Finding the missing heritability of complex diseases
2009 · Nature · 8,468 citations
https://doi.org/10.1038/nature08494
D
David Valle
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David Valle is an academic researcher from Icahn School of Medicine at Mount Sinai. The author has contributed to research in topics: Metabolism and Genetic Disorders & Peroxisome Proliferator-Activated Receptors & Genomics and Rare Diseases. The author has an h-index of 78, co-authored 274 publications.
ORCID: 0000-0002-6560-4281Papers by this author
worksThe International HapMap Project
2003 · Nature · 6,157 citations
https://doi.org/10.1038/nature02168
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
2015 · Human Mutation · 1,538 citations
https://doi.org/10.1002/humu.22844
Guidelines for investigating causality of sequence variants in human disease
2014 · Nature · 1,262 citations
https://doi.org/10.1038/nature13127
PEX11β Deficiency Is Lethal and Impairs Neuronal Migration but Does Not Abrogate Peroxisome Function
2002 · Molecular and Cellular Biology · 164 citations
https://doi.org/10.1128/mcb.22.12.4358-4365.2002
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans
2007 · Proceedings of the National Academy of Sciences · 124 citations
https://doi.org/10.1073/pnas.0708699104
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