Publications
Export 2 results:
Filters: Author is Jhangiani, Shalini N and Keyword is Genomic Structural Variation [Clear All Filters]
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 ;185(12):3593-3600.
. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 ;176(6):1310-1324.e10.
.