Mutations in NOTCH1 Cause Adams-Oliver Syndrome

MUSCLE: multiple sequence alignment with high accuracy and high throughput

R. C. Edgar · Nucleic Acids Research · 2004 · 45.3K citations · Full text

Genetics, Molecular Biology, Genomics +17

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

Pablo Cingolani, Adrian E. Platts, Le Lily Wang et al. · Fly · 2012 · 12.1K citations · Full text

Genetics, Genetic Epidemiology, Human Polymorphism +24

An integrated map of genetic variation from 1,092 human genomes

Nature · 2012 · 8.1K citations · Full text

Haplotype Determination, Human Variation, Integrated Map +9

The Protein Data Bank

Helen M. Berman, Tammy Battistuz, Talapady N. Bhat et al. · Acta Crystallographica Section D Biological Crystallography · 2002 · 2.6K citations

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

Anne Joutel, Christophe Corpechot, Anne Ducros et al. · Nature · 1996 · 2K citations

Neurobiology Of Disease, Notch3 Mutations, Mendelian Disorder +8