Samuel P Strom

Author PubWeight™ 9.26‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Interactions between commensal fungi and the C-type lectin receptor Dectin-1 influence colitis. Science 2012 5.34
2 Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet 2014 1.25
3 Disease gene characterization through large-scale co-expression analysis. PLoS One 2009 1.15
4 De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. BMC Med Genet 2014 0.98
5 Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy. BMC Med Genet 2014 0.78