-
1
-
-
84974822308
-
Transforming the care of atrial fibrillation with mobile health
-
Turakhia, M. P. & Kaiser, D. W. Transforming the care of atrial fibrillation with mobile health. J. Interv. Card. Electrophysiol. 47, 45-50 (2016).
-
(2016)
J. Interv. Card. Electrophysiol.
, vol.47
, pp. 45-50
-
-
Turakhia, M.P.1
Kaiser, D.W.2
-
2
-
-
84958818159
-
Monitoring of vital signs with flexible and wearable medical devices
-
Khan, Y., Ostfeld, A. E., Lochner, C. M., Pierre, A. & Arias, A. C. Monitoring of vital signs with flexible and wearable medical devices. Adv. Mater. 28, 4373-4395 (2016).
-
(2016)
Adv. Mater.
, vol.28
, pp. 4373-4395
-
-
Khan, Y.1
Ostfeld, A.E.2
Lochner, C.M.3
Pierre, A.4
Arias, A.C.5
-
3
-
-
84963819322
-
Consumer sleep tracking devices: A review of mechanisms, validity and utility
-
Kolla, B. P., Mansukhani, S. & Mansukhani, M. P. Consumer sleep tracking devices: a review of mechanisms, validity and utility. Expert Rev. Med. Devices 13, 497-506 (2016).
-
(2016)
Expert Rev. Med. Devices
, vol.13
, pp. 497-506
-
-
Kolla, B.P.1
Mansukhani, S.2
Mansukhani, M.P.3
-
4
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander, E. S. et al. Initial sequencing and analysis of the human genome. Nature 409, 860-921 (2001).
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
-
5
-
-
0035895505
-
The sequence of the human genome
-
Venter, J. C. et al. The sequence of the human genome. Science 291, 1304-1351 (2001).
-
(2001)
Science
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
-
6
-
-
84943171338
-
A global reference for human genetic variation
-
1000 Genomes Project Consortium et al. A global reference for human genetic variation. Nature 526, 68-74 (2015).
-
(2015)
Nature
, vol.526
, pp. 68-74
-
-
-
7
-
-
84944345463
-
Building the foundation for genomics in precision medicine
-
Aronson, S. J. & Rehm, H. L. Building the foundation for genomics in precision medicine. Nature 526, 336-342 (2015).
-
(2015)
Nature
, vol.526
, pp. 336-342
-
-
Aronson, S.J.1
Rehm, H.L.2
-
8
-
-
84923762812
-
A new initiative on precision medicine
-
Collins, F. S. & Varmus, H. A new initiative on precision medicine. N. Engl. J. Med. 372, 793-795 (2015).
-
(2015)
N. Engl. J. Med.
, vol.372
, pp. 793-795
-
-
Collins, F.S.1
Varmus, H.2
-
9
-
-
2542435850
-
DNA-based carrier screening in the Ashkenazi Jewish population
-
Zhang, B., Dearing, L. & Amos, J. DNA-based carrier screening in the Ashkenazi Jewish population. Expert Rev. Mol. Diagn. 4, 377-392 (2004).
-
(2004)
Expert Rev. Mol. Diagn.
, vol.4
, pp. 377-392
-
-
Zhang, B.1
Dearing, L.2
Amos, J.3
-
10
-
-
79953212970
-
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis
-
American College of Obstetricians and Gynecologists Committee on Genetics. ACOG Committee Opinion No. 486: update on carrier screening for cystic fibrosis. Obstet. Gynecol. 11 7, 1028-1031 (2011).
-
(2011)
Obstet. Gynecol.
, vol.117
, pp. 1028-1031
-
-
-
11
-
-
0029006732
-
MHC-dependent mate preferences in humans
-
Wedekind, C., Seebeck, T., Bettens, F. & Paepke, A. J. MHC-dependent mate preferences in humans. Proc. Biol. Sci. 260, 245-249 (1995).
-
(1995)
Proc. Biol. Sci.
, vol.260
, pp. 245-249
-
-
Wedekind, C.1
Seebeck, T.2
Bettens, F.3
Paepke, A.J.4
-
12
-
-
36949087390
-
Antenatal sex determination
-
Fuchs, F. & Riis, P. Antenatal sex determination. Nature 177, 330 (1956).
-
(1956)
Nature
, vol.177
, pp. 330
-
-
Fuchs, F.1
Riis, P.2
-
13
-
-
84919935832
-
Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories
-
Thung, D. T., Beulen, L., Hehir-Kwa, J. & Faas, B. H. Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories. Expert Rev. Mol. Diagn. 15, 111-124 (2015).
-
(2015)
Expert Rev. Mol. Diagn.
, vol.15
, pp. 111-124
-
-
Thung, D.T.1
Beulen, L.2
Hehir-Kwa, J.3
Faas, B.H.4
-
14
-
-
84894558657
-
Noninvasive prenatal testing
-
Lo, J. O., Cori, D. F., Norton, M. E. & Caughey, A. B. Noninvasive prenatal testing. Obstet. Gynecol. Surv. 69, 89-99 (2014).
-
(2014)
Obstet. Gynecol. Surv.
, vol.69
, pp. 89-99
-
-
Lo, J.O.1
Cori, D.F.2
Norton, M.E.3
Caughey, A.B.4
-
15
-
-
84862118837
-
Noninvasive whole-genome sequencing of a human fetus
-
Kitzman, J. O. et al. Noninvasive whole-genome sequencing of a human fetus. Sci. Transl. Med. 4, 137ra76 (2012).
-
(2012)
Sci. Transl. Med.
, vol.4
, pp. 137ra76
-
-
Kitzman, J.O.1
-
16
-
-
85037338406
-
Phenylalanine hydroxylase deficiency
-
updated 20 Oct 2016
-
Regier, D. S. & Greene, C. I.Phenylalanine hydroxylase deficiency. GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1504/(updated 20 Oct 2016).
-
GeneReviews
-
-
Regier, D.S.1
Greene, C.I.2
-
17
-
-
0034434840
-
Population-based genetic screening for reproductive counseling: The Tay-Sachs disease model
-
Kaback, M. M. Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model. Eur. J. Pediatr. 159 (Suppl. 3), S192-S195 (2000).
-
(2000)
Eur. J. Pediatr.
, vol.159
, pp. S192-S195
-
-
Kaback, M.M.1
-
18
-
-
84894481170
-
Recent declines in infant mortality in the United States, 2005-2011
-
MacDorman, M. F., Hoyert, D. L. & Mathews, T. J. Recent declines in infant mortality in the United States, 2005-2011. NCHS Data Brief 20, 1-8 (2013).
-
(2013)
NCHS Data Brief
, vol.20
, pp. 1-8
-
-
MacDorman, M.F.1
Hoyert, D.L.2
Mathews, T.J.3
-
19
-
-
33744784588
-
Newborn screening: Toward a uniform screening panel and system-executive summary
-
American College of Medical Genetics Newborn Screening Expert Group Newborn Screening: Toward A Uniform Screening Panel and System-executive Summary. Pediatrics 11 7, S296-S307 (2006).
-
(2006)
Pediatrics
, vol.117
, pp. S296-S307
-
-
-
20
-
-
44849139821
-
Expanding newborn screening: Process, policy, and priorities
-
Moyer, V. A., Calonge, N., Teutsch, S. M., Botkin, J. R. & United States Preventive Services Task Force. Expanding newborn screening: process, policy, and priorities. Hastings Cent. Rep. 38, 32-39 (2008).
-
(2008)
Hastings Cent. Rep.
, vol.38
, pp. 32-39
-
-
Moyer, V.A.1
Calonge, N.2
Teutsch, S.M.3
Botkin, J.R.4
-
21
-
-
84992085185
-
Hypertrophic cardiomyopathy overview
-
updated 16 Jan 2014
-
Cirino, A. L. & Ho, C. Y. Hypertrophic cardiomyopathy overview. GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1768/(updated 16 Jan 2014).
-
GeneReviews
-
-
Cirino, A.L.1
Ho, C.Y.2
-
23
-
-
84959270615
-
Newborn testing and screening by whole-genome sequencing
-
Kingsmore, S. F. Newborn testing and screening by whole-genome sequencing. Genet. Med. 18, 214-216 (2016).
-
(2016)
Genet. Med.
, vol.18
, pp. 214-216
-
-
Kingsmore, S.F.1
-
24
-
-
84930336638
-
Parents are interested in newborn genomic testing during the early postpartum period
-
Waisbren, S. E. et al. Parents are interested in newborn genomic testing during the early postpartum period. Genet. Med. 17, 501-504 (2015).
-
(2015)
Genet. Med.
, vol.17
, pp. 501-504
-
-
Waisbren, S.E.1
-
25
-
-
85015340925
-
A curated gene list for reporting results of newborn genomic sequencing
-
Ceyhan-Birsoy, O. et al. A curated gene list for reporting results of newborn genomic sequencing. Genet. Med. http://dx.doi.org/10.1038/gim.2016.193 (2017).
-
(2017)
Genet. Med
-
-
Ceyhan-Birsoy, O.1
-
26
-
-
85014060383
-
Newborn sequencing in genomic medicine and public health (NSIGHT)
-
Berg, J. S. et al. Newborn sequencing in genomic medicine and public health (NSIGHT). Pediatrics http://dx.doi.org/10.1542/peds.2016-2252 (2017).
-
(2017)
Pediatrics
-
-
Berg, J.S.1
-
27
-
-
84959324664
-
Outcome of whole exome sequencing for diagnostic odyssey cases of an individualized medicine clinic: The Mayo Clinic Experience
-
Lazaridis, K. N. et al. Outcome of whole exome sequencing for diagnostic odyssey cases of an individualized medicine clinic: the Mayo Clinic Experience. Mayo Clin. Proc. 91, 297-307 (2016).
-
(2016)
Mayo Clin. Proc.
, vol.91
, pp. 297-307
-
-
Lazaridis, K.N.1
-
28
-
-
84958105945
-
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: Time to address gaps in care
-
Sawyer, S. L. et al. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clin. Genet. 89, 275-284 (2016).
-
(2016)
Clin. Genet.
, vol.89
, pp. 275-284
-
-
Sawyer, S.L.1
-
29
-
-
84968853333
-
Diagnostic odyssey in severe neurodevelopmental disorders: Toward clinical whole-exome sequencing as a first-line diagnostic test
-
Thevenon, J. et al. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test. Clin. Genet. 89, 700-707 (2016).
-
(2016)
Clin. Genet.
, vol.89
, pp. 700-707
-
-
Thevenon, J.1
-
30
-
-
85007579671
-
What happens when N = 1 and you want plus 1?
-
Might, M. & Might, C. What happens when N = 1 and you want plus 1? Prenat. Diagn. http://dx.doi.org/10.1002/pd.4975 (2016).
-
(2016)
Prenat. Diagn
-
-
Might, M.1
Might, C.2
-
31
-
-
84901503065
-
Isolated growth hormone deficiency (GHD) in childhood and adolescence: Recent advances
-
Alatzoglou, K. S., Webb, E. A., Le Tissier, P. & Dattani, M. T. Isolated growth hormone deficiency (GHD) in childhood and adolescence: recent advances. Endocr. Rev. 35, 376-432 (2014).
-
(2014)
Endocr. Rev.
, vol.35
, pp. 376-432
-
-
Alatzoglou, K.S.1
Webb, E.A.2
Le Tissier, P.3
Dattani, M.T.4
-
32
-
-
84930507032
-
Next generation sequencing in endocrine practice
-
Forlenza, G. P. et al. Next generation sequencing in endocrine practice. Mol. Genet. Metab. 11 5, 61-71 (2015).
-
(2015)
Mol. Genet. Metab.
, vol.115
, pp. 61-71
-
-
Forlenza, G.P.1
-
33
-
-
33845243362
-
Cancer as an evolutionary and ecological process
-
Merlo, L. M., Pepper, J. W., Reid, B. J. & Maley, C. C. Cancer as an evolutionary and ecological process. Nat. Rev. Cancer 6, 924-935 (2006).
-
(2006)
Nat. Rev. Cancer
, vol.6
, pp. 924-935
-
-
Merlo, L.M.1
Pepper, J.W.2
Reid, B.J.3
Maley, C.C.4
-
34
-
-
2342471392
-
Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib
-
Lynch, T. J. et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N. Engl. J. Med. 350, 2129-2139 (2004).
-
(2004)
N. Engl. J. Med.
, vol.350
, pp. 2129-2139
-
-
Lynch, T.J.1
-
35
-
-
2342624080
-
EGFR mutations in lung cancer: Correlation with clinical response to gefitinib therapy
-
Paez, J. G. et al. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science 304, 1497-1500 (2004).
-
(2004)
Science
, vol.304
, pp. 1497-1500
-
-
Paez, J.G.1
-
36
-
-
79952767398
-
Crizotinib a small-molecule dual inhibitor of the c-Met and ALK receptor tyrosine kinases
-
Rodig, S. J. & Shapiro, G. I. Crizotinib, a small-molecule dual inhibitor of the c-Met and ALK receptor tyrosine kinases. Curr. Opin. Investig. Drugs 11, 1477-1490 (2010).
-
(2010)
Curr. Opin. Investig. Drugs
, vol.11
, pp. 1477-1490
-
-
Rodig, S.J.1
Shapiro, G.I.2
-
37
-
-
26844503270
-
Trastuzumab after adjuvant chemotherapy in HER2-positive breast cancer
-
Piccart-Gebhart, M. J. et al. Trastuzumab after adjuvant chemotherapy in HER2-positive breast cancer. N. Engl. J. Med. 353, 1659-1672 (2005).
-
(2005)
N. Engl. J. Med.
, vol.353
, pp. 1659-1672
-
-
Piccart-Gebhart, M.J.1
-
38
-
-
26844536978
-
Trastuzumab plus adjuvant chemotherapy for operable HER2-positive breast cancer
-
Romond, E. H. et al. Trastuzumab plus adjuvant chemotherapy for operable HER2-positive breast cancer. N. Engl. J. Med. 353, 1673-1684 (2005).
-
(2005)
N. Engl. J. Med.
, vol.353
, pp. 1673-1684
-
-
Romond, E.H.1
-
39
-
-
79959795786
-
Improved survival with vemurafenib in melanoma with BRAF V600E mutation
-
Chapman, P. B. et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N. Engl. J. Med. 364, 2507-2516 (2011).
-
(2011)
N. Engl. J. Med.
, vol.364
, pp. 2507-2516
-
-
Chapman, P.B.1
-
40
-
-
78149249554
-
IDH1 or IDH2 mutations predict longer survival and response to temozolomide in low-grade gliomas
-
Houillier, C. et al. IDH1 or IDH2 mutations predict longer survival and response to temozolomide in low-grade gliomas. Neurology 75, 1560-1566 (2010).
-
(2010)
Neurology
, vol.75
, pp. 1560-1566
-
-
Houillier, C.1
-
41
-
-
84954446949
-
Patients' perceived utility of whole-genome sequencing for their healthcare: Findings from the MedSeq project
-
Lupo, P. J. et al. Patients' perceived utility of whole-genome sequencing for their healthcare: findings from the MedSeq project. Per. Med. 13, 13-20 (2016).
-
(2016)
Per. Med.
, vol.13
, pp. 13-20
-
-
Lupo, P.J.1
-
42
-
-
84898883459
-
The MedSeq Project: A randomized trial of integrating whole genome sequencing into clinical medicine
-
Vassy, J. L. et al. The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine. Trials 15, 85 (2014).
-
(2014)
Trials
, vol.15
, pp. 85
-
-
Vassy, J.L.1
-
43
-
-
84938828492
-
Explaining, not just predicting, drives interest in personal genomics
-
Meisel, S. F. et al. Explaining, not just predicting, drives interest in personal genomics. Genome Med. 7, 74 (2015).
-
(2015)
Genome Med.
, vol.7
, pp. 74
-
-
Meisel, S.F.1
-
44
-
-
84946506206
-
Results of clinical genetic testing of 2, 912 probands with hypertrophic cardiomyopathy: Expanded panels offer limited additional sensitivity
-
Alfares, A. A. et al. Results of clinical genetic testing of 2, 912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet. Med. 17, 880-888 (2015).
-
(2015)
Genet. Med.
, vol.17
, pp. 880-888
-
-
Alfares, A.A.1
-
45
-
-
84992491575
-
Diagnosis of primary ciliary dyskinesia by a targeted next-generation sequencing panel: Molecular and clinical findings in Italian patients
-
Boaretto, F. et al. Diagnosis of primary ciliary dyskinesia by a targeted next-generation sequencing panel: molecular and clinical findings in Italian patients. J. Mol. Diagn. 18, 912-922 (2016).
-
(2016)
J. Mol. Diagn.
, vol.18
, pp. 912-922
-
-
Boaretto, F.1
-
46
-
-
84955188968
-
New mutations associated with rasopathies in a Central European population and genotype-phenotype correlations
-
Cizmarova, M. et al. New mutations associated with rasopathies in a Central European population and genotype-phenotype correlations. Ann. Hum. Genet. 80, 50-62 (2016).
-
(2016)
Ann. Hum. Genet.
, vol.80
, pp. 50-62
-
-
Cizmarova, M.1
-
47
-
-
84918840439
-
Clinical exome sequencing for genetic identification of rare Mendelian disorders
-
Lee, H. et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA 312, 1880-1887 (2014).
-
(2014)
JAMA
, vol.312
, pp. 1880-1887
-
-
Lee, H.1
-
48
-
-
84901449140
-
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing
-
Pugh, T. J. et al. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet. Med. 16, 601-608 (2014).
-
(2014)
Genet. Med.
, vol.16
, pp. 601-608
-
-
Pugh, T.J.1
-
49
-
-
84991276148
-
Clinical next-generation sequencing pipeline outperforms a combined approach using Sanger sequencing and multiplex ligation-dependent probe amplification in targeted gene panel analysis
-
Schenkel, L. C. et al. Clinical next-generation sequencing pipeline outperforms a combined approach using Sanger sequencing and multiplex ligation-dependent probe amplification in targeted gene panel analysis. J. Mol. Diagn. 18, 657-667 (2016).
-
(2016)
J. Mol. Diagn.
, vol.18
, pp. 657-667
-
-
Schenkel, L.C.1
-
50
-
-
84937710511
-
Massively parallel sequencing for genetic diagnosis of hearing loss: The new standard of care
-
Shearer, A. E. & Smith, R. J. Massively parallel sequencing for genetic diagnosis of hearing loss: the new standard of care. Otolaryngol. Head Neck Surg. 153, 175-182 (2015).
-
(2015)
Otolaryngol. Head Neck Surg.
, vol.153
, pp. 175-182
-
-
Shearer, A.E.1
Smith, R.J.2
-
51
-
-
84986922155
-
Genetic testing of 248 Chinese aortopathy patients using a panel assay
-
Yang, H. et al. Genetic testing of 248 Chinese aortopathy patients using a panel assay. Sci. Rep. 6, 33002 (2016).
-
(2016)
Sci. Rep.
, vol.6
, pp. 33002
-
-
Yang, H.1
-
52
-
-
84938965200
-
The genetic basis of Mendelian phenotypes: Discoveries, challenges, and opportunities
-
Chong, J. X. et al. The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities. Am. J. Hum. Genet. 97, 199-215 (2015).
-
(2015)
Am. J. Hum. Genet.
, vol.97
, pp. 199-215
-
-
Chong, J.X.1
-
53
-
-
84908491991
-
Guidance for laboratories performing molecular pathology for cancer patients
-
Cree, I. A. et al. Guidance for laboratories performing molecular pathology for cancer patients. J. Clin. Pathol. 67, 923-931 (2014).
-
(2014)
J. Clin. Pathol.
, vol.67
, pp. 923-931
-
-
Cree, I.A.1
-
54
-
-
84880917028
-
Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: Guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology
-
Lindeman, N. I. et al. Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology. J. Thorac. Oncol. 8, 823-859 (2013).
-
(2013)
J. Thorac. Oncol.
, vol.8
, pp. 823-859
-
-
Lindeman, N.I.1
-
55
-
-
83755225553
-
NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology
-
Febbo, P. G. et al. NCCN Task Force report: evaluating the clinical utility of tumor markers in oncology. J. Natl Compr. Canc. Netw. 9 (Suppl. 5), S1-S32 (2011).
-
(2011)
J. Natl Compr. Canc. Netw.
, vol.9
, pp. S1-S32
-
-
Febbo, P.G.1
-
56
-
-
84861844982
-
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
-
Aradhya, S. et al. Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. Genet. Med. 14, 594-603 (2012).
-
(2012)
Genet. Med.
, vol.14
, pp. 594-603
-
-
Aradhya, S.1
-
57
-
-
84977137967
-
VisCap: Inference and visualization of germ-line copy-number variants from targeted clinical sequencing data
-
Pugh, T. J. et al. VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data. Genet. Med. 18, 712-719 (2016).
-
(2016)
Genet. Med.
, vol.18
, pp. 712-719
-
-
Pugh, T.J.1
-
58
-
-
84891809093
-
ClinVar: Public archive of relationships among sequence variation and human phenotype
-
Landrum, M. J. et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 42, D980-D985 (2014).
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. D980-D985
-
-
Landrum, M.J.1
-
59
-
-
84930526399
-
ClinGen-The Clinical Genome Resource
-
Rehm, H. L. et al. ClinGen-The Clinical Genome Resource. N. Engl. J. Med. 372, 2235-2242 (2015).
-
(2015)
N. Engl. J. Med.
, vol.372
, pp. 2235-2242
-
-
Rehm, H.L.1
-
60
-
-
84928209346
-
Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
-
Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405-424 (2015).
-
(2015)
Genet. Med.
, vol.17
, pp. 405-424
-
-
Richards, S.1
-
61
-
-
84989958164
-
Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research Consortium
-
Amendola, L. M. et al. Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research Consortium. Am. J. Hum. Genet. 99, 247 (2016).
-
(2016)
Am. J. Hum. Genet.
, vol.99
, pp. 247
-
-
Amendola, L.M.1
-
62
-
-
84982253941
-
Analysis of protein-coding genetic variation in 60, 706 humans
-
Lek, M. et al. Analysis of protein-coding genetic variation in 60, 706 humans. Nature 536, 285-291 (2016).
-
(2016)
Nature
, vol.536
, pp. 285-291
-
-
Lek, M.1
-
63
-
-
84923872701
-
Actionable exomic incidental findings in 6503 participants: Challenges of variant classification
-
Amendola, L. M. et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 25, 305-315 (2015).
-
(2015)
Genome Res.
, vol.25
, pp. 305-315
-
-
Amendola, L.M.1
-
64
-
-
85015331267
-
-
National Center for Biotechnology Information. ClinVar submissions. ClinVar
-
National Center for Biotechnology Information. ClinVar submissions. ClinVar https://www.ncbi.nlm.nih.gov/clinvar/submitters (2016).
-
(2016)
-
-
-
65
-
-
84941873668
-
The Matchmaker Exchange: A platform for rare disease gene discovery
-
Philippakis, A. A. et al. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum. Mutat. 36, 915-921 (2015).
-
(2015)
Hum. Mutat.
, vol.36
, pp. 915-921
-
-
Philippakis, A.A.1
-
66
-
-
84923675764
-
Big data and public health: Navigating privacy laws to maximize potential
-
Thorpe, J. H. & Gray, E. A. Big data and public health: navigating privacy laws to maximize potential. Public Health Rep. 130, 171-175 (2015).
-
(2015)
Public Health Rep.
, vol.130
, pp. 171-175
-
-
Thorpe, J.H.1
Gray, E.A.2
-
67
-
-
84975129608
-
A federated ecosystem for sharing genomic, clinical data
-
Global Alliance for Genomics and Health. A federated ecosystem for sharing genomic, clinical data. Science 352, 1278-1280 (2016).
-
(2016)
Science
, vol.352
, pp. 1278-1280
-
-
-
68
-
-
85010796460
-
Governance through privacy, fairness, and respect for individuals
-
Baker, D. B., Kaye, J. & Terry, S. F. Governance through privacy, fairness, and respect for individuals. EGEMS (Wash. DC) 4, 1207 (2016).
-
(2016)
EGEMS (Wash. DC)
, vol.4
, pp. 1207
-
-
Baker, D.B.1
Kaye, J.2
Terry, S.F.3
-
69
-
-
84940650144
-
Framework for responsible sharing of genomic and health-related data
-
Knoppers, B. M. Framework for responsible sharing of genomic and health-related data. HUGO J. 8, 3 (2014).
-
(2014)
HUGO J.
, vol.8
, pp. 3
-
-
Knoppers, B.M.1
-
70
-
-
84937509245
-
Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents
-
Botkin, J. R. et al. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am. J. Hum. Genet. 97, 6-21 (2015).
-
(2015)
Am. J. Hum. Genet.
, vol.97
, pp. 6-21
-
-
Botkin, J.R.1
-
71
-
-
84995576840
-
Whole genome sequencing and newborn screening
-
Botkin, J. R. & Rothwell, E. Whole genome sequencing and newborn screening. Curr. Genet. Med. Rep. 4, 1-6 (2016).
-
(2016)
Curr. Genet. Med. Rep.
, vol.4
, pp. 1-6
-
-
Botkin, J.R.1
Rothwell, E.2
-
72
-
-
84957611730
-
Psychosocial factors influencing parental interest in genomic sequencing of newborns
-
Waisbren, S. E., Weipert, C. M., Walsh, R. C., Petty, C. R. & Green, R. C. Psychosocial factors influencing parental interest in genomic sequencing of newborns. Pediatrics 137 (Suppl. 1), S30-S35 (2016).
-
(2016)
Pediatrics
, vol.137
, pp. S30-S35
-
-
Waisbren, S.E.1
Weipert, C.M.2
Walsh, R.C.3
Petty, C.R.4
Green, R.C.5
-
73
-
-
85015297933
-
Long QT syndrome
-
updated 18 Jun 2015
-
Alders, M. & Christiaans, I. Long QT syndrome. GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1129/(updated 18 Jun 2015).
-
GeneReviews
-
-
Alders, M.1
Christiaans, I.2
-
74
-
-
8544283018
-
Penetrance of familial hypertrophic cardiomyopathy
-
Charron, P. et al. Penetrance of familial hypertrophic cardiomyopathy. Genet. Couns. 8, 107-114 (1997).
-
(1997)
Genet. Couns.
, vol.8
, pp. 107-114
-
-
Charron, P.1
-
75
-
-
84871863427
-
Lynch syndrome
-
updated 22 May 2014
-
Kohlmann, W. & Gruber, S. B. Lynch syndrome. GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1211/(updated 22 May 2014).
-
GeneReviews
-
-
Kohlmann, W.1
Gruber, S.B.2
-
76
-
-
79953718190
-
BRCA1 and BRCA2 hereditary breast and ovarian cancer
-
updated 26 Sep 2013
-
Petrucelli, N., Daly, M. B. & Feldman, G. L. BRCA1 and BRCA2 hereditary breast and ovarian cancer. GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1247/(updated 26 Sep 2013).
-
GeneReviews
-
-
Petrucelli, N.1
Daly, M.B.2
Feldman, G.L.3
-
77
-
-
33746830877
-
Screening for hereditary hemochromatosis: A systematic review for the U.S. Preventive Services Task Force
-
Whitlock, E. P., Garlitz, B. A., Harris, E. L., Beil, T. L. & Smith, P. R. Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force. Ann. Intern. Med. 145, 209-223 (2006).
-
(2006)
Ann. Intern. Med.
, vol.145
, pp. 209-223
-
-
Whitlock, E.P.1
Garlitz, B.A.2
Harris, E.L.3
Beil, T.L.4
Smith, P.R.5
-
78
-
-
17744365741
-
Elastin: Mutational spectrum in supravalvular aortic stenosis
-
Metcalfe, K. et al. Elastin: mutational spectrum in supravalvular aortic stenosis. Eur. J. Hum. Genet. 8, 955-9634 (2000).
-
(2000)
Eur. J. Hum. Genet.
, vol.8
, pp. 955-9634
-
-
Metcalfe, K.1
-
79
-
-
84865207062
-
Late outcomes for surgical repair of supravalvar aortic stenosis
-
Deo, S. V. et al. Late outcomes for surgical repair of supravalvar aortic stenosis. Ann. Thorac. Surg. 94, 854-859 (2012).
-
(2012)
Ann. Thorac. Surg.
, vol.94
, pp. 854-859
-
-
Deo, S.V.1
-
80
-
-
84981187152
-
Gene discovery for Mendelian conditions via social networking: De novo variants in KDM1A cause developmental delay and distinctive facial features
-
Chong, J. X. et al. Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Genet. Med. 18, 788-795 (2016).
-
(2016)
Genet. Med.
, vol.18
, pp. 788-795
-
-
Chong, J.X.1
-
81
-
-
84941878200
-
GenomeConnect: Matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge
-
Kirkpatrick, B. E. et al. GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge. Hum. Mutat. 36, 974-978 (2015).
-
(2015)
Hum. Mutat.
, vol.36
, pp. 974-978
-
-
Kirkpatrick, B.E.1
-
82
-
-
84941879078
-
Participant-driven matchmaking in the genomic era
-
Lambertson, K. F., Damiani, S. A., Might, M., Shelton, R. & Terry, S. F. Participant-driven matchmaking in the genomic era. Hum. Mutat. 36, 965-973 (2015).
-
(2015)
Hum. Mutat.
, vol.36
, pp. 965-973
-
-
Lambertson, K.F.1
Damiani, S.A.2
Might, M.3
Shelton, R.4
Terry, S.F.5
-
83
-
-
84964968272
-
Global trends on fears and concerns of genetic discrimination: A systematic literature review
-
Wauters, A. & Van Hoyweghen, I. Global trends on fears and concerns of genetic discrimination: a systematic literature review. J. Hum. Genet. 61, 275-282 (2016).
-
(2016)
J. Hum. Genet.
, vol.61
, pp. 275-282
-
-
Wauters, A.1
Van Hoyweghen, I.2
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