Wissenschaftliche Publikationen
Zeitschriftenartikel (103)
1.
Zeitschriftenartikel
24 (25), S. 7171 - 7181 (2015)
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. Human Molecular Genetics 2.
Zeitschriftenartikel
34 (24), S. 3042 - 3058 (2015)
Molecular architecture of the ribosome-bound Hepatitis C Virus internal ribosomal entry site RNA. EMBO Journal 3.
Zeitschriftenartikel
2, 150068 (2015)
Multi-omic profiles of human non-alcoholic fatty liver disease tissue highlight heterogenic phenotypes. Scientific Data 4.
Zeitschriftenartikel
97 (6), S. 922 - 932 (2015)
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. The American Journal of Human Genetics 5.
Zeitschriftenartikel
36 (12), S. 1176 - 1187 (2015)
Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1. Human Mutation 6.
Zeitschriftenartikel
58 (12), S. 715 - 718 (2015)
Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders. European Journal of Medical Genetics 7.
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 8.
Zeitschriftenartikel
16, S. 1018 - 1018 (2015)
Erratum. BMC Genomics 9.
Zeitschriftenartikel
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. Journal of Medical Genetics, 103468 (2015)
10.
Zeitschriftenartikel
9, 9:84 (2015)
Reconstruction of gene networks using prior knowledge. BMC Systems Biology 11.
Zeitschriftenartikel
16, 16:925 (2015)
Combined ultra-low input mRNA and whole-genome sequencing of human embryonic stem cells. BMC Genomics 12.
Zeitschriftenartikel
16, S. 904 (2015)
The direction of cross affects [corrected] obesity after puberty in male but not female offspring. BMC Genomics 13.
Zeitschriftenartikel
18 (6), S. 366 - 371 (2015)
Virtual Clinical Trials, an Essential Step in Increasing the Effectiveness of the Drug Development Process. Public Health Genomics 14.
Zeitschriftenartikel
15 (7), fov073 (2015)
A link between Sas2-mediated H4 K16 acetylation, chromatin assembly in S-phase by CAF-I and Asf1, and nucleosome assembly by Spt6 during transcription. FEMS Yeast Research 15.
Zeitschriftenartikel
2015, 5634 (2015)
Allele frequencies of BRAFV600 mutations in primary melanomas and matched metastases and their relevance for BRAF inhibitor therapy in metastatic melanoma. Oncotarget 16.
Zeitschriftenartikel
24 (20), S. 5697 - 5710 (2015)
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. Human Molecular Genetics 17.
Zeitschriftenartikel
23 (10), S. 1308 - 1317 (2015)
Redefining the MED13L syndrome. European journal of human genetics 18.
Zeitschriftenartikel
135 (10), S. 2368 - 2376 (2015)
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting. The Journal of Investigative Dermatology: an International Journal for Research in Cutaneous Biology 19.
Zeitschriftenartikel
23 (10), S. 1378 - 1383 (2015)
Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait. European journal of human genetics 20.
Zeitschriftenartikel
60 (1), S. 146 - 162 (2015)
High-Affinity Sites Form an Interaction Network to Facilitate Spreading of the MSL Complex across the X Chromosome in Drosophila. Molecular Cell