
Publikationen von W. Chen
Alle Typen
Zeitschriftenartikel (39)
1.
Zeitschriftenartikel
21 (1), S. 133 - 148 (2016)
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry 2.
Zeitschriftenartikel
22 (4), S. 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.
Zeitschriftenartikel
5 (9), S. 1431 - 1442 (2013)
Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation. EMBO Molecular Medicine 4.
Zeitschriftenartikel
5 (2), S. 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.
Zeitschriftenartikel
89 (3), S. 407 - 14 (2011)
ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet 6.
Zeitschriftenartikel
19 (6), S. 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.
Zeitschriftenartikel
19 (1), S. 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.
Zeitschriftenartikel
478 (7367), S. 57 - 63 (2011)
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 9.
Zeitschriftenartikel
19, S. 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.
Zeitschriftenartikel
328 (5979), S. 753 - 756 (2010)
Altered Histone Acetylation Is Associated with Age-Dependent Memory Impairment in Mice. Science 11.
Zeitschriftenartikel
42A (1), S. 39 - 51 (2010)
Genomic Analysis of miRNAs in an Extreme Mammalian Hibernator, the Arctic Ground Squirrel. Physiological Genomics 12.
Zeitschriftenartikel
11, S. e275 - e275 (2010)
Deciphering the porcine intestinal microRNA transcriptome. BMC Genomics 13.
Zeitschriftenartikel
3 (1-4), S. 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.
Zeitschriftenartikel
18 (6), S. 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.
Zeitschriftenartikel
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. European Journal of Human Genetics (2010)
16.
Zeitschriftenartikel
6, S. 745 - 751 (2009)
Large-scale sorting of C. elegans embryos reveals the dynamics of small RNA expression. Nature Methods 17.
Zeitschriftenartikel
10, S. 413 - 413 (2009)
Sequence features associated with microRNA strand selection in humans and flies. BMC Genomics 18.
Zeitschriftenartikel
10, S. 161 - 161 (2009)
Estimating accuracy of RNA-Seq and microarrays with proteomics. BMC Genomics 19.
Zeitschriftenartikel
32 (4), S. 519 - 528 (2008)
A human snoRNA with microRNA-like functions. Molecular Cell 20.
Zeitschriftenartikel
11, S. 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