The American Journal of Human Genetics · 2017 · 71 citations · 27 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsGenetic DisordersGenetic SyndromesMuscle DisordersMuscle PathologyMuscular DystrophyMuscular Dystrophy GeneticsMuscular Dystrophy PathophysiologyMyofibrillar Myopathy
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Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text
The zebrafish reference genome sequence and its relationship to the human genome
Kerstin Howe, Matthew D. Clark, Carlos Torroja et al. · Nature · 2013 · 5.1K citations · Full text
Life Sciences, Biology, Genetics +17
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
Nara Sobreira, François Schiettecatte, David Valle et al. · Human Mutation · 2015 · 1.6K citations · Full text
Gateways to the FANTOM5 promoter level mammalian expression atlas
Marina Lizio, Jayson Harshbarger, Hisashi Shimoji et al. · Genome Biology · 2015 · 945 citations · Full text