Journal Article (123)
41.
Journal Article
34 (5), pp. 838 - 844 (2013)
Familial aggregation of pure tone hearing thresholds in an aging European population. Otology & neurotology: official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 42.
Journal Article
56 (7), pp. 379 - 382 (2013)
HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability. European Journal of Medical Genetics 43.
Journal Article
12 (7), pp. 1965 - 1979 (2013)
Protein sets define disease states and predict in vivo effects of drug treatment. Molecular and Cellular Proteomics 44.
Journal Article
30 (7), pp. 1700 - 1712 (2013)
Twisted signatures of GC-biased gene conversion embedded in an evolutionary stable karyotype. Molecular Biology and Evolution 45.
Journal Article
50 (6), pp. 844 - 855 (2013)
Genome-wide Kinase-Chromatin Interactions Reveal the Regulatory Network of ERK Signaling in Human Embryonic Stem Cells. Molecular Cell 46.
Journal Article
50 (6), pp. 831 - 843 (2013)
Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. Molecular Cell 47.
Journal Article
8 (6), p. e65403 - e65403 (2013)
Synergism between Hedgehog-GLI and EGFR Signaling in Hedgehog-Responsive Human Medulloblastoma Cells Induces Downregulation of Canonical Hedgehog-Target Genes and Stabilized Expression of GLI1. PLoS One 48.
Journal Article
4, p. 4:124 - 4:124 (2013)
Integrative analysis of cancer-related signaling pathways. Frontiers in Physiology 49.
Journal Article
10 (6), p. e1001462 - e1001462 (2013)
Serum Iron Levels and the Risk of Parkinson Disease: A Mendelian Randomization Study. PLoS Medicine 50.
Journal Article
52 (22), pp. 3899 - 3912 (2013)
Ubiquilin-1 Modulates gamma-Secretase-Mediated epsilon-Site Cleavage in Neuronal Cells. Biochemistry 51.
Journal Article
161A (6), pp. 1207 - 1213 (2013)
A newly recognized autosomal recessive syndrome affecting neurologic function and vision. American Journal of Medical Genetics Part A 52.
Journal Article
25 (20), pp. 2765 - 71 (2013)
Current methods for inducing pluripotency in somatic cells. Advanced Materials 53.
Journal Article
30 (4), pp. 362 - 365 (2013)
IT Future of Medicine: from molecular analysis to clinical diagnosis and improved treatment. New Biotechnology 54.
Journal Article
52 (19), pp. 5171 - 5174 (2013)
Discovery and Characterization of Protein-Modifying Natural Products by MALDI Mass Spectrometry Reveal Potent SIRT1 and p300 Inhibitors. Angewandte Chemie International Edition 55.
Journal Article
92 (5), pp. 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 56.
Journal Article
23 (5), pp. 749 - 761 (2013)
The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Research 57.
Journal Article
52 (5), pp. 512 - 522 (2013)
Breakpoint characterization of the der(19)t(11;19)(q13;p13) in the ovarian cancer cell line SKOV-3. Genes, Chromosomes and Cancer 58.
Journal Article
83 (5), pp. 488 - 490 (2013)
Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations. Clinical Genetics: an international journal of genetics in medicine 59.
Journal Article
123 (5), pp. 2244 - 2256 (2013)
CCDC22 deficiency in humans blunts activation of proinflammatory NF-kappaB signaling. The Journal of Clinical Investigation 60.
Journal Article
4, p. 4:54 - 4:54 (2013)
Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders. Frontiers in Genetics