Comprehensive genomic profiles of small cell lung cancer
We have sequenced the genomes of 110 small cell lung cancers (SCLC), one of the
deadliest human cancers. In nearly all the tumours analysed we found bi-allelic inactivation …
deadliest human cancers. In nearly all the tumours analysed we found bi-allelic inactivation …
[PDF][PDF] Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions
Mammalian genomes are organized into megabase-scale topologically associated domains
(TADs). We demonstrate that disruption of TADs can rewire long-range regulatory …
(TADs). We demonstrate that disruption of TADs can rewire long-range regulatory …
Genome-Wide RNAi Analysis of Growth and Viability in Drosophila Cells
A crucial aim upon completion of whole genome sequences is the functional analysis of all
predicted genes. We have applied a high-throughput RNA-interference (RNAi) screen of …
predicted genes. We have applied a high-throughput RNA-interference (RNAi) screen of …
[HTML][HTML] X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud… - Molecular …, 2016 - nature.com
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder.
During the past two decades in excess of 100 X-chromosome ID genes have been …
During the past two decades in excess of 100 X-chromosome ID genes have been …
[HTML][HTML] Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors
J George, V Walter, M Peifer, LB Alexandrov… - Nature …, 2018 - nature.com
Pulmonary large-cell neuroendocrine carcinomas (LCNECs) have similarities with other
lung cancers, but their precise relationship has remained unclear. Here we perform a …
lung cancers, but their precise relationship has remained unclear. Here we perform a …
[HTML][HTML] Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids
L Fernandez-Cuesta, M Peifer, X Lu, R Sun… - Nature …, 2014 - nature.com
Pulmonary carcinoids are rare neuroendocrine tumours of the lung. The molecular
alterations underlying the pathogenesis of these tumours have not been systematically …
alterations underlying the pathogenesis of these tumours have not been systematically …
[PDF][PDF] Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling
LS Blok, E Madsen, J Juusola, C Gilissen… - The American Journal of …, 2015 - cell.com
Intellectual disability (ID) affects approximately 1%–3% of humans with a gender bias toward
males. Previous studies have identified mutations in more than 100 genes on the X …
males. Previous studies have identified mutations in more than 100 genes on the X …
CD74–NRG1 Fusions in Lung Adenocarcinoma
We discovered a novel somatic gene fusion, CD74–NRG1, by transcriptome sequencing of
25 lung adenocarcinomas of never smokers. By screening 102 lung adenocarcinomas …
25 lung adenocarcinomas of never smokers. By screening 102 lung adenocarcinomas …
Intronic CA‐repeat and CA‐rich elements: a new class of regulators of mammalian alternative splicing
J Hui, LH Hung, M Heiner, S Schreiner… - The EMBO …, 2005 - embopress.org
We have recently identified an intronic polymorphic CA‐repeat region in the human
endothelial nitric oxide synthase (eNOS) gene as an important determinant of the splicing …
endothelial nitric oxide synthase (eNOS) gene as an important determinant of the splicing …
[PDF][PDF] Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology
GR Wilson, JCH Sim, C McLean… - The American Journal of …, 2014 - cell.com
Advances in understanding the etiology of Parkinson disease have been driven by the
identification of causative mutations in families. Genetic analysis of an Australian family with …
identification of causative mutations in families. Genetic analysis of an Australian family with …