User profiles for D. Muzny
donna muznyBaylor College of Med Verified email at bcm.edu Cited by 238281 |
The Genome Sequence of Drosophila melanogaster
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 …
and serves as a model system for the investigation of many developmental and cellular …
[PDF][PDF] The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities
Discovering the genetic basis of a Mendelian phenotype establishes a causal link between
genotype and phenotype, making possible carrier and population screening and direct …
genotype and phenotype, making possible carrier and population screening and direct …
Insights into genetics, human biology and disease gleaned from family based genomic studies
… (d) MyGene2 is a database through which patients and families can directly share their
genomic data. Matchbox is an open-source tool through which institutions or groups with …
genomic data. Matchbox is an open-source tool through which institutions or groups with …
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 …
of histopathologically well-classified primary tumours. Here we report the results of a …
The genome of the social amoeba Dictyostelium discoideum
The social amoebae are exceptional in their ability to alternate between unicellular and
multicellular forms. Here we describe the genome of the best-studied member of this group, …
multicellular forms. Here we describe the genome of the best-studied member of this group, …
[PDF][PDF] Comprehensive and integrative genomic characterization of hepatocellular carcinoma
…, D Muzny, HV Doddapaneni, J Hu, M Wang, D Morton… - 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 …
therapeutic options. We analyzed 363 hepatocellular carcinoma (HCC) cases by whole-exome …
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Autism spectrum disorders (ASD) are believed to have genetic and environmental origins,
yet in only a modest fraction of individuals can specific causes be identified 1 , 2 . To identify …
yet in only a modest fraction of individuals can specific causes be identified 1 , 2 . To identify …
[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
… Here we report the DNA sequence of a diploid genome of a single individual, James D.
Watson, sequenced to 7.4-fold redundancy in two months using massively parallel sequencing …
Watson, sequenced to 7.4-fold redundancy in two months using massively parallel sequencing …
[PDF][PDF] The genome of the model beetle and pest Tribolium castaneum.
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 …
organism for the study of generalized insect development, and an important pest of stored …
Evolutionary and biomedical insights from the rhesus macaque genome
…, S Lee, LR Lewis, Z Li, Y Liu, SM Moore, D Muzny… - science, 2007 - science.org
The rhesus macaque (Macaca mulatta) is an abundant primate species that diverged from
the ancestors of Homo sapiens about 25 million years ago. Because they are genetically and …
the ancestors of Homo sapiens about 25 million years ago. Because they are genetically and …