-
1
-
-
84898405421
-
The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders
-
Shashi V, McConkie-Rosell A, Rosell B et al. The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genet Med 2014: 16: 176-182.
-
(2014)
Genet Med
, vol.16
, pp. 176-182
-
-
Shashi, V.1
McConkie-Rosell, A.2
Rosell, B.3
-
2
-
-
84864083351
-
Clinical application of exome sequencing in unidentified genetic conditions
-
Need AC, Shashi V, Hitomi Y et al. Clinical application of exome sequencing in unidentified genetic conditions. J Med Genet 2012: 49: 353-361.
-
(2012)
J Med Genet
, vol.49
, pp. 353-361
-
-
Need, A.C.1
Shashi, V.2
Hitomi, Y.3
-
3
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
-
Yang Y, Muzny DM, Reid JG et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 2013: 369: 1502-1511.
-
(2013)
N Engl J Med
, vol.369
, pp. 1502-1511
-
-
Yang, Y.1
Muzny, D.M.2
Reid, J.G.3
-
4
-
-
84918793267
-
The usefulness of whole-exome sequencing in routine clinical practice
-
Iglesias A, Anyane-Yeboa K, Wynn J et al. The usefulness of whole-exome sequencing in routine clinical practice. Genet Med 2014: 16: 922-931.
-
(2014)
Genet Med
, vol.16
, pp. 922-931
-
-
Iglesias, A.1
Anyane-Yeboa, K.2
Wynn, J.3
-
5
-
-
84918840439
-
Clinical exome sequencing for genetic identification of rare mendelian disorders
-
Lee H, Deignan JL, Dorrani N et al. Clinical exome sequencing for genetic identification of rare mendelian disorders. JAMA 2014: 312: 1880-1887.
-
(2014)
JAMA
, vol.312
, pp. 1880-1887
-
-
Lee, H.1
Deignan, J.L.2
Dorrani, N.3
-
6
-
-
73349110071
-
Exome sequencing identifies the cause of a mendelian disorder
-
Ng SB, Buckingham KJ, Lee C et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2010: 42: 30-35.
-
(2010)
Nat Genet
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
-
7
-
-
78649484216
-
A de novo paradigm for mental retardation
-
Vissers LE, de Ligt J, Gilissen C et al. A de novo paradigm for mental retardation. Nat Genet 2010: 42: 1109-1112.
-
(2010)
Nat Genet
, vol.42
, pp. 1109-1112
-
-
Vissers, L.E.1
de Ligt, J.2
Gilissen, C.3
-
8
-
-
26844525739
-
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency
-
Kurotaki N, Shen JJ, Touyama M et al. Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med 2005: 7: 479-483.
-
(2005)
Genet Med
, vol.7
, pp. 479-483
-
-
Kurotaki, N.1
Shen, J.J.2
Touyama, M.3
-
9
-
-
79251645624
-
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
-
Worthey EA, Mayer AN, Syverson GD et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med 2011: 13: 255-262.
-
(2011)
Genet Med
, vol.13
, pp. 255-262
-
-
Worthey, E.A.1
Mayer, A.N.2
Syverson, G.D.3
-
10
-
-
84867214350
-
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
-
154ra135
-
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
-
-
Saunders, C.J.1
Miller, N.A.2
Soden, S.E.3
-
11
-
-
77952888699
-
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
-
Hoischen A, van Bon BW, Gilissen C et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet 2010: 42: 483-485.
-
(2010)
Nat Genet
, vol.42
, pp. 483-485
-
-
Hoischen, A.1
van Bon, B.W.2
Gilissen, C.3
-
13
-
-
79952489518
-
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta
-
Becker J, Semler O, Gilissen C et al. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 2011: 88: 362-371.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 362-371
-
-
Becker, J.1
Semler, O.2
Gilissen, C.3
-
14
-
-
77957555078
-
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
-
Krawitz PM, Schweiger MR, Rodelsperger C et al. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet 2010: 42: 827-829.
-
(2010)
Nat Genet
, vol.42
, pp. 827-829
-
-
Krawitz, P.M.1
Schweiger, M.R.2
Rodelsperger, C.3
-
15
-
-
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
-
16
-
-
84939635642
-
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions
-
Farwell KD, Shahmirzadi L, El-Khechen D et al. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genet Med 2014. doi: 10.1038/gim.2014.154.
-
(2014)
Genet Med
-
-
Farwell, K.D.1
Shahmirzadi, L.2
El-Khechen, D.3
-
17
-
-
42149139456
-
ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007
-
Richards CS, Bale S, Bellissimo DB et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007. Genet Med 2008: 10: 294-300.
-
(2008)
Genet Med
, vol.10
, pp. 294-300
-
-
Richards, C.S.1
Bale, S.2
Bellissimo, D.B.3
-
18
-
-
84883897500
-
ACMG clinical laboratory standards for next-generation sequencing
-
Rehm HL, Bale SJ, Bayrak-Toydemir P et al. ACMG clinical laboratory standards for next-generation sequencing. Genet Med 2013: 15: 733-747.
-
(2013)
Genet Med
, vol.15
, pp. 733-747
-
-
Rehm, H.L.1
Bale, S.J.2
Bayrak-Toydemir, P.3
-
19
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
Green RCBJ, Grody WW, Kalia SS et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013: 15: 565-574.
-
(2013)
Genet Med
, vol.15
, pp. 565-574
-
-
Green, R.C.B.J.1
Grody, W.W.2
Kalia, S.S.3
-
20
-
-
84904255226
-
Genetic counselors' views and experiences with the clinical integration of genome sequencing
-
Machini K, Douglas J, Braxton A, Tsipis J, Kramer K. Genetic counselors' views and experiences with the clinical integration of genome sequencing. J Genet Couns 2014: 23: 496-505.
-
(2014)
J Genet Couns
, vol.23
, pp. 496-505
-
-
Machini, K.1
Douglas, J.2
Braxton, A.3
Tsipis, J.4
Kramer, K.5
-
21
-
-
84902578876
-
Diagnostic clinical genome and exome sequencing
-
Biesecker LG, Green RC. Diagnostic clinical genome and exome sequencing. N Engl J Med 2014: 370: 2418-2425.
-
(2014)
N Engl J Med
, vol.370
, pp. 2418-2425
-
-
Biesecker, L.G.1
Green, R.C.2
-
22
-
-
84868686559
-
Diagnostic exome sequencing in persons with severe intellectual disability
-
de Ligt J, Willemsen MH, van Bon BW et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012: 367: 1921-1929.
-
(2012)
N Engl J Med
, vol.367
, pp. 1921-1929
-
-
de Ligt, J.1
Willemsen, M.H.2
van Bon, B.W.3
-
23
-
-
84977072512
-
De novo mutation in the classic epileptic encephalopathies
-
Investigators. Epi4K. De novo mutation in the classic epileptic encephalopathies. Nature 2013: 501(7466): 217-221.
-
(2013)
Nature
, vol.501
, Issue.7466
, pp. 217-221
-
-
-
24
-
-
84881618216
-
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing
-
Piton A, Redin C, Mandel JL. XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet 2013: 93: 368-383.
-
(2013)
Am J Hum Genet
, vol.93
, pp. 368-383
-
-
Piton, A.1
Redin, C.2
Mandel, J.L.3
-
25
-
-
84925247962
-
Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines
-
Anderson JA, Hayeems R, Shuman C et al. Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines. Clin Genet 2014. doi: 10.1111/cge.12460.
-
(2014)
Clin Genet
-
-
Anderson, J.A.1
Hayeems, R.2
Shuman, C.3
-
26
-
-
84911973348
-
Views of primary care providers regarding the return of genome sequencing incidental findings
-
Strong KA, Zusevics KL, Bick D, Veith R. Views of primary care providers regarding the return of genome sequencing incidental findings. Clin Genet 2014: 86: 461-468.
-
(2014)
Clin Genet
, vol.86
, pp. 461-468
-
-
Strong, K.A.1
Zusevics, K.L.2
Bick, D.3
Veith, R.4
-
27
-
-
84905595265
-
Whole-genome sequencing and the clinician: a tale of two cities
-
Foley AR, Pitceathly RD, He J et al. Whole-genome sequencing and the clinician: a tale of two cities. J Neurol Neurosurg Psychiatry 2014: 85: 1012-1015.
-
(2014)
J Neurol Neurosurg Psychiatry
, vol.85
, pp. 1012-1015
-
-
Foley, A.R.1
Pitceathly, R.D.2
He, J.3
-
28
-
-
84894431411
-
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
-
Wang F, Wang H, Tuan HF et al. Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Hum Genet 2014: 133: 331-345.
-
(2014)
Hum Genet
, vol.133
, pp. 331-345
-
-
Wang, F.1
Wang, H.2
Tuan, H.F.3
|