
Publications of W. Chen
All genres
Journal Article (39)
1.
Journal Article
21 (1), pp. 133 - 148 (2016)
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry 2.
Journal Article
22 (4), pp. 480 - 485 (2014)
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy. European journal of human genetics 3.
Journal Article
5 (9), pp. 1431 - 1442 (2013)
Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation. EMBO Molecular Medicine 4.
Journal Article
5 (2), p. 5:11 - 5:11 (2013)
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Medicine 5.
Journal Article
89 (3), pp. 407 - 14 (2011)
ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet 6.
Journal Article
19 (6), pp. 717 - 20 (2011)
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. Eur J Hum Genet 7.
Journal Article
19 (1), pp. 115 - 7 (2011)
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. Eur J Hum Genet 8.
Journal Article
478 (7367), pp. 57 - 63 (2011)
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 9.
Journal Article
19, pp. 115 - 117 (2010)
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. European Journal of Human Genetics 10.
Journal Article
328 (5979), pp. 753 - 756 (2010)
Altered Histone Acetylation Is Associated with Age-Dependent Memory Impairment in Mice. Science 11.
Journal Article
42A (1), pp. 39 - 51 (2010)
Genomic Analysis of miRNAs in an Extreme Mammalian Hibernator, the Arctic Ground Squirrel. Physiological Genomics 12.
Journal Article
11, p. e275 - e275 (2010)
Deciphering the porcine intestinal microRNA transcriptome. BMC Genomics 13.
Journal Article
3 (1-4), p. 83 - 83 (2010)
Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. The Hugo Journal 14.
Journal Article
18 (6), pp. 1200 - 1209 (2010)
Comparative Analysis of Transposable Element Vector Systems in Human Cells. Molecular Therapy: the Journal of the American Society of Gene Therapy 15.
Journal Article
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. European Journal of Human Genetics (2010)
16.
Journal Article
6, pp. 745 - 751 (2009)
Large-scale sorting of C. elegans embryos reveals the dynamics of small RNA expression. Nature Methods 17.
Journal Article
10, p. 413 - 413 (2009)
Sequence features associated with microRNA strand selection in humans and flies. BMC Genomics 18.
Journal Article
10, p. 161 - 161 (2009)
Estimating accuracy of RNA-Seq and microarrays with proteomics. BMC Genomics 19.
Journal Article
32 (4), pp. 519 - 528 (2008)
A human snoRNA with microRNA-like functions. Molecular Cell 20.
Journal Article
11, pp. 705 - 709 (2008)
High frequency of submicroscopic genomic aberrations detected by tiling path array CGH in patients with isolated congenital heart disease. Journal of Medical Genetics