Publications
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. Hum Genet. 2018 ;137(6-7):553-567.
. Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet. 2021 ;58(1):41-47.
. Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders. NPJ Genom Med. 2022 ;7(1):11.
. Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. Mol Genet Genomic Med. 2020 ;8(1):e1023.
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