-
1
-
-
66749148353
-
A systematic, large scale resequencing screen of the X chromosome coding exons in mental retardation
-
in press
-
Tarpey, P., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Tofts, C., Dicks, E., Menzies, A. et al. (2009) A systematic, large scale resequencing screen of the X chromosome coding exons in mental retardation. Nat. Genet., in press.
-
(2009)
Nat. Genet
-
-
Tarpey, P.1
Smith, R.2
Pleasance, E.3
Whibley, A.4
Edkins, S.5
Hardy, C.6
O'Meara, S.7
Tofts, C.8
Dicks, E.9
Menzies, A.10
-
2
-
-
42249087308
-
The complete genome of an individual by massively parallel DNA sequencing
-
Wheeler, D.A., Srinivasan, M., Egholm, M., Shen, Y., Chen, L., McGuire, A., He, W., Chen, Y.J., Makhijani, V., Roth, G.T. et al. (2008) The complete genome of an individual by massively parallel DNA sequencing. Nature, 452, 872-876.
-
(2008)
Nature
, vol.452
, pp. 872-876
-
-
Wheeler, D.A.1
Srinivasan, M.2
Egholm, M.3
Shen, Y.4
Chen, L.5
McGuire, A.6
He, W.7
Chen, Y.J.8
Makhijani, V.9
Roth, G.T.10
-
3
-
-
33750953227
-
Whole-genome re-sequencing
-
Bentley, D.R. (2006) Whole-genome re-sequencing. Curr. Opin. Genet. Dev., 16, 545-552.
-
(2006)
Curr. Opin. Genet. Dev
, vol.16
, pp. 545-552
-
-
Bentley, D.R.1
-
4
-
-
3242696203
-
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation
-
Tarpey, P., Parnau, J., Blow, M., Woffendin, H., Bignell, G., Cox, C., Cox, J., Davies, H., Edkins, S., Holden, S. et al. (2004) Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. Am. J. Hum. Genet., 75, 218-324.
-
(2004)
Am. J. Hum. Genet
, vol.75
, pp. 218-324
-
-
Tarpey, P.1
Parnau, J.2
Blow, M.3
Woffendin, H.4
Bignell, G.5
Cox, C.6
Cox, J.7
Davies, H.8
Edkins, S.9
Holden, S.10
-
5
-
-
33750466907
-
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus
-
Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C.J., Roberts, E.O., Awan, M., Surendran, M., McLean, R.J. et al. (2006) Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat. Genet., 38 1242-1244.
-
(2006)
Nat. Genet
, vol.38
, pp. 1242-1244
-
-
Tarpey, P.1
Thomas, S.2
Sarvananthan, N.3
Mallya, U.4
Lisgo, S.5
Talbot, C.J.6
Roberts, E.O.7
Awan, M.8
Surendran, M.9
McLean, R.J.10
-
6
-
-
34548353924
-
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
-
Tarpey, P.S., Raymond, F.L., Nguyen, L.S., Rodriguez, J., Hackett, A., Vandeleur, L., Smith, R., Shoubridge, C., Edkins, S., Stevens, C. et al. (2007) Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat. Genet., 39, 1127-1133.
-
(2007)
Nat. Genet
, vol.39
, pp. 1127-1133
-
-
Tarpey, P.S.1
Raymond, F.L.2
Nguyen, L.S.3
Rodriguez, J.4
Hackett, A.5
Vandeleur, L.6
Smith, R.7
Shoubridge, C.8
Edkins, S.9
Stevens, C.10
-
7
-
-
33846639529
-
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor
-
Tarpey, P.S., Raymond, F.L., O'Meara, S., Edkins, S., Teague, J., Butler, A., Dicks, E., Stevens, C., Tofts, C., Avis, T. et al. (2007) Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Am. J. Hum. Genet., 80, 345-352.
-
(2007)
Am. J. Hum. Genet
, vol.80
, pp. 345-352
-
-
Tarpey, P.S.1
Raymond, F.L.2
O'Meara, S.3
Edkins, S.4
Teague, J.5
Butler, A.6
Dicks, E.7
Stevens, C.8
Tofts, C.9
Avis, T.10
-
8
-
-
33845207302
-
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation
-
Tarpey, P.S., Stevens, C., Teague, J., Edkins, S., O'Meara, S., Avis, T., Barthorpe, S., Buck, G., Butler, A., Cole, J. et al. (2006) Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. Am. J. Hum. Genet., 79, 1119-1124.
-
(2006)
Am. J. Hum. Genet
, vol.79
, pp. 1119-1124
-
-
Tarpey, P.S.1
Stevens, C.2
Teague, J.3
Edkins, S.4
O'Meara, S.5
Avis, T.6
Barthorpe, S.7
Buck, G.8
Butler, A.9
Cole, J.10
-
9
-
-
34247636034
-
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus
-
Raymond, F.L., Tarpey, P.S., Edkins, S., Tofts, C., O'Meara, S., Teague, J., Butler, A., Stevens, C., Barthorpe, S., Buck, G. et al. (2007) Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. Am. J. Hum. Genet., 80, 982-987.
-
(2007)
Am. J. Hum. Genet
, vol.80
, pp. 982-987
-
-
Raymond, F.L.1
Tarpey, P.S.2
Edkins, S.3
Tofts, C.4
O'Meara, S.5
Teague, J.6
Butler, A.7
Stevens, C.8
Barthorpe, S.9
Buck, G.10
-
10
-
-
33750981002
-
Mutations in the RSK2 (RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation
-
Field, M., Tarpey, P., Boyle, J., Edkins, S., Goodship, J., Luo, Y., Moon, J., Teague, J., Stratton, M.R., Futreal, P.A. et al. (2006) Mutations in the RSK2 (RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. Clin. Genet., 70 509-515.
-
(2006)
Clin. Genet
, vol.70
, pp. 509-515
-
-
Field, M.1
Tarpey, P.2
Boyle, J.3
Edkins, S.4
Goodship, J.5
Luo, Y.6
Moon, J.7
Teague, J.8
Stratton, M.R.9
Futreal, P.A.10
-
11
-
-
34547732455
-
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly
-
Field, M., Tarpey, P.S., Smith, R., Edkins, S., O'Meara, S., Stevens, C., Tofts, C., Teague, J., Butler, A., Dicks, E. et al. (2007) Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. Am. J. Hum. Genet., 81, 367-374.
-
(2007)
Am. J. Hum. Genet
, vol.81
, pp. 367-374
-
-
Field, M.1
Tarpey, P.S.2
Smith, R.3
Edkins, S.4
O'Meara, S.5
Stevens, C.6
Tofts, C.7
Teague, J.8
Butler, A.9
Dicks, E.10
-
12
-
-
34447342555
-
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
-
Schwartz, C.E., Tarpey, P.S., Lubs, H.A., Verloes, A., May, M.M., Risheg, H., Friez, M.J., Futreal, P.A., Edkins, S., Teague, J. et al. (2007) The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J. Med. Genet., 44 472-477.
-
(2007)
J. Med. Genet
, vol.44
, pp. 472-477
-
-
Schwartz, C.E.1
Tarpey, P.S.2
Lubs, H.A.3
Verloes, A.4
May, M.M.5
Risheg, H.6
Friez, M.J.7
Futreal, P.A.8
Edkins, S.9
Teague, J.10
-
13
-
-
42749084689
-
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation
-
Molinari, F., Foulquier, F., Tarpey, P.S., Morelle, W., Boissel, S., Teague, J., Edkins, S., Futreal, P.A., Stratton, M.R., Turner, G. et al. (2008) Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am. J. Hum. Genet., 82, 1150-1157.
-
(2008)
Am. J. Hum. Genet
, vol.82
, pp. 1150-1157
-
-
Molinari, F.1
Foulquier, F.2
Tarpey, P.S.3
Morelle, W.4
Boissel, S.5
Teague, J.6
Edkins, S.7
Futreal, P.A.8
Stratton, M.R.9
Turner, G.10
-
14
-
-
41549149493
-
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
-
Gilfillan, G.D., Selmer, K.K., Roxrud, I., Smith, R., Kyllerman, M., Eiklid, K., Kroken, M., Mattingsdal, M., Egeland, T., Stenmark, H. et al. (2008) SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am. J. Hum. Genet., 82, 1003-1010.
-
(2008)
Am. J. Hum. Genet
, vol.82
, pp. 1003-1010
-
-
Gilfillan, G.D.1
Selmer, K.K.2
Roxrud, I.3
Smith, R.4
Kyllerman, M.5
Eiklid, K.6
Kroken, M.7
Mattingsdal, M.8
Egeland, T.9
Stenmark, H.10
-
15
-
-
36749009127
-
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans
-
Wu, Y., Arai, A.C., Rumbaugh, G., Srivastava, A.K., Turner, G., Hayashi, T., Suzuki, E., Jiang, Y., Zhang, L., Rodriguez, J. et al. (2007) Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. Proc. Natl Acad. Sci. USA, 104, 18163-18168.
-
(2007)
Proc. Natl Acad. Sci. USA
, vol.104
, pp. 18163-18168
-
-
Wu, Y.1
Arai, A.C.2
Rumbaugh, G.3
Srivastava, A.K.4
Turner, G.5
Hayashi, T.6
Suzuki, E.7
Jiang, Y.8
Zhang, L.9
Rodriguez, J.10
-
16
-
-
40749130484
-
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
-
Froyen, G., Corbett, M., Vandewalle, J., Jarvela, I., Lawrence, O., Meldrum, C., Bauters, M., Govaerts, K., Vandeleur, L., Van Esch, H. et al. (2008) Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am. J. Hum. Genet., 82, 432-443.
-
(2008)
Am. J. Hum. Genet
, vol.82
, pp. 432-443
-
-
Froyen, G.1
Corbett, M.2
Vandewalle, J.3
Jarvela, I.4
Lawrence, O.5
Meldrum, C.6
Bauters, M.7
Govaerts, K.8
Vandeleur, L.9
Van Esch, H.10
-
17
-
-
44349150359
-
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
-
Dibbens, L.M., Tarpey, P.S., Hynes, K., Bayly, M.A., Scheffer, I.E., Smith, R., Bomar, J., Sutton, E., Vandeleur, L., Shoubridge, C. et al. (2008) X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat. Genet., 40, 776-781.
-
(2008)
Nat. Genet
, vol.40
, pp. 776-781
-
-
Dibbens, L.M.1
Tarpey, P.S.2
Hynes, K.3
Bayly, M.A.4
Scheffer, I.E.5
Smith, R.6
Bomar, J.7
Sutton, E.8
Vandeleur, L.9
Shoubridge, C.10
-
18
-
-
34147154100
-
Medical sequencing at the extremes of human body mass
-
Ahituv, N., Kavaslar, N., Schackwitz, W., Ustaszewska, A., Martin, J., Hebert, S., Doelle, H., Ersoy, B., Kryukov, G., Schmidt, S. et al. (2007) Medical sequencing at the extremes of human body mass. Am. J. Hum. Genet., 80, 779-791.
-
(2007)
Am. J. Hum. Genet
, vol.80
, pp. 779-791
-
-
Ahituv, N.1
Kavaslar, N.2
Schackwitz, W.3
Ustaszewska, A.4
Martin, J.5
Hebert, S.6
Doelle, H.7
Ersoy, B.8
Kryukov, G.9
Schmidt, S.10
-
19
-
-
33845526951
-
X-linked mental retardation: A comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11
-
Jensen, L.R., Lenzner, S., Moser, B., Freude, K., Tzschach, A., Wei, C., Fryns, J.P., Chelly, J., Turner, G., Moraine, C. et al. (2007) X-linked mental retardation: A comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11. Eur. J. Hum. Genet. 15, 68-75.
-
(2007)
Eur. J. Hum. Genet
, vol.15
, pp. 68-75
-
-
Jensen, L.R.1
Lenzner, S.2
Moser, B.3
Freude, K.4
Tzschach, A.5
Wei, C.6
Fryns, J.P.7
Chelly, J.8
Turner, G.9
Moraine, C.10
-
20
-
-
0037866676
-
Nonsyndromic X-linked mental retardation: Where are the missing mutations?
-
Ropers, H.H., Hoeltzenbein, M., Kalscheuer, V., Yntema, H., Hamel, B., Fryns, J.P., Chelly, J., Partington, M., Gecz, J. and Moraine, C. (2003) Nonsyndromic X-linked mental retardation: Where are the missing mutations? Trends Genet., 19, 316-320.
-
(2003)
Trends Genet
, vol.19
, pp. 316-320
-
-
Ropers, H.H.1
Hoeltzenbein, M.2
Kalscheuer, V.3
Yntema, H.4
Hamel, B.5
Fryns, J.P.6
Chelly, J.7
Partington, M.8
Gecz, J.9
Moraine, C.10
-
21
-
-
85047698106
-
Hypothesis: A novel route for immortalization of epithelial cells by Epstein-Barr virus
-
Gao, Y., Lu, Y.J., Xue, S.A., Chen, H., Wedderburn, N. and Griffin, B.E. (2002) Hypothesis: A novel route for immortalization of epithelial cells by Epstein-Barr virus. Oncogene, 21, 825-835.
-
(2002)
Oncogene
, vol.21
, pp. 825-835
-
-
Gao, Y.1
Lu, Y.J.2
Xue, S.A.3
Chen, H.4
Wedderburn, N.5
Griffin, B.E.6
-
22
-
-
34547629025
-
Epstein-Barr virus promotes genomic instability in Burkitt's lymphoma
-
Kamranvar, S.A., Gruhne, B., Szeles, A. and Masucci, M.G. (2007) Epstein-Barr virus promotes genomic instability in Burkitt's lymphoma. Oncogene, 26, 5115-5123.
-
(2007)
Oncogene
, vol.26
, pp. 5115-5123
-
-
Kamranvar, S.A.1
Gruhne, B.2
Szeles, A.3
Masucci, M.G.4
-
23
-
-
34547830420
-
AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes
-
Dicks, E., Teague, J.W., Stephens, P., Raine, K., Yates, A., Mattocks, C., Tarpey, P., Butler, A., Menzies, A., Richardson, D. et al. (2007) AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes. Bioinformatics, 23, 1689-1691.
-
(2007)
Bioinformatics
, vol.23
, pp. 1689-1691
-
-
Dicks, E.1
Teague, J.W.2
Stephens, P.3
Raine, K.4
Yates, A.5
Mattocks, C.6
Tarpey, P.7
Butler, A.8
Menzies, A.9
Richardson, D.10
-
24
-
-
56749091916
-
Genetic research on rare familial disorders: Consent and the blurred boundaries between clinical service and research
-
Ponder, M., Statham, H., Hallowell, N., Moon, J.A., Richards, M. and Raymond, F.L. (2008) Genetic research on rare familial disorders: consent and the blurred boundaries between clinical service and research. J. Med. Ethics, 34, 690-694.
-
(2008)
J. Med. Ethics
, vol.34
, pp. 690-694
-
-
Ponder, M.1
Statham, H.2
Hallowell, N.3
Moon, J.A.4
Richards, M.5
Raymond, F.L.6
-
25
-
-
1642475221
-
Extensive gene traffic on the mammalian X chromosome
-
Emerson, J.J., Kaessmann, H., Betran, E. and Long, M. (2004) Extensive gene traffic on the mammalian X chromosome. Science, 303, 537-540.
-
(2004)
Science
, vol.303
, pp. 537-540
-
-
Emerson, J.J.1
Kaessmann, H.2
Betran, E.3
Long, M.4
-
26
-
-
43249118306
-
Chromosomal gene movements reflect the recent origin and biology of therian sex chromosomes
-
Potrzebowski, L., Vinckenbosch, N., Marques, A.C., Chalmel, F., Jegou, B. and Kaessmann, H. (2008) Chromosomal gene movements reflect the recent origin and biology of therian sex chromosomes. PLoS Biol., 6, e80.
-
(2008)
PLoS Biol
, vol.6
-
-
Potrzebowski, L.1
Vinckenbosch, N.2
Marques, A.C.3
Chalmel, F.4
Jegou, B.5
Kaessmann, H.6
-
27
-
-
33644777605
-
Evolutionary fate of retroposed gene copies in the human genome
-
Vinckenbosch, N., Dupanloup, I. and Kaessmann, H. (2006) Evolutionary fate of retroposed gene copies in the human genome. Proc. Natl Acad. Sci. USA, 103, 3220-3225.
-
(2006)
Proc. Natl Acad. Sci. USA
, vol.103
, pp. 3220-3225
-
-
Vinckenbosch, N.1
Dupanloup, I.2
Kaessmann, H.3
-
28
-
-
27844557002
-
Emergence of young human genes after a burst of retroposition in primates
-
Marques, A.C., Dupanloup, I., Vinckenbosch, N., Reymond, A. and Kaessmann, H. (2005) Emergence of young human genes after a burst of retroposition in primates. PLoS Biol., 3, e357.
-
(2005)
PLoS Biol
, vol.3
-
-
Marques, A.C.1
Dupanloup, I.2
Vinckenbosch, N.3
Reymond, A.4
Kaessmann, H.5
-
29
-
-
0016197604
-
Amino acid difference formula to help explain protein evolution
-
Grantham, R. (1974) Amino acid difference formula to help explain protein evolution. Science, 185, 862-864.
-
(1974)
Science
, vol.185
, pp. 862-864
-
-
Grantham, R.1
-
30
-
-
0036681416
-
Scoring residue conservation
-
Valdar, W.S. (2002) Scoring residue conservation. Proteins, 48 227-241.
-
(2002)
Proteins
, vol.48
, pp. 227-241
-
-
Valdar, W.S.1
-
31
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
-
Amir, R.E., Van den Veyver, I.B., Wan, M., Tran, C.Q., Francke, U. and Zoghbi, H.Y. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet., 23 185-188.
-
(1999)
Nat. Genet
, vol.23
, pp. 185-188
-
-
Amir, R.E.1
Van den Veyver, I.B.2
Wan, M.3
Tran, C.Q.4
Francke, U.5
Zoghbi, H.Y.6
-
32
-
-
0035205331
-
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome
-
Kenwrick, S., Woffendin, H., Jakins, T., Shuttleworth, S.G., Mayer, E., Greenhalgh, L., Whittaker, J., Rugolotto, S., Bardaro, T., Esposito, T. et al. (2001) Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am. J. Hum. Genet., 69, 1210-1217.
-
(2001)
Am. J. Hum. Genet
, vol.69
, pp. 1210-1217
-
-
Kenwrick, S.1
Woffendin, H.2
Jakins, T.3
Shuttleworth, S.G.4
Mayer, E.5
Greenhalgh, L.6
Whittaker, J.7
Rugolotto, S.8
Bardaro, T.9
Esposito, T.10
-
33
-
-
50449089620
-
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
-
Najm, J., Horn, D., Wimplinger, I., Golden, J.A., Chizhikov, V.V., Sudi, J., Christian, S.L., Ullmann, R., Kuechler, A., Haas, C.A. et al. (2008) Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat. Genet., 40, 1065-1067.
-
(2008)
Nat. Genet
, vol.40
, pp. 1065-1067
-
-
Najm, J.1
Horn, D.2
Wimplinger, I.3
Golden, J.A.4
Chizhikov, V.V.5
Sudi, J.6
Christian, S.L.7
Ullmann, R.8
Kuechler, A.9
Haas, C.A.10
-
34
-
-
8844269073
-
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
-
Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P. et al. (2004) Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am. J. Hum. Genet., 75, 1079-1093.
-
(2004)
Am. J. Hum. Genet
, vol.75
, pp. 1079-1093
-
-
Weaving, L.S.1
Christodoulou, J.2
Williamson, S.L.3
Friend, K.L.4
McKenzie, O.L.5
Archer, H.6
Evans, J.7
Clarke, A.8
Pelka, G.J.9
Tam, P.P.10
|