-
1
-
-
78049434721
-
The effects of gestational age and birth weight on false-positive newborn-screening rates
-
Slaughter JL, Meinzen-Derr J, Rose SR, et al. The effects of gestational age and birth weight on false-positive newborn-screening rates. Pediatrics 2010;126:910-916.
-
(2011)
Pediatrics
, vol.126
, pp. 910-916
-
-
Slaughter, J.L.1
Meinzen-Derr, J.2
Rose, S.R.3
-
2
-
-
80053513583
-
False-positive newborn screening result and future health care use in a state Medicaid cohort
-
Tarini BA, Clark SJ, Pilli S, et al. False-positive newborn screening result and future health care use in a state Medicaid cohort. Pediatrics 2011;128:715-722.
-
(2011)
Pediatrics
, vol.128
, pp. 715-722
-
-
Tarini, B.A.1
Clark, S.J.2
Pilli, S.3
-
3
-
-
84872216693
-
-
American College of Medical Genetics. American College of Medical Genetics: Bethesda, M.D.
-
American College of Medical Genetics. ACMG ACT Sheets and Confirmatory Algorithms. American College of Medical Genetics: Bethesda, MD, 2001.
-
(2001)
ACMG ACT Sheets and Confirmatory Algorithms
-
-
-
4
-
-
84928898166
-
Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted nextgeneration DNA sequencing
-
Bhattacharjee A, Sokolsky T, Wyman SK, et al. Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted nextgeneration DNA sequencing. Genet Med 2015;17:337-347.
-
(2015)
Genet Med
, vol.17
, pp. 337-347
-
-
Bhattacharjee, A.1
Sokolsky, T.2
Wyman, S.K.3
-
7
-
-
84924626624
-
Can we afford to sequence every newborn babys genome?
-
Beckmann JS. Can we afford to sequence every newborn babys genome? Hum Mutat 2015;36:283-286.
-
(2015)
Hum Mutat
, vol.36
, pp. 283-286
-
-
Beckmann, J.S.1
-
8
-
-
84867214350
-
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
-
Saunders CJ, Miller NA, Soden SE, et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med 2012;4:154ra135.
-
(2012)
Sci Transl Med
, vol.4
, pp. 154ra135
-
-
Saunders, C.J.1
Miller, N.A.2
Soden, S.E.3
-
9
-
-
84924290563
-
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism
-
Stranneheim H, Engvall M, Naess K, et al. Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism. BMC Genomics 2014;15:1090.
-
(2014)
BMC Genomics
, vol.15
, pp. 1090
-
-
Stranneheim, H.1
Engvall, M.2
Naess, K.3
-
10
-
-
84899618905
-
Germline variation in cancersusceptibility genes in a healthy, ancestrally diverse cohort: Implications for individual genome sequencing
-
Bodian DL, McCutcheon JN, Kothiyal P, et al. Germline variation in cancersusceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. PLoS ONE 2014;9:e94554.
-
(2014)
PLoS ONE
, vol.9
, pp. e94554
-
-
Bodian, D.L.1
McCutcheon, J.N.2
Kothiyal, P.3
-
11
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
International Human Genome Sequencing Consortium
-
Lander ES, Linton LM, Birren B, et al.; International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 2001;409:860-921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
-
12
-
-
84881018840
-
Isaac: Ultra-fast whole-genome secondary analysis on Illumina sequencing platforms
-
Raczy C, Petrovski R, Saunders CT, et al. Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms. Bioinformatics 2013;29:2041-2043.
-
(2013)
Bioinformatics
, vol.29
, pp. 2041-2043
-
-
Raczy, C.1
Petrovski, R.2
Saunders, C.T.3
-
13
-
-
84936775632
-
Unified representation of genetic variants
-
Tan A, Abecasis GR, Kang HM. Unified representation of genetic variants. Bioinformatics 2015;31:2202-2204.
-
(2015)
Bioinformatics
, vol.31
, pp. 2202-2204
-
-
Tan, A.1
Abecasis, G.R.2
Kang, H.M.3
-
14
-
-
77956295988
-
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna A, Hanna M, Banks E, et al. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010;20:1297-1303.
-
(2011)
Genome Res
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
-
16
-
-
84959273307
-
-
National Human Genome Research Institute Accessed 14 February 2015
-
National Human Genome Research Institute. Clinical Genomic Database. http://research.nhgri.nih.gov/CGD/. Accessed 14 February 2015.
-
Clinical Genomic Database
-
-
-
17
-
-
84880534233
-
-
McKusick-Nathans Institute of Genetic Medicine Johns Hopkins University Baltimore, MD Accessed 14 February 2015
-
Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University: Baltimore, MD. http://omim.org/. Accessed 14 February 2015.
-
Online Mendelian Inheritance in Man, OMIM®
-
-
-
18
-
-
84859367106
-
-
National Institutes of Health Accessed 14 February 2015
-
National Institutes of Health. Genetics Home Reference. http://ghr.nlm.nih.gov/. Accessed 14 February 2015.
-
Genetics Home Reference
-
-
-
19
-
-
84872664522
-
-
Virginia Department of Health Accessed 15 November 2014
-
Virginia Department of Health. Newborn Screening. http://www.vdh.virginia. gov/ofhs/childandfamily/childhealth/gns/vnsp/. Accessed 15 November, 2014.
-
Newborn Screening
-
-
-
20
-
-
84891771466
-
The UCSC genome browser database 2014 update
-
Database issue
-
Karolchik D, Barber GP, Casper J, et al. The UCSC Genome Browser database: 2014 update. Nucleic Acids Res 2014;42(Database issue):D764-D770.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. D764-D770
-
-
Karolchik, D.1
Barber, G.P.2
Casper, J.3
-
21
-
-
84959278895
-
-
National Center for Biotechnology Information Accessed 26 February 2015
-
National Center for Biotechnology Information. Gene.http://www.ncbi.nlm.nih. gov/gene. Accessed 26 February, 2015.
-
Gene
-
-
-
22
-
-
84891809093
-
ClinVar: Public archive of relationships among sequence variation and human phenotype
-
Database issue
-
Landrum MJ, Lee JM, Riley GR, et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res 2014;42(Database issue):D980-D985.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. D980-D985
-
-
Landrum, M.J.1
Lee, J.M.2
Riley, G.R.3
-
23
-
-
78649990385
-
G6PD-MutDB: A mutation and phenotype database of glucose-6-phosphate (G6PD) deficiency
-
Zhao X, Li Z, Zhang X. G6PD-MutDB: A mutation and phenotype database of glucose-6-phosphate (G6PD) deficiency. J Bioinform Comput Biol 2010;8(suppl 1):101-109.
-
(2011)
J Bioinform Comput Biol
, vol.8
, pp. 101-109
-
-
Zhao, X.1
Li, Z.2
Zhang, X.3
-
24
-
-
68549104404
-
The sequence alignment/map format and samtools
-
1000 Genome Project Data Processing Subgroup
-
Li H, Handsaker B, Wysoker A, et al.; 1000 Genome Project Data Processing Subgroup. The Sequence Alignment/Map format and SAMtools. Bioinformatics 2009;25:2078-2079.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
-
25
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variants from high-Throughput sequencing data
-
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-Throughput sequencing data. Nucleic Acids Res 2010;38:e164.
-
(2011)
Nucleic Acids Res
, vol.38
, pp. e164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
26
-
-
84891767394
-
RefSeq: An update on mammalian reference sequences
-
Database issue
-
Pruitt KD, Brown GR, Hiatt SM, et al. RefSeq: An update on mammalian reference sequences. Nucleic Acids Res 2014;42(Database issue):D756-D763.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. D756-D763
-
-
Pruitt, K.D.1
Brown, G.R.2
Hiatt, S.M.3
-
27
-
-
84926430386
-
Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
-
Dong C, Wei P, Jian X, et al. Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. Hum Mol Genet 2015;24:2125-2137.
-
(2015)
Hum Mol Genet
, vol.24
, pp. 2125-2137
-
-
Dong, C.1
Wei, P.2
Jian, X.3
-
28
-
-
84920508956
-
Clinical exome performance for reporting secondary genetic findings
-
Park JY, Clark P, Londin E, Sponziello M, Kricka LJ, Fortina P. Clinical exome performance for reporting secondary genetic findings. Clin Chem 2015;61: 213-220.
-
(2015)
Clin Chem
, vol.61
, pp. 213-220
-
-
Park, J.Y.1
Clark, P.2
Londin, E.3
Sponziello, M.4
Kricka, L.J.5
Fortina, P.6
-
29
-
-
84887454185
-
Standard enrichment methods for targeted next-generation sequencing in high-repeat genomic regions
-
Mueller PW, Lyons J, Kerr G, Haase CP, Isett RB. Standard enrichment methods for targeted next-generation sequencing in high-repeat genomic regions. Genet Med 2013;15:910-911.
-
(2013)
Genet Med
, vol.15
, pp. 910-911
-
-
Mueller, P.W.1
Lyons, J.2
Kerr, G.3
Haase, C.P.4
Isett, R.B.5
-
30
-
-
84959265591
-
-
University of Utah Department of Pathology Accessed 31 March 2015
-
University of Utah Department of Pathology. Biotinidase Deficiency and BTD. http://arup.utah.edu/database/BTD/BTD-welcome.php. Accessed 31 March 2015.
-
Biotinidase Deficiency and BTD
-
-
-
31
-
-
10744226098
-
A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases
-
Lee JH, Choi JH, Namkung W, et al. A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. Hum Mol Genet 2003;12:2321-2332.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2321-2332
-
-
Lee, J.H.1
Choi, J.H.2
Namkung, W.3
-
32
-
-
84901473756
-
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly
-
Bear KA, Solomon BD, Antonini S, et al. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. J Med Genet 2014;51:413-418.
-
(2014)
J Med Genet
, vol.51
, pp. 413-418
-
-
Bear, K.A.1
Solomon, B.D.2
Antonini, S.3
-
33
-
-
84918771753
-
Molecular findings among patients referred for clinical whole-exome sequencing
-
Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 2014;312:1870-1879.
-
(2014)
JAMA
, vol.312
, pp. 1870-1879
-
-
Yang, Y.1
Muzny, D.M.2
Xia, F.3
-
34
-
-
80054958114
-
Adopting orphans: Comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing
-
Kingsmore SF, Dinwiddie DL, Miller NA, Soden SE, Saunders CJ. Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing. Expert Rev Mol Diagn 2011;11:855-868.
-
(2011)
Expert Rev Mol Diagn
, vol.11
, pp. 855-868
-
-
Kingsmore, S.F.1
Dinwiddie, D.L.2
Miller, N.A.3
Soden, S.E.4
Saunders, C.J.5
-
35
-
-
84884416457
-
Rare-disease genetics in the era of next-generation sequencing: Discovery to translation
-
Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 2013;14:681-691.
-
(2013)
Nat Rev Genet
, vol.14
, pp. 681-691
-
-
Boycott, K.M.1
Vanstone, M.R.2
Bulman, D.E.3
MacKenzie, A.E.4
-
36
-
-
84885649003
-
Biomedicine. NIH seeks better database for genetic diagnosis
-
Marshall E. Biomedicine. NIH seeks better database for genetic diagnosis. Science 2013;342:27.
-
(2013)
Science
, vol.342
, pp. 27
-
-
Marshall, E.1
-
37
-
-
84905576523
-
Integrating mapping-Assembly-And haplotype-based approaches for calling variants in clinical sequencing applications
-
WGS500 Consortium
-
Rimmer A, Phan H, Mathieson I, et al.; WGS500 Consortium. Integrating mapping-, assembly-And haplotype-based approaches for calling variants in clinical sequencing applications. Nat Genet 2014;46:912-918.
-
(2014)
Nat Genet
, vol.46
, pp. 912-918
-
-
Rimmer, A.1
Phan, H.2
Mathieson, I.3
-
38
-
-
84928412325
-
Newborn screening: Evolving challenges in an era of rapid discovery
-
Bailey DB Jr, Gehtland L. Newborn screening: evolving challenges in an era of rapid discovery. JAMA 2015;313:1511-1512.
-
(2015)
JAMA
, vol.313
, pp. 1511-1512
-
-
Bailey, D.B.1
Gehtland, L.2
|