, A.; Munye, M.M.; James, C.T.; Schmidts, M.; Patel, M.; Rosser, E.M.; Bacchelli, C.; Beales, P.L.; Scambler, P.J., et al. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. J. Med. Genet. 2014, 51, 61-67.
-
(2014)
J. Med. Genet
, vol.51
, pp. 61-67
-
-
Onoufriadis, A.1
Shoemark, A.2
Munye, M.M.3
James, C.T.4
Schmidts, M.5
Patel, M.6
Rosser, E.M.7
Bacchelli, C.8
Beales, P.L.9
Scambler, P.J.10
-
27
-
-
84891347416
-
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
-
Weedon, M.N.; Cebola, I.; Patch, A.M.; Flanagan, S.E.; de Franco, E.; Caswell, R.; Rodríguez-Seguí, S.A.; Shaw-Smith, C.; Cho, C.H.; Lango A.H., et al. Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat. Genet. 2014, 46, 61-64.
-
(2014)
Nat. Genet
, vol.46
, pp. 61-64
-
-
Weedon, M.N.1
Cebola, I.2
Patch, A.M.3
Flanagan, S.E.4
De Franco, E.5
Caswell, R.6
Rodríguez-Seguí, S.A.7
Shaw-Smith, C.8
Cho, C.H.9
Lango, A.H.10
-
28
-
-
84904465224
-
Genome sequencing identifies major causes of severe intellectual disability
-
Gilissen, C.; Hehir-Kwa, J.Y.; Thung, D.T.; van de Vorst, M.; van Bon, B.W.; Willemsen, M.H.; Kwint, M.; Janssen, I.M.; Hoischen, A.; Schenck, A., et al. Genome sequencing identifies major causes of severe intellectual disability. Nature 2014, 511, 344-347.
-
(2014)
Nature
, vol.511
, pp. 344-347
-
-
Gilissen, C.1
Hehir-Kwa, J.Y.2
Thung, D.T.3
Van De Vorst, M.4
Van Bon, B.W.5
Willemsen, M.H.6
Kwint, M.7
Janssen, I.M.8
Hoischen, A.9
Schenck, A.10
-
29
-
-
84908694536
-
-
NHLBI GO Exome Sequencing Project (ESP). Available online, accessed on 10 August 2014
-
Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP). Available online: http://evs.gs.washington.edu/EVS/ (accessed on 10 August 2014).
-
-
-
-
30
-
-
84906926675
-
Changing genetic paradigms: Creating next-generation genetic databases as tools to understand the emerging complexities of genotype/phenotype relationships
-
doi
-
Gottlieb, B.; Beitel, L.K.; Trifiro, M. Changing genetic paradigms: Creating next-generation genetic databases as tools to understand the emerging complexities of genotype/phenotype relationships. Hum. Genomics 2014, 8, doi:10.1186/1479-7364-8-9.
-
(2014)
Hum. Genomics
, pp. 8
-
-
Gottlieb, B.1
Beitel, L.K.2
Trifiro, M.3
-
31
-
-
84863970074
-
De novo mutations in human genetic disease
-
Veltman, J.A.; Brunner, H.G. De novo mutations in human genetic disease. Nat. Rev. Genet. 2012, 13, 565-575.
-
(2012)
Nat. Rev. Genet
, vol.13
, pp. 565-575
-
-
Veltman, J.A.1
Brunner, H.G.2
-
32
-
-
82255162545
-
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
-
Raychaudhuri, S.; Iartchouk, O.; Chin, K.; Tan, P.L.; Tai, A.K.; Ripke, S.; Gowrisankar, S.; Vemuri, S.; Montgomery, K.; Yu, Y., et al. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat. Genet. 2011, 43, 1232-1236.
-
(2011)
Nat. Genet
, vol.43
, pp. 1232-1236
-
-
Raychaudhuri, S.1
Iartchouk, O.2
Chin, K.3
Tan, P.L.4
Tai, A.K.5
Ripke, S.6
Gowrisankar, S.7
Vemuri, S.8
Montgomery, K.9
Yu, Y.10
-
33
-
-
84888183132
-
Genomes of 100,000 people will be sequenced to create an open access research resource
-
doi
-
Torjesen, I. Genomes of 100,000 people will be sequenced to create an open access research resource. Br. Med. J. 2013, 347, doi:10.1136/bmj.f6690.
-
(2013)
Br. Med. J
, pp. 347
-
-
Torjesen, I.1
-
34
-
-
84891749517
-
The Human Phenotype Ontology project: Linking molecular biology and disease through phenotype data
-
Köhler, S.; Doelken, S.C.; Mungall, C.J.; Bauer, S.; Firth, H.V.; Bailleul-Forestier, I.; Black, G.C.; Brown, D.L.; Brudno, M.; Campbell, J., et al. The Human Phenotype Ontology project: Linking molecular biology and disease through phenotype data. Nucleic Acids Res. 2014, 42, D966-D974.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. D966-D974
-
-
Köhler, S.1
Doelken, S.C.2
Mungall, C.J.3
Bauer, S.4
Firth, H.V.5
Bailleul-Forestier, I.6
Black, G.C.7
Brown, D.L.8
Brudno, M.9
Campbell, J.10
-
35
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
Green, R.C.; Berg, J.S.; Grody, W.W.; Kalia, S.S.; Korf, B.R.; Martin, C.L.; McGuire, A.L.; Nussbaum, R.L.; O’Daniel, J.M.; Ormond, K.E., et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 2013, 15, 565-574.
-
(2013)
Genet. Med
, vol.15
, pp. 565-574
-
-
Green, R.C.1
Berg, J.S.2
Grody, W.W.3
Kalia, S.S.4
Korf, B.R.5
Martin, C.L.6
McGuire, A.L.7
Nussbaum, R.L.8
O’daniel, J.M.9
Ormond, K.E.10
-
36
-
-
84881420673
-
Whole-genome sequencing in health care: Recommendations of the European Society of Human Genetics
-
Van El, C.G.; Cornel, M.C.; Borry, P.; Hastings, R.J.; Fellmann, F.; Hodgson, S.V.; Howard, H.C.; Cambon-Thomsen, A.; Knoppers, B.M.; Meijers-Heijboer, H., et al. Whole-genome sequencing in health care: Recommendations of the European Society of Human Genetics. Eur. J. Hum. Genet. 2013, 21, 580-584.
-
(2013)
Eur. J. Hum. Genet
, vol.21
, pp. 580-584
-
-
Van El, C.G.1
Cornel, M.C.2
Borry, P.3
Hastings, R.J.4
Fellmann, F.5
Hodgson, S.V.6
Howard, H.C.7
Cambon-Thomsen, A.8
Knoppers, B.M.9
Meijers-Heijboer, H.10
-
37
-
-
84880423883
-
Reporting genomic sequencing results to ordering clinicians: Incidental, but not exceptional
-
Green, R.C.; Lupski, J.R.; Biesecker, L.G. Reporting genomic sequencing results to ordering clinicians: Incidental, but not exceptional. JAMA 2013, 310, 365-366.
-
(2013)
JAMA
, vol.310
, pp. 365-366
-
-
Green, R.C.1
Lupski, J.R.2
Biesecker, L.G.3
-
38
-
-
0016385507
-
Routine newborn screening for histidinemia. Clinical and biochemical results
-
Levy, H.L.; Shih, V.E.; Madigan, P.M. Routine newborn screening for histidinemia. Clinical and biochemical results. N. Engl. J. Med. 1974, 291, 1214-1219.
-
(1974)
N. Engl. J. Med
, vol.291
, pp. 1214-1219
-
-
Levy, H.L.1
Shih, V.E.2
Madigan, P.M.3
-
39
-
-
84873412581
-
Valuing the economic benefits of complex interventions: When maximising health is not sufficient
-
Payne, K.; McAllister, M.; Davies, L.M. Valuing the economic benefits of complex interventions: When maximising health is not sufficient. Health Econ. 2013, 22, 258-271.
-
(2013)
Health Econ
, vol.22
, pp. 258-271
-
-
Payne, K.1
McAllister, M.2
Davies, L.M.3
|