User profiles for M. Imielinski

Marcin Imielinski

Weill Cornell Medicine, New York Genome Center
Verified email at med.cornell.edu
Cited by 58012

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications

…, EA Geiger, C Haldeman-Englert, M Imielinski… - Genome …, 2009 - genome.cshlp.org
We present a database of copy number variations (CNVs) detected in 2026 disease-free
individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, …

Signatures of mutational processes in human cancer

…, F Hosoda, B Hutter, T Ilicic, S Imbeaud, M Imielinski… - Nature, 2013 - nature.com
All cancers are caused by somatic mutations; however, understanding of the biological
processes generating these mutations is limited. The catalogue of somatic mutations from a …

Mutational heterogeneity in cancer and the search for new cancer-associated genes

…, L Lichtenstein, DI Heiman, T Fennell, M Imielinski… - Nature, 2013 - nature.com
Major international projects are underway that are aimed at creating a comprehensive catalogue
of all the genes responsible for the initiation and progression of cancer 1 , 2 , 3 , 4 , 5 , 6 …

[HTML][HTML] A landscape of driver mutations in melanoma

E Hodis, IR Watson, GV Kryukov, ST Arold, M Imielinski… - Cell, 2012 - cell.com
Despite recent insights into melanoma genetics, systematic surveys for driver mutations are
challenged by an abundance of passenger mutations caused by carcinogenic UV light …

Next-generation characterization of the cancer cell line encyclopedia

…, A Kauffmann, N Stransky, M Imielinski… - Nature, 2019 - nature.com
Large panels of comprehensively characterized human cancer models, including the Cancer
Cell Line Encyclopedia (CCLE), have provided a rigorous framework with which to study …

[HTML][HTML] Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing

M Imielinski, AH Berger, PS Hammerman… - Cell, 2012 - cell.com
Lung adenocarcinoma, the most common subtype of non-small cell lung cancer, is responsible
for more than 500,000 deaths per year worldwide. Here, we report exome and genome …

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

…, KD Taylor, JC Lee, P Goyette, M Imielinski… - Nature …, 2011 - nature.com
Genome-wide association studies and candidate gene studies in ulcerative colitis have
identified 18 susceptibility loci. We conducted a meta-analysis of six ulcerative colitis genome-…

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

…, A Estes, CW Brune, JP Bradfield, M Imielinski… - Nature, 2009 - nature.com
Autism spectrum disorders (ASDs) are childhood neurodevelopmental disorders with complex
genetic origins 1 , 2 , 3 , 4 . Previous studies focusing on candidate genes or genomic …

Common genetic variants on 5p14. 1 associate with autism spectrum disorders

…, JT Glessner, BS Abrahams, D Salyakina, M Imielinski… - Nature, 2009 - nature.com
Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental and
neuropsychiatric disorders characterized by deficits in verbal communication, impairment of …

Distinct patterns of somatic genome alterations in lung adenocarcinomas and squamous cell carcinomas

…, M Imielinski, X Hu, S Ling, R Akbani, M Rosenberg… - Nature …, 2016 - nature.com
To compare lung adenocarcinoma (ADC) and lung squamous cell carcinoma (SqCC) and to
identify new drivers of lung carcinogenesis, we examined the exome sequences and copy …