Tam P. Sneddon

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

Christopher J. Ward, Marie C. Hogan, Sandro Rossetti et al. · Nature Genetics · 2002 · 763 citations

Medicine, Genetics, Molecular Genetics +14

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan et al. · The American Journal of Human Genetics · 2017 · 564 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Long-read genome sequencing identifies causal structural variation in a Mendelian disease

Jason D. Merker, Aaron M. Wenger, Tam P. Sneddon et al. · Genetics in Medicine · 2017 · 275 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The HGNC Database in 2008: a resource for the human genome

Elspeth A. Bruford, Michael Lush, Matt W. Wright et al. · Nucleic Acids Research · 2007 · 234 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

The human gamma-glutamyltransferase gene family

Nora Heisterkamp, John Groffen, David Warburton et al. · Human Genetics · 2008 · 155 citations

Life Sciences, Genetics, Molecular Genetics +6