Francesco L M Vallania
Overview
Explore the profile of Francesco L M Vallania including associated specialties, affiliations and a list of published articles.
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5
Citations
350
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Recent Articles
1.
Ramos E, Levinson B, Chasnoff S, Hughes A, Young A, Thornton K, et al.
BMC Genomics
. 2012 Dec;
13:683.
PMID: 23216810
Background: Rare genetic variation in the human population is a major source of pathophysiological variability and has been implicated in a host of complex phenotypes and diseases. Finding disease-related genes...
2.
Cruchaga C, Haller G, Chakraverty S, Mayo K, Vallania F, Mitra R, et al.
PLoS One
. 2012 Feb;
7(2):e31039.
PMID: 22312439
Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these genes has been performed in either...
3.
Vallania F, Druley T, Ramos E, Wang J, Borecki I, Province M, et al.
Genome Res
. 2010 Nov;
20(12):1711-8.
PMID: 21041413
Pooled-DNA sequencing strategies enable fast, accurate, and cost-effect detection of rare variants, but current approaches are not able to accurately identify short insertions and deletions (indels), despite their pivotal role...
4.
Matkovich S, Van Booven D, Hindes A, Kang M, Druley T, Vallania F, et al.
J Clin Invest
. 2009 Dec;
120(1):280-9.
PMID: 20038796
Sporadic heart failure is thought to have a genetic component, but the contributing genetic events are poorly defined. Here, we used ultra-high-throughput resequencing of pooled DNAs to identify SNPs in...
5.
Druley T, Vallania F, Wegner D, Varley K, Knowles O, Bonds J, et al.
Nat Methods
. 2009 Mar;
6(4):263-5.
PMID: 19252504
We report a targeted, cost-effective method to quantify rare single-nucleotide polymorphisms from pooled human genomic DNA using second-generation sequencing. We pooled DNA from 1,111 individuals and targeted four genes to...