-
1
-
-
84865166506
-
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus
-
Aldahmesh MA, Khan AO, Mohamed JY, Alghamdi MH, Alkuraya FS. 2012. Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. Hum Mutat 33:960-962.
-
(2012)
Hum Mutat
, vol.33
, pp. 960-962
-
-
Aldahmesh, M.A.1
Khan, A.O.2
Mohamed, J.Y.3
Alghamdi, M.H.4
Alkuraya, F.S.5
-
2
-
-
33749016803
-
Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families
-
Carr IM, Flintoff KJ, Taylor GR, Markham AF, Bonthron DT. 2006. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families. Hum Mutat 27:1041-1046.
-
(2006)
Hum Mutat
, vol.27
, pp. 1041-1046
-
-
Carr, I.M.1
Flintoff, K.J.2
Taylor, G.R.3
Markham, A.F.4
Bonthron, D.T.5
-
3
-
-
66349109623
-
IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease
-
Carr IM, Sheridan E, Hayward BE, Markham AF, Bonthron DT. 2009. IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease. Hum Mutat 30:960-967.
-
(2009)
Hum Mutat
, vol.30
, pp. 960-967
-
-
Carr, I.M.1
Sheridan, E.2
Hayward, B.E.3
Markham, A.F.4
Bonthron, D.T.5
-
4
-
-
80051548898
-
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth
-
Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, et al. 2011. Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. Am J Hum Genet 89:148-53.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 148-153
-
-
Hanson, D.1
Murray, P.G.2
O'Sullivan, J.3
Urquhart, J.4
Daly, S.5
Bhaskar, S.S.6
Biesecker, L.G.7
Skae, M.8
Smith, C.9
Cole, T.10
Kirk, J.11
Chandler, K.12
-
5
-
-
0023239442
-
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children
-
Lander ES, Botstein D. 1987. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236:1567-1570.
-
(1987)
Science
, vol.236
, pp. 1567-1570
-
-
Lander, E.S.1
Botstein, D.2
-
6
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H, Durbin R. 2009. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25:1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
7
-
-
68549104404
-
The sequence alignment/map (SAM) format and SAMtools
-
1000 Genome Project Data Processing Subgroup
-
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R, 1000 Genome Project Data Processing Subgroup. 2009. The sequence alignment/map (SAM) format and SAMtools. Bioinformatics 25:2078-2079.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
T, F.4
Ruan, J.5
Homer, N.6
Marth, G.7
Abecasis, G.8
Durbin, R.9
-
8
-
-
0027328537
-
Autozygosity mapping, complex consanguinity, consanguinity, and autosomal recessive disorders
-
Mueller RF, Bishop DT. 1993. Autozygosity mapping, complex consanguinity, consanguinity, and autosomal recessive disorders. J Med Genet 30:798-799.
-
(1993)
J Med Genet
, vol.30
, pp. 798-799
-
-
Mueller, R.F.1
Bishop, D.T.2
-
10
-
-
84864421963
-
HomozygosityMapper2012-bridging the gap between homozygosity mapping and deep sequencing
-
Seelow D, Schuelke M. 2012. HomozygosityMapper2012-bridging the gap between homozygosity mapping and deep sequencing. Nucleic Acids Res. 40:W516-W520.
-
(2012)
Nucleic Acids Res
, vol.40
-
-
Seelow, D.1
Schuelke, M.2
-
11
-
-
84864112680
-
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
-
Shamseldin HE, Alshammari M, Al-Sheddi T, Salih MA, Alkhalidi H, Kentab A, Repetto GM, Hashem M, Alkuraya FS. 2012. Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. J Med Genet 49:234-241.
-
(2012)
J Med Genet
, vol.49
, pp. 234-241
-
-
Shamseldin, H.E.1
Alshammari, M.2
Al-Sheddi, T.3
Salih, M.A.4
Alkhalidi, H.5
Kentab, A.6
Repetto, G.M.7
Hashem, M.8
Alkuraya, F.S.9
-
12
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
The 1000 Genomes Project Consortium. Nature
-
The 1000 Genomes Project Consortium. 2011. A map of human genome variation from population-scale sequencing. Nature 467:1061-1073.
-
(2011)
, vol.467
, pp. 1061-1073
-
-
|