A novel CRISPR/Cas9-based workflow in Xenopus tropicalis to test the pathogenicity of human missense variants implicated in inherited blindness
Functional genomics of Alzheimer disease: Characterization of the risk effect of progranulin missense mutations.
Development of an in vivo functional assay to determine the pathogenicity of variants in breast cancer genes
MOLECULAR DIAGNOSTICS IN AUTISM SPECTRUM DISORDER: NEXT GENERATION SEQUENCING AND FACIAL PHENOTYPING IN MEDICAL GENETICS
Using human iPSC-derived models to investigate the divergent pathomechanisms underlying biglycan-related Meester-Loeys syndrome and X-linked spondyloepimetaphyseal dysplasia.
Sequencing of DISC1 pathway genes reveals increased burden of rare missense variants in schizophrenia patients from a Northern Swedish population
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423
ENIGMA CHEK2gether Project : a comprehensive study identifies functionally impaired CHEK2 germline missense variants associated with increased breast cancer risk
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
A Bayesian approach to estimate the probability of resistance to bedaquiline in the presence of a genomic variant