M. Marra

Publications526
h-index106
Citations96,114
Highly Influential Citations3,535
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Initial sequencing and analysis of the human genome.
The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and… Expand
  • 16,634
  • 473
Integrative analysis of 111 reference human epigenomes
The reference human genome sequence set the stage for studies of genetic variation and its association with human disease, but epigenomic studies lack a similar reference. To address this need, the… Expand
  • 3,633
  • 246
  • PDF
Integrated genomic characterization of endometrial carcinoma
  • D. Levine, Gad Stacey B. Kristian Eric Andrey Carrie Mike Cyriac Getz Gabriel Cibulskis Lander Sivachenko Sougnez L, +271 authors H. Sofia
  • Biology, Medicine
  • Nature
  • 1 May 2013
We performed an integrated genomic, transcriptomic and proteomic characterization of 373 endometrial carcinomas using array- and sequencing-based technologies. Uterine serous tumours and ∼25% of… Expand
  • 2,349
  • 167
  • PDF
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.
BACKGROUND Many mutations that contribute to the pathogenesis of acute myeloid leukemia (AML) are undefined. The relationships between patterns of mutations and epigenetic phenotypes are not yet… Expand
  • 2,769
  • 122
  • PDF
The Genome Sequence of the SARS-Associated Coronavirus
We sequenced the 29,751-base genome of the severe acute respiratory syndrome (SARS)–associated coronavirus known as the Tor2 isolate. The genome sequence reveals that this coronavirus is only… Expand
  • 1,719
  • 83
  • PDF
Comprehensive Molecular Characterization of Human Colon and Rectal Cancer
To characterize somatic alterations in colorectal carcinoma, we conducted a genome-scale analysis of 276 samples, analysing exome sequence, DNA copy number, promoter methylation and messenger RNA and… Expand
  • 4,116
  • 82
  • PDF
The Genome Sequence of Caenorhabditis briggsae: A Platform for Comparative Genomics
The soil nematodes Caenorhabditis briggsae and Caenorhabditis elegans diverged from a common ancestor roughly 100 million years ago and yet are almost indistinguishable by eye. They have the same… Expand
  • 931
  • 78
  • PDF
Frequent mutation of histone modifying genes in non-Hodgkin lymphoma
Follicular lymphoma (FL) and diffuse large B-cell lymphoma (DLBCL) are the two most common non-Hodgkin lymphomas (NHLs). Here we sequenced tumour and matched normal DNA from 13 DLBCL cases and one FL… Expand
  • 1,219
  • 73
  • PDF
The clonal and mutational evolution spectrum of primary triple-negative breast cancers
Primary triple-negative breast cancers (TNBCs), a tumour type defined by lack of oestrogen receptor, progesterone receptor and ERBB2 gene amplification, represent approximately 16% of all breast… Expand
  • 1,510
  • 70
The ENCODE (ENCyclopedia Of DNA Elements) Project
The ENCyclopedia Of DNA Elements (ENCODE) Project aims to identify all functional elements in the human genome sequence. The pilot phase of the Project is focused on a specified 30 megabases (∼1%) of… Expand
  • 1,872
  • 62