Comprehensive genomic profiles of small cell lung cancer

J George, JS Lim, SJ Jang, Y Cun, L Ozretić, G Kong… - Nature, 2015 - nature.com
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 …

[PDF][PDF] Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

DG Lupiáñez, K Kraft, V Heinrich, P Krawitz, F Brancati… - Cell, 2015 - cell.com
Mammalian genomes are organized into megabase-scale topologically associated domains
(TADs). We demonstrate that disruption of TADs can rewire long-range regulatory …

Genome-Wide RNAi Analysis of Growth and Viability in Drosophila Cells

M Boutros, AA Kiger, S Armknecht, K Kerr, M Hild… - Science, 2004 - science.org
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 …

[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 …

[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 …

[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 …

[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 …

CD74–NRG1 Fusions in Lung Adenocarcinoma

L Fernandez-Cuesta, D Plenker, H Osada, R Sun… - Cancer discovery, 2014 - AACR
We discovered a novel somatic gene fusion, CD74–NRG1, by transcriptome sequencing of
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 …

[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 …