Publikationen von S. A. Haas
Alle Typen
Zeitschriftenartikel (52)
21.
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 22.
Zeitschriftenartikel
524 (7563), S. 47 - 53 (2015)
Comprehensive genomic profiles of small cell lung cancer. Nature 23.
Zeitschriftenartikel
97 (2), S. 302 - 310 (2015)
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. The American Journal of Human Genetics 24.
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 25.
Zeitschriftenartikel
161 (5), S. 1012 - 1025 (2015)
Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions. Cell 26.
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 27.
Zeitschriftenartikel
36 (1), S. 106 - 117 (2015)
Variants in CUL4B are Associated with Cerebral Malformations. Human Mutation 28.
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 29.
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 30.
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 31.
Zeitschriftenartikel
4 (4), S. 415 - 422 (2014)
CD74-NRG1 Fusions in Lung Adenocarcinoma. Cancer Discovery 32.
Zeitschriftenartikel
5, 5:3518 (2014)
Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids. Nature Communications 33.
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 34.
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 35.
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 36.
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) 37.
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) 38.
Zeitschriftenartikel
44 (10), S. 1104 - 1110 (2012)
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nature Genetics 39.
Zeitschriftenartikel
91 (4), S. 694 - 702 (2012)
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. The American Journal of Human Genetics 40.
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