Kelly Clark

Feb 4, 2024 | biorxiv.org | Kelly Clark |Emily E. Lubin |Elizabeth Gonzalez |Annabel K. Sangree

AbstractWhole exome and genome sequencing, coupled with refined bioinformatic pipelines, have enabled improved diagnostic yields for individuals with Mendelian conditions and have led to the rapid identification of novel syndromes. For many Mendelian neurodevelopmental disorders (NDDs), there is a lack of pre-existing model systems for mechanistic work. Thus, it is critical for translational researchers to have an accessible phenotype- and genotype-informed approach for model system selection.