Publications
Export 3 results:
Author Title [ Year
] Filters: Author is Lalani, Seema R and Keyword is Sequence Analysis, DNA [Clear All Filters]
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet 93, 197-210 (2013).
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet 95, 579-83 (2014).
Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med 9, 26 (2017).
