-
1
-
-
33745314874
-
Clinical genetic evaluation of the child with mental retardation or developmental delays
-
Moeschler J, Shevell M. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 117, 2304 (2006
-
(2006)
Pediatrics
, vol.117
, pp. 2304
-
-
Moeschler, J.1
Shevell, M.2
-
2
-
-
82955235679
-
Evidence report of the quality standards subcommittee of the american academy of neurology and the practice committee of the child neurology society
-
Michaelson D, Shevell M, Sherr E et al. Evidence Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 77, 1629-1635 (2011
-
(2011)
Neurology
, vol.77
, pp. 1629-1635
-
-
Michaelson, D.1
Shevell, M.2
Sherr, E.3
-
3
-
-
79955030459
-
Autism spectrum disorders-A genetics review
-
Miles J. Autism spectrum disorders-A genetics review. Genet. Med. 13, 278-294 (2011
-
(2011)
Genet. Med
, vol.13
, pp. 278-294
-
-
Miles, J.1
-
4
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of Mendelian disorders
-
Yang Y, Muzny D, Reid J et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N. Engl. J. Med. 369(16), 1502-1511 (2013
-
(2013)
N. Engl. J. Med
, vol.369
, Issue.16
, pp. 1502-1511
-
-
Yang, Y.1
Muzny, D.2
Reid, J.3
-
5
-
-
84875932002
-
New approaches to molecular diagnosis
-
Korf B, Rehm H. New approaches to molecular diagnosis. JAMA 309, 1511-1521 (2013
-
(2013)
JAMA
, vol.309
, pp. 1511-1521
-
-
Korf, B.1
Rehm, H.2
-
8
-
-
84899493194
-
-
Athena Diagnostics®.www.athenadiagnostics.com/content/test-catalog
-
Athena Diagnostics®
-
-
-
10
-
-
78049300625
-
A universal carrier test for the long tail of Mendelian disease
-
Srinivasan B, Evans E, Flannick J et al. A universal carrier test for the long tail of Mendelian disease. Reprod. Biomed. Online 21, 537-551 (2010
-
(2010)
Reprod. Biomed. Online
, vol.21
, pp. 537-551
-
-
Srinivasan, B.1
Evans, E.2
Flannick, J.3
-
11
-
-
78649635514
-
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
-
Manning M, Hudgins L. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet. Med. 12, 742-745 (2010
-
(2010)
Genet. Med
, vol.12
, pp. 742-745
-
-
Manning, M.1
Hudgins, L.2
-
12
-
-
77955066856
-
PARP inhibitors in BRCA1/BRCA2 germline mutation carriers with ovarian and breast cancer
-
Annuziata C, Bates S. PARP inhibitors in BRCA1/BRCA2 germline mutation carriers with ovarian and breast cancer. F1000 Biol. Reports 2, 10 (2010
-
(2010)
F1000 Biol. Reports
, vol.2
, pp. 10
-
-
Annuziata, C.1
Bates, S.2
-
13
-
-
84878119323
-
Managing incidental genomic findings: Legal obligations of clinicians
-
Clayton EW, Haga S, Kuszler P, Bane E, Shutske K, Burke W. Managing incidental genomic findings: Legal obligations of clinicians. Genet. Med. 15, 624-629 (2013
-
(2013)
Genet. Med
, vol.15
, pp. 624-629
-
-
Clayton, E.W.1
Haga, S.2
Kuszler, P.3
Bane, E.4
Shutske, K.5
Burke, W.6
-
14
-
-
84881420673
-
Whole genome sequnecing in health care: Recommendations of the European Society of Human Genetics
-
van El CG, Cornel MC, Borry P et al. Whole genome sequnecing in health care: Recommendations of the European Society of Human Genetics. Eur. J. Hum. Genet. 21, 580-584 (2013
-
(2013)
Eur. J. Hum. Genet
, vol.21
, pp. 580-584
-
-
Van El, C.G.1
Cornel, M.C.2
Borry, P.3
-
15
-
-
84876809749
-
Practices and policies of clinical exome sequencing providers: Analysis and implications
-
Jamal S, Yu J-H, Chong J et al. Practices and policies of clinical exome sequencing providers: Analysis and implications. Am. J. Med. Genet. 161A, 935-950 (2013
-
(2013)
Am. J. Med. Genet
, vol.161 A
, pp. 935-950
-
-
Jamal, S.1
Yu, J.-H.2
Chong, J.3
-
16
-
-
79959532375
-
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
-
Hannibal M, Buckingham K, Ng S et al. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am. J. Med. Genet. 155A, 1511-1516 (2011
-
(2011)
Am. J. Med. Genet
, vol.155 A
, pp. 1511-1516
-
-
Hannibal, M.1
Buckingham, K.2
Ng, S.3
-
17
-
-
77957724879
-
Compound heterozygosity for loss-of-function lysyl-TRNA synthetase mutations in a patient with peripheral neuropathy
-
McLaughlin H, Sakaguchi R, Liu C et al. Compound heterozygosity for loss-of-function lysyl-TRNA synthetase mutations in a patient with peripheral neuropathy. Am. J. Hum. Genet. 8, 560-566 (2010
-
(2010)
Am. J. Hum. Genet
, vol.8
, pp. 560-566
-
-
McLaughlin, H.1
Sakaguchi, R.2
Liu, C.3
-
18
-
-
73349110071
-
Exome sequencing identifies the cause of a mendelian disorder
-
Ng S, Buckingham K, Lee C et al. Exome sequencing identifies the cause of a mendelian disorder. Nat. Genet. 42, 30-35 (2010
-
(2010)
Nat. Genet
, vol.42
, pp. 30-35
-
-
Ng, S.1
Buckingham, K.2
Lee, C.3
-
19
-
-
79251645624
-
Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
-
Worthey E, Mayer A, Syverson G et al. Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet. Med. 13, 255-262 (2011
-
(2011)
Genet. Med
, vol.13
, pp. 255-262
-
-
Worthey, E.1
Mayer, A.2
Syverson, G.3
-
20
-
-
84880722389
-
A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and Loeys-Dietz syndrome
-
Rienhoff HJ, Yeo C, Morissette R et al. A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and Loeys-Dietz syndrome. Am. J. Med. Genet. Part A 161A(8), 2040-2046 (2013
-
(2013)
Am. J. Med. Genet. Part A.
, vol.161 A
, Issue.8
, pp. 2040-2046
-
-
Rienhoff, H.J.1
Yeo, C.2
Morissette, R.3
-
21
-
-
84867214350
-
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
-
154ra135
-
Saunders C, Miller N, Soden S et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci. Transl. Med. 4, 154ra135 (2012
-
(2012)
Sci. Transl. Med
, vol.4
-
-
Saunders, C.1
Miller, N.2
Soden, S.3
-
22
-
-
84898053096
-
-
The Cancer Genome Atlas
-
The Cancer Genome Atlas. Understanding genomics to improve cancer care.http://cancergenome.nih.gov/researchhighlights/perspectives/ levineperspective
-
Understanding genomics to improve cancer care
-
-
-
23
-
-
77951589703
-
Clinical evaluation incorporating a personal genome
-
Ashley E, Butte A, Wheeler M et al. Clinical evaluation incorporating a personal genome. Lancet 375, 1525-1535 (2010
-
(2010)
Lancet
, vol.375
, pp. 1525-1535
-
-
Ashley, E.1
Butte, A.2
Wheeler, M.3
-
24
-
-
80053447840
-
Phased whole-genome genetic risk in a family quartet using a major allele reference sequence
-
Dewey F, Chen R, Cordero S et al. Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. PLoS Genet. 7, e1002280 (2011
-
(2011)
PLoS Genet
, vol.7
-
-
Dewey, F.1
Chen, R.2
Cordero, S.3
-
25
-
-
84882908509
-
Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-Targeted next-generation sequencing
-
Hollegaard M, Grauholm J, Nielsen R et al. Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-Targeted next-generation sequencing. Mol. Genet. Metab. 110(1-2), 65-72 (2013
-
(2013)
Mol. Genet. Metab
, vol.110
, Issue.1-2
, pp. 65-72
-
-
Hollegaard, M.1
Grauholm, J.2
Nielsen, R.3
-
26
-
-
84893627397
-
Parents' interest in whole-genome sequencing of newborns
-
Goldenberg A, Dodson D, Davis M, Tarini B. Parents' interest in whole-genome sequencing of newborns. Genet. Med. 16(1), 78-84 (2013
-
(2013)
Genet. Med
, vol.16
, Issue.1
, pp. 78-84
-
-
Goldenberg, A.1
Dodson, D.2
Davis, M.3
Tarini, B.4
-
27
-
-
77952101271
-
Challenges in the clinical application of whole-genome sequencing
-
Ormond KE, Wheeler MT, Hudgins L et al. Challenges in the clinical application of whole-genome sequencing. Lancet 375(9727), 1749-1751 (2010
-
(2010)
Lancet
, vol.375
, Issue.9727
, pp. 1749-1751
-
-
Ormond, K.E.1
Wheeler, M.T.2
Hudgins, L.3
-
28
-
-
84855566198
-
Performance comparison of whole-genome sequencing platforms
-
LAm. HYK, Clark MJ, Chen R et al. Performance comparison of whole-genome sequencing platforms. Nature 30(1), 78-82 (2011
-
(2011)
Nature
, vol.30
, Issue.1
, pp. 78-82
-
-
Lam, H.Y.K.1
Clark, M.J.2
Chen, R.3
-
29
-
-
84875312984
-
Low concordance of multiple variant-calling pipelines: Practical implications for exome and genome sequencing
-
O'rawe J, Jiang T, Sun G et al. Low concordance of multiple variant-calling pipelines: Practical implications for exome and genome sequencing. Genome Med. 5, 28 (2013
-
(2013)
Genome Med
, vol.5
, pp. 28
-
-
O'rawe, J.1
Jiang, T.2
Sun, G.3
-
30
-
-
84904252658
-
Incidental findings from clinical genome-wide sequencing: A review
-
doi:10.1007/s10897-013-9604-4 Epub ahead of print
-
Lohn Z, Adam S, Birch P, Friedman J. Incidental findings from clinical genome-wide sequencing: A review. J. Genet. Couns. doi:10.1007/s10897-013-9604-4 (2013) (Epub ahead of print
-
(2013)
J. Genet. Couns
-
-
Lohn, Z.1
Adam, S.2
Birch, P.3
Friedman, J.4
-
32
-
-
79959276553
-
Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time
-
Berg J, Khoury M, Evans J. Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time. Genet. Med. 13, 499-504 (2011
-
(2011)
Genet. Med
, vol.13
, pp. 499-504
-
-
Berg, J.1
Khoury, M.2
Evans, J.3
-
33
-
-
84904269535
-
Assessing views of genetics health professionals toward the return of genomic results
-
doi:10.1007/s10897-013-9611-5 Epub ahead of print
-
Grove M, Wolpert M, Cho M, Lee S, Ormond K. Assessing views of genetics health professionals toward the return of genomic results. J. Genet. Couns. doi:10.1007/s10897-013-9611-5 (2013) (Epub ahead of print
-
(2013)
J. Genet. Couns
-
-
Grove, M.1
Wolpert, M.2
Cho, M.3
Lee, S.4
Ormond, K.5
-
34
-
-
84883892605
-
Self-guided management of exome and whole-genome sequencing results: Changing the results return model
-
Yu J, Jamal S, Tabor H, Bamshad M. Self-guided management of exome and whole-genome sequencing results: Changing the results return model. Genet. Med. 15(9), 684-690 (2013
-
(2013)
Genet. Med
, vol.15
, Issue.9
, pp. 684-690
-
-
Yu, J.1
Jamal, S.2
Tabor, H.3
Bamshad, M.4
-
35
-
-
84874197574
-
Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing
-
Lohn Z, Adam S, Birch P, Townsend A, Friedman J. Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing. Am. J. Med. Genet. 161, 542-549 (2013
-
(2013)
Am. J. Med. Genet
, vol.161
, pp. 542-549
-
-
Lohn, Z.1
Adam, S.2
Birch, P.3
Townsend, A.4
Friedman, J.5
-
36
-
-
84859577332
-
Exploring concordance and discordance for return of incidental findings from clinical sequencing
-
Green R, Berg J, Berry G et al. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet. Med. 14, 405-410 (2012
-
(2012)
Genet. Med
, vol.14
, pp. 405-410
-
-
Green, R.1
Berg, J.2
Berry, G.3
-
37
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
Green R, Berg J, Grody W et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 15, 565-574 (2013
-
(2013)
Genet. Med
, vol.15
, pp. 565-574
-
-
Green, R.1
Berg, J.2
Grody, W.3
-
38
-
-
84878354128
-
Point-counterpoint. Ethics and genomic incidental findings
-
McGuire A, Joffe S, Koenig B et al. Point-counterpoint. Ethics and genomic incidental findings. Science 340, 1049-1050 (2013
-
(2013)
Science
, vol.340
, pp. 1049-1050
-
-
McGuire, A.1
Joffe, S.2
Koenig, B.3
-
39
-
-
84880423883
-
Reporting genomic sequencing results to ordering clinicians: Incidental, but not exceptional
-
Green RC, Lupski JR, Biesecker LG. Reporting genomic sequencing results to ordering clinicians: Incidental, but not exceptional. JAMA 310, 365-366 (2013
-
(2013)
JAMA
, vol.310
, pp. 365-366
-
-
Green, R.C.1
Lupski, J.R.2
Biesecker, L.G.3
-
40
-
-
84878364688
-
Point-counterpoint. Patient autonomy and incidental findings in clinical genomics
-
Wolf S, Annas G, Elias S. Point-counterpoint. Patient autonomy and incidental findings in clinical genomics. Science 340, 1049-1050 (2013
-
(2013)
Science
, vol.340
, pp. 1049-1050
-
-
Wolf, S.1
Annas, G.2
Elias, S.3
-
41
-
-
84880421555
-
Return of secondary genomic findings vs patient autonomy: Implications for medical care
-
Klitzman R, Appelbaum PS, Chung W. Return of secondary genomic findings vs patient autonomy: Implications for medical care. JAMA 310, 369-370 (2013
-
(2013)
JAMA
, vol.310
, pp. 369-370
-
-
Klitzman, R.1
Appelbaum, P.S.2
Chung, W.3
-
42
-
-
84880411296
-
Mandatory extended searches in all genome sequencing: Incidental findings,' patient autonomy, and shared decision making
-
Ross LF, Rothstein MA, Clayton EW. Mandatory extended searches in all genome sequencing: 'incidental findings,' patient autonomy, and shared decision making. JAMA 310, 367-368 (2013
-
(2013)
JAMA
, vol.310
, pp. 367-368
-
-
Ross, L.F.1
Rothstein, M.A.2
Clayton, E.W.3
-
44
-
-
84874115570
-
Quality in genetic counselling for presymptomatic testing-clinical guidelines for practice across the range of genetic conditions
-
Skirton H, Goldsmith L, Jackson L, Tibben A. Quality in genetic counselling for presymptomatic testing-clinical guidelines for practice across the range of genetic conditions. Eur. J. Hum. Genet. 21, 256-260 (2013
-
(2013)
Eur. J. Hum. Genet
, vol.21
, pp. 256-260
-
-
Skirton, H.1
Goldsmith, L.2
Jackson, L.3
Tibben, A.4
-
45
-
-
62349121843
-
Psychosocial outcomes after genetic testing
-
Cameron L, Muller C. Psychosocial outcomes after genetic testing. Curr. Opin. Psychiatry 22, 218-223 (2009
-
(2009)
Curr. Opin. Psychiatry
, vol.22
, pp. 218-223
-
-
Cameron, L.1
Muller, C.2
-
46
-
-
0028761242
-
Generic consent for genetic screening
-
Elias S, Annas G. Generic consent for genetic screening. N. Engl. J. Med. 330, 1611-1613 (1994
-
(1994)
N. Engl. J. Med
, vol.330
, pp. 1611-1613
-
-
Elias, S.1
Annas, G.2
-
47
-
-
59849085993
-
Assessing the understanding of biobank participants
-
Ormond K, Cirino A, Helenowski I, Chisholm R, Wolf W. Assessing the understanding of biobank participants. Am. J. Med. Genet. 149A, 188-198 (2009
-
(2009)
Am. J. Med. Genet
, vol.149 A
, pp. 188-198
-
-
Ormond, K.1
Cirino, A.2
Helenowski, I.3
Chisholm, R.4
Wolf, W.5
-
48
-
-
84885011052
-
Willingness to participate in genomics research and desire for personal results among underrepresented minority patients: A structured interview study
-
Sanderson SC, Zinberg R, Horowitz CR et al. Willingness to participate in genomics research and desire for personal results among underrepresented minority patients: A structured interview study. J. Commun. Genet. 4(4), 469-482 (2013
-
(2013)
J. Commun. Genet
, vol.4
, Issue.4
, pp. 469-482
-
-
Sanderson, S.C.1
Zinberg, R.2
Horowitz, C.R.3
-
49
-
-
84874108148
-
Intentions to receive individual results from whole-genome sequencing among participants in theClinSeq study
-
Facio F, Eidem H, Fisher T et al. Intentions to receive individual results from whole-genome sequencing among participants in theClinSeq study. Eur. J. Hum. Genet. 21, 261-265 (2013
-
(2013)
Eur. J. Hum. Genet
, vol.21
, pp. 261-265
-
-
Facio, F.1
Eidem, H.2
Fisher, T.3
-
50
-
-
84873059791
-
Enhancing family communication about genetics: Ethical and professional dilemmas
-
Hodgson J, Gaff C. Enhancing family communication about genetics: Ethical and professional dilemmas. J. Genet. Couns. 22, 16-21 (2013
-
(2013)
J. Genet. Couns
, vol.22
, pp. 16-21
-
-
Hodgson, J.1
Gaff, C.2
-
54
-
-
84899482771
-
-
Watters v White.http://pattersonlaw.ca/PattersonBlogs/ MedicalMalpracticeBlog/tabid/268/EntryId/77/What-To-Say-Do-Doctors-Have-A-Duty- To-Disclose-Confidential-Information.aspx
-
White
-
-
Watters, V.1
-
55
-
-
33646223953
-
-
661, So 2d 278 (Fla
-
Pate v Threlkel, 661, So 2d 278 (Fla 1995
-
(1995)
Threlkel
-
-
Pate, V.1
-
56
-
-
84899481987
-
Introduction to the enquiry: Essentially yours
-
Australian Law Reform Commission Australian Government, Australian Law Reform Commission, Sydney, Australia
-
Australian Law Reform Commission. Introduction to the enquiry: Essentially yours. In: The Protection of Human Genetic Information in Australia. Australian Government, Australian Law Reform Commission, Sydney, Australia (1996
-
(1996)
The Protection of Human Genetic Information in Australia
-
-
-
57
-
-
84875178404
-
Technical report: Ethical and policy issues in genetic testing and screening of children
-
Ross L, Saal H, David K, Anderson R. Technical report: Ethical and policy issues in genetic testing and screening of children. Genet. Med. 15, 234-245 (2013
-
(2013)
Genet. Med
, vol.15
, pp. 234-245
-
-
Ross, L.1
Saal, H.2
David, K.3
Anderson, R.4
-
58
-
-
0034881346
-
Predictive genetic testing in children and adults: A study of emotional impact
-
Michie S, Bobrow M, Marteau TM. Predictive genetic testing in children and adults: A study of emotional impact. J. Med. Genet. 38, 519-526 (2001
-
(2001)
J. Med. Genet
, vol.38
, pp. 519-526
-
-
Michie, S.1
Bobrow, M.2
Marteau, T.M.3
-
59
-
-
12244260094
-
Genetic testing for hereditary colorectal cancer in children: Long-Term psychological effects
-
Codori AM, Zawacki KL, Petersen GM et al. Genetic testing for hereditary colorectal cancer in children: Long-Term psychological effects. Am. J. Med. Genet. A. 116A, 117-128 (2003
-
(2003)
Am. J. Med. Genet. A.
, vol.116 A
, pp. 117-128
-
-
Codori, A.M.1
Zawacki, K.L.2
Petersen, G.M.3
-
60
-
-
14944379478
-
Intellectual property. Patents on human genes: An analysis of scope and claims
-
Paradise J, Andrews L, Holbrook T. Intellectual property. Patents on human genes: An analysis of scope and claims. Science 307(5715), 1566-1567 (2005
-
(2005)
Science
, vol.307
, Issue.5715
, pp. 1566-1567
-
-
Paradise, J.1
Andrews, L.2
Holbrook, T.3
-
61
-
-
26844464326
-
Intellectual property landscape of the human genome
-
Jensen K, Murray F. Intellectual property landscape of the human genome. Science 310(5746), 239-240 (2005
-
(2005)
Science
, vol.310
, Issue.5746
, pp. 239-240
-
-
Jensen, K.1
Murray, F.2
-
62
-
-
84875336972
-
Pervasive sequence patents cover the entire human genome
-
Rosenfeld J, Mason CE. Pervasive sequence patents cover the entire human genome. Genome Med. 5(3), 27-27 (2013
-
(2013)
Genome Med
, vol.5
, Issue.3
, pp. 27-27
-
-
Rosenfeld, J.1
Mason, C.E.2
-
64
-
-
0037436166
-
Science and the law. Working through the patent problem
-
Walsh JP, Cohen WM, Arora A. Science and the law. Working through the patent problem. Science 299(5609), 1021 (2003
-
(2003)
Science
, vol.299
, Issue.5609
, pp. 1021
-
-
Walsh, J.P.1
Cohen, W.M.2
Arora, A.3
-
65
-
-
0030903440
-
Withholding research results in academic life science
-
Blumenthal D, Campbell EG, Anderson MS, Causino N, Louis KS. Withholding research results in academic life science. JAMA 277(15), 1224-1228 (1997
-
(1997)
JAMA
, vol.277
, Issue.15
, pp. 1224-1228
-
-
Blumenthal, D.1
Campbell, E.G.2
Anderson, M.S.3
Causino, N.4
Louis, K.S.5
-
66
-
-
0037320920
-
Effects of patents and licenses on the provision of clinical genetic testing services
-
Cho MK, Illangasekare S, Weaver MA, Leonard DG, Merz JF. Effects of patents and licenses on the provision of clinical genetic testing services. J. Mol. Diagn 5(1), 3-8 (2003
-
(2003)
J. Mol. Diagn
, vol.5
, Issue.1
, pp. 3-8
-
-
Cho, M.K.1
Illangasekare, S.2
Weaver, M.A.3
Leonard, D.G.4
Merz, J.F.5
-
67
-
-
0034871301
-
How human geneticists in US view commercialization of the Human Genome Project
-
Rabino II. How human geneticists in US view commercialization of the Human Genome Project. Nat. Genet. 29(1), 15-16 (2001
-
(2001)
Nat. Genet
, vol.29
, Issue.1
, pp. 15-16
-
-
Rabino, I.I.1
-
68
-
-
77951486616
-
Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis
-
Chandrasekharan S, Heaney C, James T, Conover C, Cook-Deegan R. Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis. Genet. Med. 12, S194-S211 (2010
-
(2010)
Genet. Med
, vol.12
-
-
Chandrasekharan, S.1
Heaney, C.2
James, T.3
Conover, C.4
Cook-Deegan, R.5
-
69
-
-
77951479651
-
Impact of gene patents and licensing practices on access to genetic testing for inherited susceptibility to cancer: Comparing breast and ovarian cancers with colon cancers
-
Cook-Deegan R, Derienzo C, Carbone J, Chandrasekharan S, Heaney C, Conover C. Impact of gene patents and licensing practices on access to genetic testing for inherited susceptibility to cancer: Comparing breast and ovarian cancers with colon cancers. Genet. Med. 12, S15-S38 (2010
-
(2010)
Genet. Med
, vol.12
-
-
Cook-Deegan, R.1
Derienzo, C.2
Carbone, J.3
Chandrasekharan, S.4
Heaney, C.5
Conover, C.6
-
70
-
-
81255206815
-
-
US District Court Southern District of New York. Patent and Trademark Office. rfeti US District Court Southern District of New York NY USA 1-156
-
US District Court Southern District of New York. Association of Molecular Pathology v. United States Patent and Trademark Office. US District Court Southern District of New York NY, USA, 1-156 (2010
-
(2010)
Association of Molecular Pathology v. United States
-
-
-
71
-
-
33645084562
-
Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer
-
Walsh T, Casadei S, Coats KH et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 295(12), 1379-1388 (2006
-
(2006)
JAMA
, vol.295
, Issue.12
, pp. 1379-1388
-
-
Walsh, T.1
Casadei, S.2
Coats, K.H.3
-
72
-
-
77955439715
-
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
-
Walsh T, Lee MK, Casadei S et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc. Natl Acad. Sci. USA 107(28), 12629-12633 (2010
-
(2010)
Proc. Natl Acad. Sci. USA
, vol.107
, Issue.28
, pp. 12629-12633
-
-
Walsh, T.1
Lee, M.K.2
Casadei, S.3
-
74
-
-
0032076909
-
Can patents deter innovation? The anticommons in biomedical research
-
Heller MA, Eisenberg R. Can patents deter innovation? The anticommons in biomedical research. Science 280(5364), 698-701 (1998
-
(1998)
Science
, vol.280
, Issue.5364
, pp. 698-701
-
-
Heller, M.A.1
Eisenberg, R.2
-
75
-
-
84899487866
-
-
23andMe.www.23andme.com/health/BRCA-Cancer
-
23 andMe
-
-
-
77
-
-
84859583108
-
Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: Lessons from the ClinSeq project
-
Biesecker LG. Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: Lessons from the ClinSeq project. Genet. Med. 14(4), 393-398 (2012
-
(2012)
Genet. Med
, vol.14
, Issue.4
, pp. 393-398
-
-
Biesecker, L.G.1
-
78
-
-
0033547325
-
Survey confirms fears about licensing of genetic tests
-
Schissel A, Merz JF, Cho MK. Survey confirms fears about licensing of genetic tests. Nature 402(6758), 118 (1999
-
(1999)
Nature
, vol.402
, Issue.6758
, pp. 118
-
-
Schissel, A.1
Merz, J.F.2
Cho, M.K.3
-
80
-
-
85018821895
-
DNA project aims to make company's data public
-
12th April
-
Kolata G. DNA project aims to make company's data public. The New York Times, 12th April (2013
-
(2013)
The New York Times
-
-
Kolata, G.1
-
81
-
-
84878714289
-
Genetics push for global data-sharing
-
Check Hayden E. Genetics push for global data-sharing. Nature 498, 16-17 (2013
-
(2013)
Nature
, vol.498
, pp. 16-17
-
-
Check Hayden, E.1
-
82
-
-
52949089274
-
The current landscape for direct-To-consumer genetic testing: Legal, ethical, and policy issues
-
Hogarth S, Javitt G, Melzer D. The current landscape for direct-To-consumer genetic testing: Legal, ethical, and policy issues. Annu. Rev. Genomics Hum. Genet. 9, 161-182 (2008
-
(2008)
Annu. Rev. Genomics Hum. Genet
, vol.9
, pp. 161-182
-
-
Hogarth, S.1
Javitt, G.2
Melzer, D.3
-
83
-
-
58149327181
-
The regulation of direct-To-consumer genetic tests
-
Kaye J. The regulation of direct-To-consumer genetic tests. Hum. Mol. Genet. 17(R2), R180-R183 (2008
-
(2008)
Hum. Mol. Genet
, vol.17
, Issue.R2
-
-
Kaye, J.1
-
84
-
-
78049402767
-
-
Direct-To-consumer Genetic Tests: Misleading Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices. US Government Accountability Office, DC, USA 1-33
-
Kutz G. Testimony Before the Subcommittee on Oversight and Investigations, Committee on Energy and Commerce, House of Representatives. Direct-To-consumer Genetic Tests: Misleading Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices. US Government Accountability Office, DC, USA, 1-33 (2010
-
(2010)
Testimony Before the Subcommittee on Oversight and Investigations, Committee on Energy and Commerce, House of Representatives
-
-
Kutz, G.1
-
85
-
-
84872450521
-
-
Presidential Commission for the Study of Bioethical Issues. US Department of Health & Human Services, DC, USA, 1-154
-
Presidential Commission for the Study of Bioethical Issues. Privacy and Progress in Whole Genome Sequencing. US Department of Health & Human Services, DC, USA, 1-154 (2012
-
(2012)
Privacy and Progress in Whole Genome Sequencing
-
-
-
87
-
-
84863725841
-
Legislation on direct-To-consumer genetic testing in seven European countries
-
Borry P, Van Hellemondt RE, Sprumont D et al. Legislation on direct-To-consumer genetic testing in seven European countries. Eur. J. Hum. Genet. 20(7), 715-721 (2012
-
(2012)
Eur. J. Hum. Genet
, vol.20
, Issue.7
, pp. 715-721
-
-
Borry, P.1
Van Hellemondt, R.E.2
Sprumont, D.3
-
89
-
-
70350369651
-
Council of Europe adopts protocol on genetic testing for health purposes
-
Lwoff L. Council of Europe adopts protocol on genetic testing for health purposes. Eur. J. Hum. Genet. 17, 374-1377 (2009
-
(2009)
Eur. J. Hum. Genet
, vol.17
, pp. 374-1377
-
-
Lwoff, L.1
-
90
-
-
84899477441
-
-
US FDA: In vitro diagnostics.www.fda.gov/MedicalDevices/ ProductsandMedicalProcedures/InVitroDiagnostics/default.htm
-
US FDA: In vitro diagnostics
-
-
-
94
-
-
77953149045
-
Evaluating re-identification risks with respect to the HIPAA privacy rule
-
Benitez K, Malin B. Evaluating re-identification risks with respect to the HIPAA privacy rule. BMJ 17(2), 169 (2010
-
(2010)
BMJ
, vol.17
, Issue.2
, pp. 169
-
-
Benitez, K.1
Malin, B.2
-
95
-
-
3042849144
-
Genomic research and human subject privacy
-
Lin Z, Owen AB, Altman RB. Genomic research and human subject privacy. Science 305, 183 (2004
-
(2004)
Science
, vol.305
, pp. 183
-
-
Lin, Z.1
Owen, A.B.2
Altman, R.B.3
-
96
-
-
84860329478
-
Bayesian method to predict individual SNP genotypes from gene expression data
-
Schadt EE, Woo S, Hao K. Bayesian method to predict individual SNP genotypes from gene expression data. Nat. Genet. 44(5), 603-608 (2012
-
(2012)
Nat. Genet
, vol.44
, Issue.5
, pp. 603-608
-
-
Schadt, E.E.1
Woo, S.2
Hao, K.3
-
97
-
-
50849101381
-
Resolving individuals contributing trace amounts of dna to highly complex mixtures using high-density snp genotyping microarrays
-
Homer N, Szelinger S, Redman M et al. Resolving individuals contributing trace amounts of dna to highly complex mixtures using high-density snp genotyping microarrays. PLoS Genetics 4(8), e1000167 (2008
-
(2008)
PLoS Genetics
, vol.4
, Issue.8
-
-
Homer, N.1
Szelinger, S.2
Redman, M.3
-
98
-
-
84859488836
-
On sharing quantitative trait GWAS results in an era of multiple-omics data and the limits of genomic privacy
-
Im HK, Gamazon ER, Nicolae DL, Cox NJ. On sharing quantitative trait GWAS results in an era of multiple-omics data and the limits of genomic privacy. Am. J. Hum. Genet. 90(4), 591-598 (2012
-
(2012)
Am. J. Hum. Genet
, vol.90
, Issue.4
, pp. 591-598
-
-
Im, H.K.1
Gamazon, E.R.2
Nicolae, D.L.3
Cox, N.J.4
-
99
-
-
84871732071
-
Genomic variation landscape of the human gut microbiome
-
Schloissnig S, Arumugam M, Sunagawa S et al. Genomic variation landscape of the human gut microbiome. Nature 493(7430), 45-50 (2012
-
(2012)
Nature
, vol.493
, Issue.7430
, pp. 45-50
-
-
Schloissnig, S.1
Arumugam, M.2
Sunagawa, S.3
-
100
-
-
84872459720
-
Identifying personal genomes by surname inference
-
Gymrek M, McGuire AL, Golan D, Halperin E, Erlich Y. Identifying personal genomes by surname inference. Science 339, 321-324 (2012
-
(2012)
Science
, vol.339
, pp. 321-324
-
-
Gymrek, M.1
McGuire, A.L.2
Golan, D.3
Halperin, E.4
Erlich, Y.5
-
101
-
-
0035753329
-
Re-identification of DNA through an automated linkage process
-
Malin B, Sweeney L. Re-identification of DNA through an automated linkage process. Proc. AMIA Symp. 423-427 (2001
-
(2001)
Proc. AMIA Symp
, pp. 423-427
-
-
Malin, B.1
Sweeney, L.2
-
102
-
-
0036811143
-
Achieving k-Anonymity: Privacy protection using generalization and suppression
-
Sweeney L. Achieving k-Anonymity: Privacy protection using generalization and suppression. Int. J. Uncertain. Fuzz. 10, 571-588 (2002
-
(2002)
Int. J. Uncertain. Fuzz
, vol.10
, pp. 571-588
-
-
Sweeney, L.1
-
104
-
-
56049097903
-
Identifiability of DNA data: The need for consistent federal policy
-
McGuire AL. Identifiability of DNA data: The need for consistent federal policy. Am. J. Bioethics 8(10), 75-76 (2008
-
(2008)
Am. J. Bioethics
, vol.8
, Issue.10
, pp. 75-76
-
-
McGuire, A.L.1
-
105
-
-
84872469268
-
The complexities of genomic identifiability
-
Rodriguez LL, Brooks LD, Greenberg JH, Green ED. The complexities of genomic identifiability. Science 339, 275-276 (2013
-
(2013)
Science
, vol.339
, pp. 275-276
-
-
Rodriguez, L.L.1
Brooks, L.D.2
Greenberg, J.H.3
Green, E.D.4
-
107
-
-
67349132836
-
Data sharing in genomics-re-shaping scientific practice
-
Kaye J, Heeney C, Hawkins N, De Vries J, Boddington P. Data sharing in genomics-re-shaping scientific practice. Nat. Rev. Genet. 10(5), 331-335 (2009
-
(2009)
Nat. Rev. Genet
, vol.10
, Issue.5
, pp. 331-335
-
-
Kaye, J.1
Heeney, C.2
Hawkins, N.3
De Vries, J.4
Boddington, P.5
-
108
-
-
42349088372
-
From genetic privacy to open consent
-
Lunshof J, Chadwick R, Vorhaus D, Church G. From genetic privacy to open consent. Nat. Rev. Genet. 9, 406-411 (2008
-
(2008)
Nat. Rev. Genet
, vol.9
, pp. 406-411
-
-
Lunshof, J.1
Chadwick, R.2
Vorhaus, D.3
Church, G.4
-
109
-
-
84875939245
-
Implementing genomic medicine in the clinic: The future is here
-
Manolio T, Chisholm R, Ozenberger B et al. Implementing genomic medicine in the clinic: The future is here. Genet. Med. 258-267 (2013
-
(2013)
Genet. Med
, pp. 258-267
-
-
Manolio, T.1
Chisholm, R.2
Ozenberger, B.3
-
110
-
-
84875943185
-
The arrival of genomic medicine to the clinic is only the beginning of the journey
-
Evans J, Khoury M. The arrival of genomic medicine to the clinic is only the beginning of the journey. Genet. Med. 268-269 (2013
-
(2013)
Genet. Med
, pp. 268-269
-
-
Evans, J.1
Khoury, M.2
|