Donna M Muzny

发表

Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel

Alexander Fedotov, Simon White, Eric Boerwinkle, 2018, Genetics in Medicine.

Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development

Yoshiyuki Sakaki, Sumio Sugano, Anthony T Papenfuss, 2011, Genome Biology.

Functional and Evolutionary Insights from the Genomes of Three Parasitoid Nasonia Species

Erich Bornberg-Bauer, Peer Bork, Alexandre Souvorov, 2010, Science.

Unique features of a global human ectoparasite identified through sequencing of the bed bug genome

Klaus Reinhardt, Christian Wegener, Christian Derst, 2016, Nature Communications.

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

Inês Barroso, Jiyoung Heo, Beverley Balkau, 2015, Nature communications.

Strategies to Design and Analyze Targeted Sequencing Data: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study

Eric Boerwinkle, Mayetri Gupta, Thomas Lumley, 2014, Circulation. Cardiovascular genetics.

Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication

Chris Sander, Nikolaus Schultz, Kyle R Covington, 2014, Genome research.

The genomes of two key bumblebee species with primitive eusocial organization

Erich Bornberg-Bauer, Lars Chittka, Marco Mariotti, 2015, Genome Biology.

Loss-of-function variants influence the human serum metabolome

Eric Boerwinkle, Alexander Hanbo Li, Richard A Gibbs, 2016, Science Advances.

Genome-Wide Survey of SNP Variation Uncovers the Genetic Structure of Cattle Breeds

Robert D Schnabel, Keyan Zhao, Paolo Ajmone-Marsan, 2009, Science.

Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study

Eric Boerwinkle, Richard A Gibbs, Paul S de Vries, 2017, Human molecular genetics.

Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia

Jing Ma, Xiaotu Ma, Jinghui Zhang, 2015, Nature Communications.

Mouse let-7 miRNA populations exhibit RNA editing that is constrained in the 5'-seed/ cleavage/anchor regions and stabilize predicted mmu-let-7a:mRNA duplexes.

Martin M Matzuk, Michael T. McManus, Chad A Shaw, 2008, Genome research.

Next-generation sequencing identifies rare variants associated with Noonan syndrome

John D McPherson, Richard A Gibbs, Lincoln D. Stein, 2014, Proceedings of the National Academy of Sciences.

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

Tao Wang, Katie Bergstrom, Amy L McGuire, 2016, JAMA oncology.

Trans-ancestry mutational landscape of hepatocellular carcinoma genomes

Hiromi Nakamura, Hidenori Ojima, Yasushi Totoki, 2014, Nature Genetics.

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

Gunnar Houge, Stefan Johansson, Martin S. Taylor, 2014, American journal of human genetics.

Comparative genome sequencing of Drosophila pseudoobscura: chromosomal, gene, and cis-element evolution.

Inna Dubchak, Paul Havlak, Madeline A Crosby, 2005, Genome research.

PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations

Eric Boerwinkle, Christian Buhay, Fuli Yu, 2015, BMC Genomics.

Genetic diversity in India and the inference of Eurasian population expansion

Michael J Bamshad, Jinchuan Xing, Fuli Yu, 2010, Genome Biology.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

Fan Xia, Pengfei Liu, Xiaoyan Ge, 2017, JAMA pediatrics.

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

Richard A Gibbs, Ali Mentes, Donna M Muzny, 2017, American journal of human genetics.