Genetic high throughput screening in Retinitis Pigmentosa based on high resolution melting (HRM) analysis

Initial sequencing and analysis of the human genome

Eric S. Lander, Lauren Linton, Bruce W. Birren et al. · Nature · 2001 · 24.6K citations · Full text

Life Sciences, Genetics, Human Development +10

The Sequence of the Human Genome

J. Craig Venter, Mark D. Adams, Eugene W. Myers et al. · Science · 2001 · 13.7K citations

Life Sciences, Genetics, Molecular Genetics +11

Performance comparison of benchtop high-throughput sequencing platforms

Nicholas J. Loman, Raju Misra, Timothy J. Dallman et al. · Nature Biotechnology · 2012 · 1.4K citations

Life Sciences, Bioinformatics, Genomics +11

Retinitis Pigmentosa: Genes and Disease Mechanisms

Francesco Parmeggiani, Francesco Saverio Sorrentino, Diego Ponzin et al. · Current Genomics · 2011 · 656 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

Kirk Mykytyn, Darryl Nishimura, Charles Searby et al. · Nature Genetics · 2002 · 354 citations

Life Sciences, Genetics, Molecular Genetics +13