Publikationen von S. A. Haas
Alle Typen
Zeitschriftenartikel (50)
21.
Zeitschriftenartikel
97 (2), S. 302 - 310 (2015)
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. The American Journal of Human Genetics 22.
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 23.
Zeitschriftenartikel
161 (5), S. 1012 - 1025 (2015)
Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions. Cell 24.
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 25.
Zeitschriftenartikel
36 (1), S. 106 - 117 (2015)
Variants in CUL4B are Associated with Cerebral Malformations. Human Mutation 26.
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 27.
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 28.
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 29.
Zeitschriftenartikel
4 (4), S. 415 - 422 (2014)
CD74-NRG1 Fusions in Lung Adenocarcinoma. Cancer Discovery 30.
Zeitschriftenartikel
5, 5:3518 (2014)
Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids. Nature Communications 31.
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 32.
Zeitschriftenartikel
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 33.
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 34.
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) 35.
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) 36.
Zeitschriftenartikel
44 (10), S. 1104 - 1110 (2012)
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nature Genetics 37.
Zeitschriftenartikel
91 (4), S. 694 - 702 (2012)
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. The American Journal of Human Genetics 38.
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 39.
Zeitschriftenartikel
28 (5), S. 619 - 27 (2012)
Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS. Bioinformatics 40.
Zeitschriftenartikel
28 (7), S. 1024 - 1025 (2012)
Breakpointer: using local mapping artifacts to support sequence breakpoint discovery from single-end reads. Bioinformatics