Slavica Trajkova

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews et al. · Cell Reports · 2022 · 51 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Syndromic Autism +10

Missense variant contribution to USP9X-female syndrome

Lachlan A. Jolly, Euan Parnell, Alison Gardner et al. · npj Genomic Medicine · 2020 · 36 citations · Full text

Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

Jack Fu, F. Kyle Satterstrom, Minshi Peng et al. · 2021 · 35 citations · Full text

Neurogenomics, Genetics, Risk Genes +23

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes

Chiara Giovenino, Slavica Trajkova, Lisa Pavinato et al. · European Journal of Human Genetics · 2023 · 20 citations · Full text

Developmental Biology, Mendelian Disorder, Cytogenetics +11

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder

Kathleen Rooney, Liselot van der Laan, Slavica Trajkova et al. · Genetics in Medicine · 2023 · 20 citations · Full text

Neurodevelopmental Disorders, Epigenetic Change, Genetics +12