-
1
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J. Targeted capture and massively parallel sequencing of 12 human exomes. Nature. 2009;461:272-276.
-
(2009)
Nature
, vol.461
, pp. 272-276
-
-
Ng, S.B.1
Turner, E.H.2
Robertson, P.D.3
Flygare, S.D.4
Bigham, A.W.5
Lee, C.6
Shaffer, T.7
Wong, M.8
Bhattacharjee, A.9
Eichler, E.E.10
Bamshad, M.11
Nickerson, D.A.12
Shendure, J.13
-
2
-
-
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, Helbling D, Bonacci BB, Decker B, Serpe JM, Dasu T, Tschannen MR, Veith RL, Basehore MJ, Broeckel U, Tomita-Mitchell A, Arca MJ, Casper JT, Margolis DA, Bick DP, Hessner MJ, Routes JM, Verbsky JW, Jacob HJ, Dimmock DP. 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
Helbling, D.4
Bonacci, B.B.5
Decker, B.6
Serpe, J.M.7
Dasu, T.8
Tschannen, M.R.9
Veith, R.L.10
Basehore, M.J.11
Broeckel, U.12
Tomita-Mitchell, A.13
Arca, M.J.14
Casper, J.T.15
Margolis, D.A.16
Bick, D.P.17
Hessner, M.J.18
Routes, J.M.19
Verbsky, J.W.20
Jacob, H.J.21
Dimmock, D.P.22
more..
-
3
-
-
79953825909
-
Revisiting Mendelian disorders through exome sequencing
-
Ku CS, Naidoo N, Pawitan Y. Revisiting Mendelian disorders through exome sequencing. Hum Genet. 2011;129:351-370.
-
(2011)
Hum Genet
, vol.129
, pp. 351-370
-
-
Ku, C.S.1
Naidoo, N.2
Pawitan, Y.3
-
4
-
-
84865790047
-
An integrated encyclopedia of DNA elements in the human genome
-
The ENCODE Project Consortium
-
The ENCODE Project Consortium. An integrated encyclopedia of DNA elements in the human genome. Nature. 2012;489:57-74.
-
(2012)
Nature
, vol.489
, pp. 57-74
-
-
-
5
-
-
84874664698
-
Calmodulin mutations associated with recurrent cardiac arrest in infants
-
Crotti L, Johnson CN, Graf E, De Ferrari GM, Cuneo BF, Ovadia M, Papagiannis J, Feldkamp MD, Rathi SG, Kunic JD, Pedrazzini M, Wieland T, Lichtner P, Beckmann BM, Clark T, Shaffer C, Benson DW, Kääb S, Meitinger T, Strom TM, Chazin WJ, Schwartz PJ, George AL Jr. Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation. 2013;127:1009-1017.
-
(2013)
Circulation
, vol.127
, pp. 1009-1017
-
-
Crotti, L.1
Johnson, C.N.2
Graf, E.3
De Ferrari, G.M.4
Cuneo, B.F.5
Ovadia, M.6
Papagiannis, J.7
Feldkamp, M.D.8
Rathi, S.G.9
Kunic, J.D.10
Pedrazzini, M.11
Wieland, T.12
Lichtner, P.13
Beckmann, B.M.14
Clark, T.15
Shaffer, C.16
Benson, D.W.17
Kääb, S.18
Meitinger, T.19
Strom, T.M.20
Chazin, W.J.21
Schwartz, P.J.22
George Jr., A.L.23
more..
-
6
-
-
77956642100
-
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
-
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010;42:790-793.
-
(2010)
Nat Genet
, vol.42
, pp. 790-793
-
-
Ng, S.B.1
Bigham, A.W.2
Buckingham, K.J.3
Hannibal, M.C.4
McMillin, M.J.5
Gildersleeve, H.I.6
Beck, A.E.7
Tabor, H.K.8
Cooper, G.M.9
Mefford, H.C.10
Lee, C.11
Turner, E.H.12
Smith, J.D.13
Rieder, M.J.14
Yoshiura, K.15
Matsumoto, N.16
Ohta, T.17
Niikawa, N.18
Nickerson, D.A.19
Bamshad, M.J.20
Shendure, J.21
more..
-
7
-
-
1842452959
-
Genotypic and phenotypic heterogeneity in familial microcoria
-
Bremner FD, Houlden H, Smith SE. Genotypic and phenotypic heterogeneity in familial microcoria. Br J Ophthalmol. 2004;88:469-473.
-
(2004)
Br J Ophthalmol
, vol.88
, pp. 469-473
-
-
Bremner, F.D.1
Houlden, H.2
Smith, S.E.3
-
8
-
-
84867242998
-
Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death
-
Nyegaard M, Overgaard MT, Søndergaard MT, Vranas M, Behr ER, Hildebrandt LL, Lund J, Hedley PL, Camm AJ, Wettrell G, Fosdal I, Christiansen M, Børglum AD. Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. Am J Hum Genet. 2012;91:703-712.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 703-712
-
-
Nyegaard, M.1
Overgaard, M.T.2
Søndergaard, M.T.3
Vranas, M.4
Behr, E.R.5
Hildebrandt, L.L.6
Lund, J.7
Hedley, P.L.8
Camm, A.J.9
Wettrell, G.10
Fosdal, I.11
Christiansen, M.12
Børglum, A.D.13
-
9
-
-
79955056302
-
Medical DNA sequencing
-
Marian AJ. Medical DNA sequencing. Curr Opin Cardiol. 2011;26:175-180.
-
(2011)
Curr Opin Cardiol
, vol.26
, pp. 175-180
-
-
Marian, A.J.1
-
10
-
-
22244480355
-
RET proto-oncogene: A review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors
-
Kouvaraki MA, Shapiro SE, Perrier ND, Cote GJ, Gagel RF, Hoff AO, Sherman SI, Lee JE, Evans DB. RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors. Thyroid. 2005;15:531-544.
-
(2005)
Thyroid
, vol.15
, pp. 531-544
-
-
Kouvaraki, M.A.1
Shapiro, S.E.2
Perrier, N.D.3
Cote, G.J.4
Gagel, R.F.5
Hoff, A.O.6
Sherman, S.I.7
Lee, J.E.8
Evans, D.B.9
-
11
-
-
84856257607
-
Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure
-
Goh V, Helbling D, Biank V, Jarzembowski J, Dimmock D. Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure. J Pediatr Gastroenterol Nutr. 2012;54:291-294.
-
(2012)
J Pediatr Gastroenterol Nutr
, vol.54
, pp. 291-294
-
-
Goh, V.1
Helbling, D.2
Biank, V.3
Jarzembowski, J.4
Dimmock, D.5
-
12
-
-
84869436774
-
Interpreting noncoding genetic variation in complex traits and human disease
-
Ward LD, Kellis M. Interpreting noncoding genetic variation in complex traits and human disease. Nat Biotechnol. 2012;30:1095-1106.
-
(2012)
Nat Biotechnol
, vol.30
, pp. 1095-1106
-
-
Ward, L.D.1
Kellis, M.2
-
13
-
-
84875247685
-
Mutational analysis of FBXO7 gene in Parkinson's disease in a Taiwanese population
-
Published online before print January 23 doi:10.1016/j.neurobiolaging. 2012.12.023 )00656-2/abstract. Accessed January 29
-
Lin CH, Chen ML, Lai TT, Tai CH, Wu RM. Mutational analysis of FBXO7 gene in Parkinson's disease in a Taiwanese population. Neurobiol Aging. Published online before print January 23, 2013. doi:10.1016/j.neurobiolaging. 2012.12.023. http://www.neurobiologyofaging.org/article/S0197-4580(12)00656-2/abstract. Accessed January 29, 2013.
-
(2013)
Neurobiol Aging
, Issue.12
, pp. 2013
-
-
Lin, C.H.1
Chen, M.L.2
Lai, T.T.3
Tai, C.H.4
Wu, R.M.5
-
14
-
-
84868616287
-
Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder
-
Steinberg KM, Ramachandran D, Patel VC, Shetty AC, Cutler DJ, Zwick ME. Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder. Mol Autism. 2012;3:8.
-
(2012)
Mol Autism
, vol.3
, pp. 8
-
-
Steinberg, K.M.1
Ramachandran, D.2
Patel, V.C.3
Shetty, A.C.4
Cutler, D.J.5
Zwick, M.E.6
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