The American Journal of Human Genetics · 2008 · 142 citations · 21 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsPediatric GeneticsDevelopmental MutationsGenetic DisordersGenetic SyndromesIntellectual Disability GeneticsNeurodevelopmental DisordersNeurodevelopmental GeneticsAutosomal Recessive InheritanceNeurodevelopmental Disorder Mutations
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Global variation in copy number in the human genome
Richard Redon, Shumpei Ishikawa, Karen Fitch et al. · Nature · 2006 · 4.4K citations · Full text
Merlin—rapid analysis of dense genetic maps using sparse gene flow trees
Gonçalo R. Abecasis, Stacey S. Cherny, William Cookson et al. · Nature Genetics · 2001 · 3.4K citations
Towards a proteome-scale map of the human protein–protein interaction network
Jean‐François Rual, K. Venkatesan, Tong Hao et al. · Nature · 2005 · 3K citations