Adam P. DeLuca

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease

Edwin M. Stone, Jeaneen L. Andorf, S. Scott Whitmore et al. · Ophthalmology · 2017 · 447 citations · Full text

Consecutive Families, Molecular Investigation, Retina +9

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

A. Eliot Shearer, Adam P. DeLuca, Michael S. Hildebrand et al. · Proceedings of the National Academy of Sciences · 2010 · 335 citations · Full text

Genetic Testing, Genetics, Pathology +25

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene <i>male germ cell-associated kinase</i> ( <i>MAK</i> ) as a cause of retinitis pigmentosa

Budd A. Tucker, Todd E. Scheetz, Robert F. Mullins et al. · Proceedings of the National Academy of Sciences · 2011 · 207 citations · Full text

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

Terry A. Braun, Robert F. Mullins, Alex H. Wagner et al. · Human Molecular Genetics · 2013 · 180 citations · Full text