Lessons learnt from large-scale exon re-sequencing of the X chromosome

scientific article published on April 2009

Lessons learnt from large-scale exon re-sequencing of the X chromosome is …
instance of (P31):
scholarly articleQ13442814
review articleQ7318358

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P356DOI10.1093/HMG/DDP071
P8608Fatcat IDrelease_crlshb7e4vf7zfa66lj4kihr5y
P932PMC publication ID2657946
P698PubMed publication ID19297402
P5875ResearchGate publication ID24211344

P50authorJozef GéczQ16230617
Michael StrattonQ6834656
Annabel WhibleyQ55692044
P2093author name stringF Lucy Raymond
P2860cites workEmergence of young human genes after a burst of retroposition in primatesQ21092789
The complete genome of an individual by massively parallel DNA sequencingQ22122226
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2Q22337290
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardationQ24309324
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationQ24612060
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationQ24613870
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmusQ24651919
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardationQ24671723
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephalyQ24678235
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitusQ24682652
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 tremorQ28284058
Amino acid difference formula to help explain protein evolutionQ29614440
Chromosomal gene movements reflect the recent origin and biology of therian sex chromosomesQ33326727
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.Q33910551
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationQ33998564
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndromeQ34044794
Nonsyndromic X-linked mental retardation: where are the missing mutations?Q34205119
Extensive gene traffic on the mammalian X chromosomeQ34291898
Evolutionary fate of retroposed gene copies in the human genomeQ34480366
Whole-genome re-sequencingQ34571951
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardationQ34581217
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentQ34591768
Scoring residue conservationQ34733455
Medical sequencing at the extremes of human body massQ35752505
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humansQ36156859
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationQ36718273
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndromeQ36718915
Genetic research on rare familial disorders: consent and the blurred boundaries between clinical service and researchQ37256147
Epstein-Barr virus promotes genomic instability in Burkitt's lymphomaQ40165999
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.Q40232805
Hypothesis: a novel route for immortalization of epithelial cells by Epstein-Barr virusQ40750248
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellumQ41938326
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 geneQ43232391
AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes.Q51915522
P275copyright licenseCreative Commons Attribution-NonCommercialQ6936496
P433issueR1
P921main subjectcellQ7868
biomedical investigative techniqueQ66648976
P304page(s)R60-4
P577publication date2009-04-01
2009-04-15
P1433published inHuman Molecular GeneticsQ2720965
P1476titleLessons learnt from large-scale exon re-sequencing of the X chromosome
P478volume18

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cites work (P2860)
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Q33960544Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
Q35049670Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability
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Q37861644Zebrafish as a genomics model for human neurological and polygenic disorders