Genetic basis of neurodevelopmental disorders in 103 Jordanian familiesTawfiq Froukh, Rebecca Buchert, Aya Baraghiti et al.|Clinical Genetics|2020Cited by 30
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancyChristina Rapp, Matthias Griese, Ine Van Dijck et al.|Clinical Genetics|2021Cited by 24
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson’s disease to perinatal lethality and disrupt mitochondrial functionFrancesca Magrinelli, Güneş Kızıltan, Christelle Tesson et al.|medRxiv|2024Cited by 6