Methods in molecular biology · 2011 · 13 citations · 118 references
Life SciencesGeneticsMolecular GeneticsGenomicsHuman GeneticsMedical GeneticsClinical GenomicsGenetic DisordersGenetic SyndromesGenome SequencingGenome-wide Association StudiesTranslational GenomicsDiagnostic GenomicsGenomic DisordersInherited Disease Diagnosis
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Initial sequencing and analysis of the human genome
Eric S. Lander, Lauren Linton, Bruce W. Birren et al. · Nature · 2001 · 24.6K citations · Full text
Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
Mihael H. Polymeropoulos, Christian Lavedan, Elisabeth Leroy et al. · Science · 1997 · 8.2K citations
α-Synuclein Locus Triplication Causes Parkinson's Disease
Andrew Singleton, Matthew J. Farrer, Janel Johnson et al. · Science · 2003 · 4.4K citations
Global variation in copy number in the human genome
Richard Redon, Shumpei Ishikawa, Karen Fitch et al. · Nature · 2006 · 4.4K citations · Full text
Detection of large-scale variation in the human genome
A. John Iafrate, Lars Feuk, Miguel N. Rivera et al. · Nature Genetics · 2004 · 2.9K citations