David R. Murdock

Whole-Genome Sequencing for Optimized Patient Management

Matthew N. Bainbridge, Wojciech Wiszniewski, David R. Murdock et al. · Science Translational Medicine · 2011 · 301 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

David R. Murdock, Hongzheng Dai, Lindsay C. Burrage et al. · Journal of Clinical Investigation · 2020 · 188 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

Hana Zouk, Eric Venner, Niall J. Lennon et al. · The American Journal of Human Genetics · 2019 · 115 citations · Full text

Life Sciences, Bioinformatics, Biomedical Informatics +14

Dominant-negative mutations in human <i>IL6ST</i> underlie hyper-IgE syndrome

Vivien Béziat, Simon J. Tavernier, Yin‐Huai Chen et al. · The Journal of Experimental Medicine · 2020 · 113 citations · Full text

Life Sciences, Genetics, Immunology +15

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Elena‐Raluca Nicoli, Mary Weston, Mary E. Hackbarth et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Life Sciences, Biochemistry, Cell Biology +12