-
1
-
-
43849102865
-
DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC)
-
Yu, B., Sawyer, N. A., Chiu, C., Oefner, P. J. & Underhill, P. A. DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC). Curr. Protoc. Hum. Genet. 48, 7.10.1-7.10.14 (2006).
-
(2006)
Curr. Protoc. Hum. Genet.
, vol.48
, pp. 7101-71014
-
-
Yu, B.1
Sawyer, N.A.2
Chiu, C.3
Oefner, P.J.4
Underhill, P.A.5
-
2
-
-
78049390272
-
Evaluation of next generation sequencing of 19 dilated cardiomyopathy genes for clinical applications
-
Gowrisankar, S. et al. Evaluation of next generation sequencing of 19 dilated cardiomyopathy genes for clinical applications. J. Mol. Diagn. 12, 818-827 (2010).
-
(2010)
J. Mol. Diagn.
, vol.12
, pp. 818-827
-
-
Gowrisankar, S.1
-
3
-
-
81055123023
-
Targeted sequencing using Affymetrix CustomSeq arrays
-
Teekakirikul, P., Cox, S. W., Funke, B. & Rehm, H. L. Targeted sequencing using Affymetrix CustomSeq arrays. Curr. Protoc. Hum. Genet. 69, 7.18.1-7.18.17 (2011).
-
(2011)
Curr. Protoc. Hum. Genet.
, vol.69
, pp. 7181-71817
-
-
Teekakirikul, P.1
Cox, S.W.2
Funke, B.3
Rehm, H.L.4
-
4
-
-
84857868297
-
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: An international collaborative study
-
Palomaki, G. E. et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet. Med. 14, 296-305 (2012).
-
(2012)
Genet. Med.
, vol.14
, pp. 296-305
-
-
Palomaki, G.E.1
-
5
-
-
84864099628
-
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
-
O'Sullivan, J. et al. A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. J. Med. Genet. 49, 322-326 (2012).
-
(2012)
J. Med. Genet.
, vol.49
, pp. 322-326
-
-
O'sullivan, J.1
-
6
-
-
84874524757
-
Inherited cardiomyopathies: Molecular genetics and clinical genetic testing in the postgenomic era
-
27 Dec (doi:10.1016/j.jmoldx.2012.09.002)
-
Teekakirikul P., Kelly, M. A., Rehm, H. L., Lakdawala, N. K. & Funke, B. H. Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. J. Mol. Diagn. 27 Dec 2012 doi:10.1016/j.jmoldx. 2012.09.002.
-
(2012)
J. Mol. Diagn.
-
-
Teekakirikul, P.1
Kelly, M.A.2
Rehm, H.L.3
Lakdawala, N.K.4
Funke, B.H.5
-
7
-
-
84872239524
-
Comprehensive mutation analysis for congenital muscular dystrophy: A clinical PCRbased enrichment and next-generation sequencing panel
-
Valencia, C. A. et al. Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCRbased enrichment and next-generation sequencing panel. PLoS ONE. 8, e53083 (2013).
-
(2013)
PLoS ONE.
, vol.8
-
-
Valencia, C.A.1
-
8
-
-
67649122197
-
The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease
-
Morel, C. F. & Clarke, J. T. The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease. Expert Opin. Biol. Ther. 9, 631-639 (2009).
-
(2009)
Expert Opin. Biol. Ther.
, vol.9
, pp. 631-639
-
-
Morel, C.F.1
Clarke, J.T.2
-
9
-
-
84866151406
-
Enzyme replacement therapy improves cardiac features and severity of Fabry disease
-
Motwani, M., Banypersad, S., Woolfson, P. & Waldek, S. Enzyme replacement therapy improves cardiac features and severity of Fabry disease. Mol. Genet. Metab. 107, 197-202 (2012).
-
(2012)
Mol. Genet. Metab.
, vol.107
, pp. 197-202
-
-
Motwani, M.1
Banypersad, S.2
Woolfson, P.3
Waldek, S.4
-
10
-
-
54049142123
-
Cytogenetic technology-genotype and phenotype
-
Ledbetter, D. H. Cytogenetic technology-genotype and phenotype. N. Engl. J. Med. 359, 1728-1730 (2008).
-
(2008)
N. Engl. J. Med.
, vol.359
, pp. 1728-1730
-
-
Ledbetter, D.H.1
-
11
-
-
67249109112
-
Response to Saul and Moeschler "How best to use CGH arrays in the clinical setting"
-
Ledbetter, D. H. Response to Saul and Moeschler "How best to use CGH arrays in the clinical setting". Genet. Med. 11, 371 (2009).
-
(2009)
Genet. Med.
, vol.11
, pp. 371
-
-
Ledbetter, D.H.1
-
12
-
-
84871704471
-
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing
-
Schrauwen, I. et al. A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing. Am. J. Med. Genet. A 61, 145-152 (2013).
-
(2013)
Am. J. Med. Genet. A
, vol.61
, pp. 145-152
-
-
Schrauwen, I.1
-
13
-
-
80054746492
-
Exome sequencing as a tool for Mendelian disease gene discovery
-
Bamshad, M. J. et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nature Rev. Genet. 27, 745-755 (2011).
-
(2011)
Nature Rev. Genet.
, vol.27
, pp. 745-755
-
-
Bamshad, M.J.1
-
14
-
-
84856211646
-
Genome-wide SNP genotyping identifies the stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment
-
Francey, L. J. et al. Genome-wide SNP genotyping identifies the stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. Am. J. Med. Genet. A 158, 298-308 (2012).
-
(2012)
Am. J. Med. Genet. A
, vol.158
, pp. 298-308
-
-
Francey, L.J.1
-
15
-
-
84857691284
-
Fine-tiling array CGH to improve diagnostics for and thalassemia rearrangements
-
Phylipsen, M. et al. Fine-tiling array CGH to improve diagnostics for and thalassemia rearrangements. Hum. Mutat. 33, 272-280 (2012).
-
(2012)
Hum. Mutat.
, vol.33
, pp. 272-280
-
-
Phylipsen, M.1
-
16
-
-
84864649027
-
Points to consider in the clinical application of genomic sequencing
-
ACMG Board of Directors
-
ACMG Board of Directors. Points to consider in the clinical application of genomic sequencing. Genet. Med. 14, 759-761 (2012).
-
(2012)
Genet. Med.
, vol.14
, pp. 759-761
-
-
-
17
-
-
84863986933
-
Secondary variants in individuals undergoing exome sequencing: Screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes
-
Johnston, J. J. et al. 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).
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 97-108
-
-
Johnston, J.J.1
-
18
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
The 1000 Genomes Project Consortium.
-
The 1000 Genomes Project Consortium. An integrated map of genetic variation from 1,092 human genomes. Nature 491, 56-65 (2012).
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
-
19
-
-
84872143942
-
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
-
Fu, W. et al. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature 493, 216-220 (2013).
-
(2013)
Nature
, vol.493
, pp. 216-220
-
-
Fu, W.1
-
22
-
-
70350474767
-
Clinical diagnostics in human genetics with semantic similarity searches in ontologies
-
Köhler, S. et al. Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am. J. Hum. Genet. 85, 457-464 (2009).
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 457-464
-
-
Köhler, S.1
-
23
-
-
36248941449
-
How doctors think, and how software can help avoid cognitive errors in diagnosis
-
Segal, M. How doctors think, and how software can help avoid cognitive errors in diagnosis. Acta Paediatr. 96, 1720-1722 (2007).
-
(2007)
Acta Paediatr.
, vol.96
, pp. 1720-1722
-
-
Segal, M.1
-
24
-
-
84859577332
-
Exploring concordance and discordance for return of incidental findings from clinical sequencing
-
Green, R. C. 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.C.1
-
25
-
-
59849108152
-
The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: Methods of the EGAPP Working Group
-
Teutsch, S. M. et al. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: methods of the EGAPP Working Group. Genet. Med. 11, 3-14 (2009).
-
(2009)
Genet. Med.
, vol.11
, pp. 3-14
-
-
Teutsch, S.M.1
-
26
-
-
59849129653
-
EGAPP supplementary evidence review: Dna testing strategies aimed at reducing morbidity and mortality from lynch syndrome
-
Palomaki, G. E., McClain, M. R., Melillo, S., Hampel, H. L. & Thibodeau, S. N. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet. Med. 11, 42-65 (2009).
-
(2009)
Genet. Med.
, vol.11
, pp. 42-65
-
-
Palomaki, G.E.1
McClain, M.R.2
Melillo, S.3
Hampel, H.L.4
Thibodeau, S.N.5
-
27
-
-
84872062684
-
Improving efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: An EGAPP methods update
-
Veenstra, D. L. et al. Improving efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update. Genet. Med. 15, 14-34 (2013).
-
(2013)
Genet. Med.
, vol.15
, pp. 14-34
-
-
Veenstra, D.L.1
-
28
-
-
84868331794
-
Share alike [editorial]
-
Share alike [editorial]. Nature 490, 143-144 (2012).
-
(2012)
Nature
, vol.490
, pp. 143-144
-
-
-
29
-
-
84868614968
-
One-stop shop for disease genes: NIH database integrates data from clinical genetic testing labs and literature
-
Baker M. One-stop shop for disease genes: NIH database integrates data from clinical genetic testing labs and literature. Nature 491, 171 (2012).
-
(2012)
Nature
, vol.491
, pp. 171
-
-
Baker, M.1
-
30
-
-
27744460981
-
A survey of the causes of sudden cardiac death in the under 35?year-age group
-
erratum 98, 282 (2005)
-
Quigley, F., Greene, M., O'Connor, D. & Kelly, F. A survey of the causes of sudden cardiac death in the under 35?year-age group. Ir. Med. J. 98, 232-235 (2005); erratum 98, 282 (2005).
-
(2005)
Med. J.
, vol.98
, pp. 232-235
-
-
Quigley, F.1
Greene, M.2
O'connor, D.3
Kelly, F.4
-
31
-
-
37449005523
-
Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy
-
Monserrat L et al. Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 50, 2399-2403 (2007).
-
(2007)
J. Am. Coll. Cardiol.
, vol.50
, pp. 2399-2403
-
-
Monserrat, L.1
-
32
-
-
84883811102
-
Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy
-
15 Jul (doi:10.1016/j.ijcard.2012.06.069)
-
Terryn. W. et al. Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy. Int. J. Cardiol. 15 Jul 2012 doi:10.1016/j.ijcard.2012.06.069.
-
(2012)
Int. J. Cardiol.
-
-
Terryn, W.1
|