Maria Delio Kunjan Patel Alex Maslov Robert W Marion Thomas V McDonald Evan M Cadoff Aaron Golden John M Greally Jan Vijg Bernice Morrow Cristina Montagna
10.1371/journal.pone.0133742
PLoS One
2015 Jul 27;10(7):e0133742.
CC BY
https://pubmed.ncbi.nlm.nih.gov/26214305/
Genetic Diseases, Inborn / genetics Genome-Wide Association Study High-Throughput Nucleotide Sequencing Mutation Polymorphism, Single Nucleotide
Genetic Diseases, Inborn / genetics Genome-Wide Association Study High-Throughput Nucleotide Sequencing Mutation Polymorphism, Single Nucleotide Case Reports Research Support, Non-U.S. Gov't Adult Female Humans Male
PMC4516357
26214305
Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants
2015