Publications
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Filters: Author is Lupski, James R and Keyword is Genome, Human [Clear All Filters]
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 ;135(5):569-586.
. Personal genome research : what should the participant be told?. Trends Genet. 2010 ;26(5):199-201.
. 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 for optimized patient management. Sci Transl Med. 2011 ;3(87):87re3.
. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 ;362(13):1181-91.
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