Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 60.7K citations · Full text

BEDTools: a flexible suite of utilities for comparing genomic features

Aaron R. Quinlan, Ira M. Hall · Bioinformatics · 2010 · 28.9K citations · Full text

RefSeq: an update on mammalian reference sequences

Kim D. Pruitt, Garth Brown, Susan M. Hiatt et al. · Nucleic Acids Research · 2013 · 996 citations · Full text

Genetics, Molecular Biology, Genomics +17

Retinitis Pigmentosa: Genes and Disease Mechanisms

Francesco Parmeggiani, Francesco Saverio Sorrentino, Diego Ponzin et al. · Current Genomics · 2011 · 631 citations · Full text

Ocular Disease, Retina, Photoreceptor Cell +11

Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families

Lori S. Sullivan, Sara J. Bowne, David G. Birch et al. · Investigative Ophthalmology & Visual Science · 2006 · 286 citations · Full text