Publications
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Filters: Keyword is Genetic Variation and Author is Katsanis, Nicholas [Clear All Filters]
A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 ;105(5):974-986.
. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep. 2015 ;12(7):1169-83.
. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 ;43(3):189-96.
. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet. 2009 ;41(6):739-45.
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