|
1
|
van Dijk EL, Auger H, Jaszczyszyn Y and
Thermes C: Ten years of next-generation sequencing technology.
Trends Genet. 30:418–426. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Pelak K, Shianna KV, Ge D, Maia JM, Zhu M,
Smith JP, Cirulli ET, Fellay J, Dickson SP, Gumbs CE, et al: The
characterization of twenty sequenced human genomes. PLoS Genet.
6:e10011112010. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Robinson PN, Krawitz P and Mundlos S:
Strategies for exome and genome sequence data analysis in disease
gene discovery projects. Clin Genet. 80:127–132. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Danecek P, Auton A, Abecasis G, Albers CA,
Banks E, DePristo MA, Handsaker RE, Lunter G, Marth GT, Sherry ST,
et al 1000 Genomes Project Analysis Group: The variant call format
and VCF tools. Bioinformatics. 27:2156–2158. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Wang K, Li M and Hakonarson H: ANNOVAR:
Functional annotation of genetic variants from high-throughput
sequencing data. Nucleic Acids Res. 38:e1642010. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Adzhubei IA, Schmidt S, Peshkin L,
Ramensky VE, Gerasimova A, Bork P, Kondrashov AS and Sunyaev SR: A
method and server for predicting damaging missense mutations. Nat
Methods. 7:248–249. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Schwarz JM, Rödelsperger C, Schuelke M and
Seelow D: MutationTaster evaluates disease-causing potential of
sequence alterations. Nat Methods. 7:575–576. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Liu X, Jian X and Boerwinkle E: dbNSFP
v2.0: A database of human non-synonymous SNVs and their functional
predictions and annotations. Hum Mutat. 34:E2393–E2402. 2013.
View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Tilley WD, Marcelli M, Wilson JD and
McPhaul MJ: Characterization and expression of a cDNA encoding the
human androgen receptor. Proc Natl Acad Sci USA. 86:327–331. 1989.
View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Shoemaker JD and Elliott WH: Automated
screening of urine samples for carbohydrates, organic and amino
acids after treatment with urease. J Chromatogr A. 562:125–138.
1991. View Article : Google Scholar
|
|
11
|
Goldstein JL and Brown MS: Regulation of
the mevalonate pathway. Nature. 343:425–430. 1990. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Haas D and Hoffmann GF: Mevalonate kinase
deficiencies: From mevalonic aciduria to hyperimmunoglobulinemia D
syndrome. Orphanet J Rare Dis. 1:132006. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Bedoyan JK, Schaibley VM, Peng W, Bai Y,
Mondal K, Shetty AC, Durham M, Micucci JA, Dhiraaj A, Skidmore JM,
et al: Disruption of RAB40AL function leads to Martin-Probst
syndrome, a rare X-linked multisystem neurodevelopmental human
disorder. J Med Genet. 49:332–340. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Lee J, Wong S and Boles RG: Mutation in
the X-linked RAB40AL gene (Martin-Probst syndrome) with mental
retardation, sensorineural hearing loss, and anomalies of the
craniofacies and genitourinary tract: A second case report. Eur J
Pediatr. 173:967–969. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Mandey SH, Schneiders MS, Koster J and
Waterham HR: Mutational spectrum and genotype-phenotype
correlations in mevalonate kinase deficiency. Hum Mutat.
27:796–802. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Marcuzzi A, Pontillo A, De Leo L,
Tommasini A, Decorti G, Not T and Ventura A: Natural isoprenoids
are able to reduce inflammation in a mouse model of mevalonate
kinase deficiency. Pediatr Res. 64:177–182. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Ołdak M, Ścieżyńska A, Młynarski W,
Borowiec M, Ruszkowska E, Szulborski K, Pollak A, Kosińska J,
Mueller-Malesińska M, Stawiński P, et al: Evidence against RAB40AL
being the locus for Martin-Probst X-linked deafness-intellectual
disability syndrome. Hum Mutat. 35:1171–1174. 2014. View Article : Google Scholar
|
|
18
|
Kalscheuer V, Iqbal Z, Hu H, et al:
RAB40AL loss-of-function mutation does not cause X-linked
intellectual disability. J Med Genet: Reply to reference.
1:2013.
|
|
19
|
Allen RC, Zoghbi HY, Moseley AB,
Rosenblatt HM and Belmont JW: Methylation of HpaII and HhaI sites
near the polymorphic CAG repeat in the human androgen-receptor gene
correlates with X chromosome inactivation. Am J Hum Genet.
51:1229–1239. 1992.PubMed/NCBI
|
|
20
|
Wolf SF, Jolly DJ, Lunnen KD, Friedmann T
and Migeon BR: Methylation of the hypoxanthine
phosphoribosyltrans-ferase locus on the human X chromosome:
Implications for X-chromosome inactivation. Proc Natl Acad Sci USA.
81:2806–2810. 1984. View Article : Google Scholar
|
