Publications
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Filters: Author is Lupski, James R and Keyword is Sequence Analysis, DNA [Clear All Filters]
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 ;95(5):579-83.
. Replicative mechanisms for CNV formation are error prone. Nat Genet. 2013 ;45(11):1319-26.
. Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. JAMA. 2013 ;310(4):365-6.
. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 ;93(2):197-210.
. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat. 2011 ;32(12):1450-9.
. Whole-genome sequencing for optimized patient management. Sci Transl Med. 2011 ;3(87):87re3.
. Personal genome research : what should the participant be told?. Trends Genet. 2010 ;26(5):199-201.
. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 ;362(13):1181-91.
. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 ;452(7189):872-6.
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