Publications
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Filters: Author is Stankiewicz, Pawel and Keyword is Genome, Human [Clear All Filters]
Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015 ;16(1):286.
. Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development. Hum Mutat. 2017 ;38(6):669-677.
. Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn. 2020 ;20(10):995-1002.
. Predicting human genes susceptible to genomic instability associated with /-mediated rearrangements. Genome Res. 2018 ;28(8):1228-1242.
. Somatic mosaicism: implications for disease and transmission genetics. Trends Genet. 2015 ;31(7):382-92.
. Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing. Eur J Hum Genet. 2017 ;25(1):73-78.
. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 ;362(13):1181-91.
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