-
1
-
-
84902578876
-
Diagnostic clinical genome and exome sequencing
-
Biesecker LG, Green RC: Diagnostic clinical genome and exome sequencing. N Engl J Med 370: 2418-2425 (2014).
-
(2014)
N Engl J Med
, vol.370
, pp. 2418-2425
-
-
Biesecker, L.G.1
Green, R.C.2
-
2
-
-
84927912895
-
Diagnosis of an imprintedgene syndrome by a novel bioinformtics analysis of whole-genome sequences from a family trio
-
Bodian DL, Solomon BD, Khromykh A, Thach DC, Iyer RK, et al: Diagnosis of an imprintedgene syndrome by a novel bioinformtics analysis of whole-genome sequences from a family trio. Mol Genet Genomic Med 2: 530-538 (2014).
-
(2014)
Mol Genet Genomic Med
, vol.2
, pp. 530-538
-
-
Bodian, D.L.1
Solomon, B.D.2
Khromykh, A.3
Thach, D.C.4
Iyer, R.K.5
-
3
-
-
84896761004
-
Genetic diagnosis through whole-exome sequencing
-
Eng CM, Yang Y, Plon SE: Genetic diagnosis through whole-exome sequencing. N Engl J Med 370: 1068 (2014).
-
(2014)
N Engl J Med
, vol.370
, pp. 1068
-
-
Eng, C.M.1
Yang, Y.2
Plon, S.E.3
-
4
-
-
84897908258
-
Technology: The $1, 000 genome
-
Hayden EC: Technology: The $1, 000 genome. Nature 507: 294-295 (2014).
-
(2014)
Nature
, vol.507
, pp. 294-295
-
-
Hayden, E.C.1
-
5
-
-
84864360759
-
Next-generation sequencing demands next-generation phenotyping
-
Hennekam RC, Biesecker LG: Next-generation sequencing demands next-generation phenotyping. Hum Mutat 33: 884-886 (2012).
-
(2012)
Hum Mutat
, vol.33
, pp. 884-886
-
-
Hennekam, R.C.1
Biesecker, L.G.2
-
6
-
-
84875932002
-
New approaches to molecular diagnosis
-
Korf BR, Rehm HL: New approaches to molecular diagnosis. JAMA 309: 1511-1521 (2013).
-
(2013)
JAMA
, vol.309
, pp. 1511-1521
-
-
Korf, B.R.1
Rehm, H.L.2
-
7
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, 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
Linton, L.M.2
Birren, B.3
Nusbaum, C.4
Zody, M.C.5
-
8
-
-
84891809093
-
ClinVar: Public archive of relationships among sequence variation and human phenotype
-
Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, 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
Lee, J.M.2
Riley, G.R.3
Jang, W.4
Rubinstein, W.S.5
-
9
-
-
84860147579
-
A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases
-
Li MX, Gui HS, Kwan JS, Bao SY, Sham PC: A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases. Nucleic Acids Res 40:e53 (2012).
-
(2012)
Nucleic Acids Res
, vol.40
, pp. e53
-
-
Li, M.X.1
Gui, H.S.2
Kwan, J.S.3
Bao, S.Y.4
Sham, P.C.5
-
10
-
-
78650775954
-
The $1, 000 genome, the $100, 000 analysis?
-
Mardis ER: The $1, 000 genome, the $100, 000 analysis? Genome Med 2: 84 (2010).
-
(2010)
Genome Med
, vol.2
, pp. 84
-
-
Mardis, E.R.1
-
11
-
-
84881018840
-
Isaac: Ultra-fast whole-genome secondary analysis on Illumina sequencing platforms
-
Raczy C, Petrovski R, Saunders CT, Chorny I, Kruglyak S, et al: Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms. Bioinformatics 29: 2041-2043 (2013).
-
(2013)
Bioinformatics
, vol.29
, pp. 2041-2043
-
-
Raczy, C.1
Petrovski, R.2
Saunders, C.T.3
Chorny, I.4
Kruglyak, S.5
-
12
-
-
77951799158
-
Analysis of genetic inheritance in a family quartet by whole-genome sequencing
-
Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, et al: Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 328: 636-639 (2010).
-
(2010)
Science
, vol.328
, pp. 636-639
-
-
Roach, J.C.1
Glusman, G.2
Smit, A.F.3
Huff, C.D.4
Hubley, R.5
-
13
-
-
84867214350
-
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
-
Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, 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
, pp. 154ra135
-
-
Saunders, C.J.1
Miller, N.A.2
Soden, S.E.3
Dinwiddie, D.L.4
Noll, A.5
-
14
-
-
84915803267
-
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
-
Soden SE, Saunders CJ, Willig LK, Farrow EG, Smith LD, et al: Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med 6: 265ra168 (2014).
-
(2014)
Sci Transl Med
, vol.6
, pp. 265ra168
-
-
Soden, S.E.1
Saunders, C.J.2
Willig, L.K.3
Farrow, E.G.4
Smith, L.D.5
-
15
-
-
84924725169
-
Obstacles and opportunities for the future of genomic medicine
-
Solomon BD: Obstacles and opportunities for the future of genomic medicine. Mol Genet Genomic Med 2: 205-209 (2014).
-
(2014)
Mol Genet Genomic Med
, vol.2
, pp. 205-209
-
-
Solomon, B.D.1
-
16
-
-
84924726230
-
Genomic sequencing and the impact of molecular diagnosis on patient care
-
Solomon BD: Genomic sequencing and the impact of molecular diagnosis on patient care. Mol Syndromol 6: 4-6 (2015).
-
(2015)
Mol Syndromol
, vol.6
, pp. 4-6
-
-
Solomon, B.D.1
-
18
-
-
84927913664
-
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome
-
Solomon BD, Bodian DL, Khromykh A, Mora GG, Lanpher BC, et al: Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. Am J Med Genet A 167: 1111-1116 (2015).
-
(2015)
Am J Med Genet A
, vol.167
, pp. 1111-1116
-
-
Solomon, B.D.1
Bodian, D.L.2
Khromykh, A.3
Mora, G.G.4
Lanpher, B.C.5
-
19
-
-
84908251771
-
Mutations NOTCH1 cause Adams-Oliver syndrome
-
Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, et al: Mutations in NOTCH1 cause Adams-Oliver syndrome. Am J Hum Genet 95: 275-284 (2014).
-
(2014)
Am J Hum Genet
, vol.95
, pp. 275-284
-
-
Stittrich, A.B.1
Lehman, A.2
Bodian, D.L.3
Ashworth, J.4
Zong, Z.5
-
20
-
-
84924290563
-
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism
-
Stranneheim H, Engvall M, Naess K, Lesko N, Larsson P, et al: Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism. BMC Genomics 15: 1090 (2014).
-
(2014)
BMC Genomics
, vol.15
, pp. 1090
-
-
Stranneheim, H.1
Engvall, M.2
Naess, K.3
Lesko, N.4
Larsson, P.5
-
21
-
-
84870568851
-
Clinical diagnosis by whole-genome sequencing of a prenatal sample
-
Talkowski ME, Ordulu Z, Pillalamarri V, Benson CB, Blumenthal I, et al: Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med 367: 2226-2232 (2012).
-
(2012)
N Engl J Med
, vol.367
, pp. 2226-2232
-
-
Talkowski, M.E.1
Ordulu, Z.2
Pillalamarri, V.3
Benson, C.B.4
Blumenthal, I.5
-
22
-
-
84975795680
-
An integrated map of genetic variation from 1, 092 human genomes
-
The 1000 Genomes Project Consortium
-
The 1000 Genomes Project Consortium; Abecasis GR, Auton A, Brooks LD, DePristo MA, et al: An integrated map of genetic variation from 1, 092 human genomes. Nature 491: 56-65 (2012).
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
DePristo, M.A.4
-
23
-
-
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 38:e164 (2010).
-
(2010)
Nucleic Acids Res
, vol.38
, pp. e164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
24
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of Mendelian disorders
-
Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, et al: Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med 369: 1502-1511 (2013).
-
(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
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