Zeitschriftenartikel (48)
21.
Zeitschriftenartikel
51 (7), S. 487 - 494 (2014)
Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. Journal of Medical Genetics 22.
Zeitschriftenartikel
9, 9:49 (2014)
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. Orphanet Journal of Rare Diseases 23.
Zeitschriftenartikel
4 (4), S. 415 - 422 (2014)
CD74-NRG1 Fusions in Lung Adenocarcinoma. Cancer Discovery 24.
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5, 5:3518 (2014)
Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids. Nature Communications 25.
Zeitschriftenartikel
161A (12), S. 3063 - 3071 (2013)
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. American Journal of Medical Genetics Part A 26.
Zeitschriftenartikel
133 (9), S. 2123 - 2132 (2013)
Synthetic sickness or lethality points at candidate combination therapy targets in glioblastoma. International Journal of Cancer 27.
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22 (16), S. 3306 - 3314 (2013)
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. Human Molecular Genetics 28.
Zeitschriftenartikel
92 (5), S. 681 - 695 (2013)
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. The American Journal of Human Genetics 29.
Zeitschriftenartikel
41 (6), S. 3518 - 3531 (2013)
Genome-wide analysis of LXRalpha activation reveals new transcriptional networks in human atherosclerotic foam cells. Nucleic Acids Research (London) 30.
Zeitschriftenartikel
41 (6), S. 3518 - 3531 (2013)
Genome-wide analysis of LXRα activation reveals new transcriptional networks in human atherosclerotic foam cells. Nucleic Acids Research (London) 31.
Zeitschriftenartikel
44 (10), S. 1104 - 1110 (2012)
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nature Genetics 32.
Zeitschriftenartikel
91 (4), S. 694 - 702 (2012)
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. The American Journal of Human Genetics 33.
Zeitschriftenartikel
90 (1), S. 61 - 8 (2012)
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. The American Journal of Human Genetics 34.
Zeitschriftenartikel
28 (5), S. 619 - 27 (2012)
Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS. Bioinformatics 35.
Zeitschriftenartikel
28 (7), S. 1024 - 1025 (2012)
Breakpointer: using local mapping artifacts to support sequence breakpoint discovery from single-end reads. Bioinformatics 36.
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473 (2), S. 139 - 49 (2011)
Genome-wide comparison of cyanobacterial transposable elements, potential genetic diversity indicators. Gene 37.
Zeitschriftenartikel
10 (1) (2011)
Modeling read counts for CNV detection in exome sequencing data. Statistical Applications in Genetics and Molecular Biology 38.
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478 (7367), S. 57 - 63 (2011)
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 39.
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450 (1-2), S. 48 - 54 (2010)
Screening of human gene promoter activities using transfected-cell arrays. Gene 40.
Zeitschriftenartikel
26 (1), S. 123 - 124 (2010)
MicroRazerS: rapid alignment of small RNA reads. Bioinformatics