Publikationsliste
Zeitschriftenartikel (48)
1.
Zeitschriftenartikel
140 (11), S. 2879 - 2894 (2017)
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain 2.
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2017 (3), S. 696 - 703 (2017)
Haplotype-resolved sweet potato genome traces back its hexaploidization history. Nature Plants 3.
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38 (4), S. 409 - 425 (2017)
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. Human Mutation 4.
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27 (2), S. 223 - 233 (2017)
Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding. Genome Research 5.
Zeitschriftenartikel
13 (1), e1006567 (2017)
Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF. PLoS Genetics 6.
Zeitschriftenartikel
8, 8:85 (2016)
Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. Frontiers in Molecular Neuroscience 7.
Zeitschriftenartikel
170 (1), S. 94 - 102 (2016)
Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities? American Journal of Medical Genetics Part A 8.
Zeitschriftenartikel
21 (1), S. 133 - 148 (2016)
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry 9.
Zeitschriftenartikel
89 (1), S. 120 - 127 (2016)
New insights into Brunner syndrome and potential for targeted therapy. Clinical Genetics: an international journal of genetics in medicine 10.
Zeitschriftenartikel
11 (2), e0147904 (2016)
Analysis of Genes Involved in Body Weight Regulation by Targeted Re-Sequencing. PLoS One 11.
Zeitschriftenartikel
24 (25), S. 7171 - 7181 (2015)
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. Human Molecular Genetics 12.
Zeitschriftenartikel
36 (12), S. 1155 - 1158 (2015)
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia. Human Mutation 13.
Zeitschriftenartikel
524 (7563), S. 47 - 53 (2015)
Comprehensive genomic profiles of small cell lung cancer. Nature 14.
Zeitschriftenartikel
97 (2), S. 302 - 310 (2015)
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. The American Journal of Human Genetics 15.
Zeitschriftenartikel
97 (2), S. 343 - 352 (2015)
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. The American Journal of Human Genetics 16.
Zeitschriftenartikel
161 (5), S. 1012 - 1025 (2015)
Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions. Cell 17.
Zeitschriftenartikel
16, 16:7 (2015)
Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data. Genome Biology: Biology for the Post-Genomic Era 18.
Zeitschriftenartikel
36 (1), S. 106 - 117 (2015)
Variants in CUL4B are Associated with Cerebral Malformations. Human Mutation 19.
Zeitschriftenartikel
95 (6), S. 729 - 735 (2014)
Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with alpha-Synuclein Pathology. The American Journal of Human Genetics 20.
Zeitschriftenartikel
30 (17), S. 2456 - 2463 (2014)
Inferring the paths of somatic evolution in cancer. Bioinformatics