Mustafa Şahin

This study surveys non-genetics departments to assess genetic counselor availability, utilization, and perceived need for neurodevelopmental disorder patients, finding limited integration but high interest in expanding genetic counseling support.

This study shows that restoring the ALDH5A1 gene in a mouse model of SSADHD reverses hyperactivity and reduces GHB levels, improving survival.

The paper introduces an open-source pipeline for calcium imaging and all-optical physiology in human stem cell-derived neurons, validated for disease modeling and therapeutic screening.

This study compares neuronal activity and gene expression in CDD patient-derived neurons from two differentiation methods, finding early hyperexcitability in organoid-derived neurons but not induced neurons.

The paper compares neurobehavioral profiles of Smith-Kingsmore Syndrome and PTEN Hamartoma Tumor Syndrome, identifying distinct features and diagnostic markers.

The paper uses a CRISPR/Cas9 screen to identify genes modulating ATG9A trafficking in a neuronal model of AP-4 deficiency, revealing ANPEP and NPM1 as key regulators.

This study shows that TSC2 mutant cells exhibit early neurodevelopmental abnormalities and DNA methylation changes, suggesting early gene regulation disruption in TSC.

This paper reviews US professional society guidelines for genetic testing in neurodevelopmental disorders and highlights the need for unified, updated, and accessible cross-specialty guidelines.

This study shows that AKT-mediated phosphorylation of TSC2 regulates tissue-specific mTORC1 signaling and organ growth in mice.

This study uses patient-derived neurovascular units to show that TSC2 mutations impair BBB function, which can be rescued by wild-type astrocytes or rapamycin treatment.

This study identifies molecular differences between PMS patients with small and large deletions, showing reduced cytotoxic cell signatures and sphingolipid metabolism in large deletions.

The paper identifies shared proteomic and metabolic ontologies in Rett syndrome across species and validates them as potential biomarkers.

The paper identifies a recurrent SHANK3 frameshift variant in Autism Spectrum Disorder, showing de novo mutations and variable expressivity.

The paper investigates transcriptional and translational changes in Tsc1-deficient cerebellar Purkinje cells, finding reduced FMRP target transcripts with increased degradation and decreased SHANK2 levels in synapses.

This study characterizes human cerebrovascular cells in health and disease, identifying cell type-specific markers and revealing immune activation and BBB integrity loss in Huntington's disease.

The paper uses EEG to identify early functional brain differences in infants with tuberous sclerosis complex (TSC) that predict later autism spectrum disorder (ASD) development.