User profiles for Donna Muzny

donna muzny

Baylor College of Med
Verified email at bcm.edu
Cited by 238184

The Genome Sequence of Drosophila melanogaster

…, SM Mount, M Moy, B Murphy, L Murphy, DM Muzny… - Science, 2000 - science.org
The fly Drosophila melanogaster is one of the most intensively studied organisms in biology
and serves as a model system for the investigation of many developmental and cellular …

Somatic mutations affect key pathways in lung adenocarcinoma

…, K Cibulskis, C Sougnez, H Greulich, DM Muzny… - Nature, 2008 - nature.com
Determining the genetic basis of cancer requires comprehensive analyses of large collections
of histopathologically well-classified primary tumours. Here we report the results of a …

A global reference for human genetic variation

…, Y Han, V Korchina, C Kovar, S Lee, D Muzny… - Nature, 2015 - cdr.lib.unc.edu
The 1000 Genomes Project set out to provide a comprehensive description of common human
genetic variation by applying whole-genome sequencing to a diverse set of individuals …

[PDF][PDF] Comprehensive and integrative genomic characterization of hepatocellular carcinoma

…, S Meier, M Lawrence, J Kim, CJ Creighton, D Muzny… - Cell, 2017 - cell.com
Liver cancer has the second highest worldwide cancer mortality rate and has limited
therapeutic options. We analyzed 363 hepatocellular carcinoma (HCC) cases by whole-exome …

[HTML][HTML] The complete genome of an individual by massively parallel DNA sequencing

…, X Song, Y Liu, Y Yuan, L Nazareth, X Qin, DM Muzny… - nature, 2008 - nature.com
The association of genetic variation with disease and drug response, and improvements in
nucleic acid technologies, have given great optimism for the impact of ‘genomic medicine’. …

[PDF][PDF] The genome of the model beetle and pest Tribolium castaneum.

…, S Roth, R Schröder, D Tautz, EM Zdobnov, D Muzny… - Nature, 2008 - serval.unil.ch
Tribolium castaneum is a member of the most species-rich eukaryotic order, a powerful model
organism for the study of generalized insect development, and an important pest of stored …

[HTML][HTML] An integrated map of structural variation in 2,504 human genomes

…, G Marth, CE Mason, A Menelaou, DM Muzny… - Nature, 2015 - nature.com
Structural variants are implicated in numerous diseases and make up the majority of varying
nucleotides among human genomes. Here we describe an integrated set of eight structural …

[HTML][HTML] Clinical whole-exome sequencing for the diagnosis of mendelian disorders

Y Yang, DM Muzny, JG Reid… - … England Journal of …, 2013 - Mass Medical Soc
Background Whole-exome sequencing is a diagnostic approach for the identification of
molecular defects in patients with suspected genetic disorders. Methods We developed technical…

Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in NOTCH1

…, JN Weinstein, L Treviño, JA Drummond, DM Muzny… - Science, 2011 - science.org
Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer
worldwide. To explore the genetic origins of this cancer, we used whole-exome sequencing and …

[HTML][HTML] The Drosophila melanogaster Genetic Reference Panel

…, RF Lyman, AJ Mackey, M Munidasa, DM Muzny… - Nature, 2012 - nature.com
A major challenge of biology is understanding the relationship between molecular genetic
variation and variation in quantitative traits, including fitness. This relationship determines our …