Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

Shaun Purcell, Benjamin M. Neale, Katherine EO Todd-Brown et al. · The American Journal of Human Genetics · 2007 · 34.9K citations · Full text

Genome-wide Association Study, Whole-genome Association, Linkage Disequilibrium +12

Primer3Plus, an enhanced web interface to Primer3

Andreas Untergasser, Harm Nijveen, Xiancai Rao et al. · Nucleic Acids Research · 2007 · 2.8K citations · Full text

Engineering, Genetics, Enhanced Web Interface +27

ISCEV Standard for full-field clinical electroretinography (2008 update)

Michael F. Marmor, Anne B. Fulton, Graham E. Holder et al. · Documenta Ophthalmologica · 2008 · 1K citations · Full text

Electrophysiological Evaluation, Medicine, Medical Technology +7

Homozygosity Mapping: A Way to Map Human Recessive Traits with the DNA of Inbred Children

Eric S. Lander, David Botstein · Science · 1987 · 884 citations

Genetic Testing, Genetics, Linkage Analysis +16

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Edgar A. Otto, Bart Loeys, Hemant Khanna et al. · Nature Genetics · 2005 · 401 citations

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +6