Publications
Export 2 results:
Author Title [ Year
] Filters: Author is Karolak, Justyna A and Keyword is High-Throughput Nucleotide Sequencing [Clear All Filters]
Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing. Eur J Hum Genet 25, 73-78 (2016).
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. Genet Med 22, 1768-1776 (2020).
