-
1
-
-
80052575002
-
Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans.
-
10.1097/GIM.0b013e31821afca5, 21633293
-
Chen X, Thorburn DR, Wong LJ, Vladutiu GD, Haas RH, Le T, Hoppel C, Sedensky M, Morgan P, Hahn SH. Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans. Genet Med 2011, 13:794-799. 10.1097/GIM.0b013e31821afca5, 21633293.
-
(2011)
Genet Med
, vol.13
, pp. 794-799
-
-
Chen, X.1
Thorburn, D.R.2
Wong, L.J.3
Vladutiu, G.D.4
Haas, R.H.5
Le, T.6
Hoppel, C.7
Sedensky, M.8
Morgan, P.9
Hahn, S.H.10
-
2
-
-
66249136027
-
Mapping gene associations in human mitochondria using clinical disease phenotypes.
-
10.1371/journal.pcbi.1000374, 2668170, 19390613
-
Scharfe C, Lu HH, Neuenburg JK, Allen EA, Li GC, Klopstock T, Cowan TM, Enns GM, Davis RW. Mapping gene associations in human mitochondria using clinical disease phenotypes. PLoS Comput Biol 2009, 5:e1000374. 10.1371/journal.pcbi.1000374, 2668170, 19390613.
-
(2009)
PLoS Comput Biol
, vol.5
-
-
Scharfe, C.1
Lu, H.H.2
Neuenburg, J.K.3
Allen, E.A.4
Li, G.C.5
Klopstock, T.6
Cowan, T.M.7
Enns, G.M.8
Davis, R.W.9
-
3
-
-
77955883759
-
Recent advances in the genetics of mitochondrial encephalopathies.
-
10.1007/s11910-010-0112-8, 20446063
-
Tucker EJ, Compton AG, Thorburn DR. Recent advances in the genetics of mitochondrial encephalopathies. Curr Neurol Neurosci Rep 2010, 10:277-285. 10.1007/s11910-010-0112-8, 20446063.
-
(2010)
Curr Neurol Neurosci Rep
, vol.10
, pp. 277-285
-
-
Tucker, E.J.1
Compton, A.G.2
Thorburn, D.R.3
-
4
-
-
84856734831
-
Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options.
-
10.1093/brain/awr261, 22036961
-
Nouws J, Nijtmans LG, Smeitink JA, Vogel RO. Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options. Brain 2012, 135:12-22. 10.1093/brain/awr261, 22036961.
-
(2012)
Brain
, vol.135
, pp. 12-22
-
-
Nouws, J.1
Nijtmans, L.G.2
Smeitink, J.A.3
Vogel, R.O.4
-
5
-
-
77957957247
-
The mitochondrial proteome and human disease.
-
10.1146/annurev-genom-082509-141720, 20690818
-
Calvo SE, Mootha VK. The mitochondrial proteome and human disease. Annu Rev Genomics Hum Genet 2010, 11:25-44. 10.1146/annurev-genom-082509-141720, 20690818.
-
(2010)
Annu Rev Genomics Hum Genet
, vol.11
, pp. 25-44
-
-
Calvo, S.E.1
Mootha, V.K.2
-
6
-
-
84863012272
-
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
-
10.1126/scitranslmed.3003310, 22277967
-
Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med 2012, 4:118ra10. 10.1126/scitranslmed.3003310, 22277967.
-
(2012)
Sci Transl Med
, vol.4
-
-
Calvo, S.E.1
Compton, A.G.2
Hershman, S.G.3
Lim, S.C.4
Lieber, D.S.5
Tucker, E.J.6
Laskowski, A.7
Garone, C.8
Liu, S.9
Jaffe, D.B.10
Christodoulou, J.11
Fletcher, J.M.12
Bruno, D.L.13
Goldblatt, J.14
Dimauro, S.15
Thorburn, D.R.16
Mootha, V.K.17
-
7
-
-
79551505365
-
Massively parallel sequencing and rare disease.
-
10.1093/hmg/ddq390, 2953741, 20846941
-
Ng SB, Nickerson DA, Bamshad MJ, Shendure J. Massively parallel sequencing and rare disease. Hum Mol Genet 2010, 19:R119-124. 10.1093/hmg/ddq390, 2953741, 20846941.
-
(2010)
Hum Mol Genet
, vol.19
-
-
Ng, S.B.1
Nickerson, D.A.2
Bamshad, M.J.3
Shendure, J.4
-
8
-
-
84857794576
-
Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.
-
10.1002/humu.21654, 22072591
-
Tucker EJ, Mimaki M, Compton AG, McKenzie M, Ryan MT, Thorburn DR. Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. Hum Mutat 2012, 33:411-418. 10.1002/humu.21654, 22072591.
-
(2012)
Hum Mutat
, vol.33
, pp. 411-418
-
-
Tucker, E.J.1
Mimaki, M.2
Compton, A.G.3
McKenzie, M.4
Ryan, M.T.5
Thorburn, D.R.6
-
9
-
-
76249100243
-
Next generation sequence analysis for mitochondrial disorders.
-
10.1186/gm100, 2784303, 19852779
-
Vasta V, Ng S, Turner E, Shendure J, Hahn S. Next generation sequence analysis for mitochondrial disorders. Genome Med 2009, 1:100. 10.1186/gm100, 2784303, 19852779.
-
(2009)
Genome Med
, vol.1
, pp. 100
-
-
Vasta, V.1
Ng, S.2
Turner, E.3
Shendure, J.4
Hahn, S.5
-
10
-
-
78651393550
-
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
-
10.1126/scitranslmed.3001756, 21228398
-
Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 2011, 3:65ra4. 10.1126/scitranslmed.3001756, 21228398.
-
(2011)
Sci Transl Med
, vol.3
-
-
Bell, C.J.1
Dinwiddie, D.L.2
Miller, N.A.3
Hateley, S.L.4
Ganusova, E.E.5
Mudge, J.6
Langley, R.J.7
Zhang, L.8
Lee, C.C.9
Schilkey, F.D.10
Sheth, V.11
Woodward, J.E.12
Peckham, H.E.13
Schroth, G.P.14
Kim, R.W.15
Kingsmore, S.F.16
|