The American Journal of Human Genetics · 2014 · 190 citations · 39 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsDevelopmental MutationsGenetic DisordersGenetic SyndromesNotch SignalingMutations In Notch Signaling PathwayNotch Signaling Disruption
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MUSCLE: multiple sequence alignment with high accuracy and high throughput
R. C. Edgar · Nucleic Acids Research · 2004 · 46.5K citations · Full text
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 · 12.7K citations · Full text
An integrated map of genetic variation from 1,092 human genomes
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 · 2.1K citations
Life Sciences, Genetics, Neurology +14