Maha Saad Zaki

The paper reports new TUBB2B variants in multiple families, expanding the clinical and molecular spectrum of tubulinopathies and highlighting phenotypic heterogeneity and dual molecular diagnoses.

This study identifies homozygous loss-of-function MDGA2 variants in individuals with developmental and epileptic encephalopathy, establishing MDGA2 as a novel gene for this condition.

The paper presents a brain organoid atlas of 352 patient-derived iPSCs from neurodevelopmental disorders, showing disease-specific cellular defects in organoids.

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

The paper identifies mitochondrial DNA variants in undiagnosed rare disease families using exome and genome sequencing data, leading to diagnoses in 0.4% of cases.

The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.

The paper establishes a humanized neuronal model to investigate the effects of manganese dysregulation on neuronal function and disease mechanisms.

This study identifies RSS as a recyclinopathy caused by dysfunction in the Commander endosomal recycling pathway, linking it to multiple tissue malformations.

The paper identifies biallelic FLVCR1 variants causing a range of neurodevelopmental and neurodegenerative disorders, linking them to choline and ethanolamine transport dysfunction.

This study evaluates genome sequencing's diagnostic yield in a cohort of undiagnosed rare disease patients, finding it solves 29.3% of cases with specific variant types not detectable by exome sequencing.

This study identifies biallelic loss-of-function variants in WBP4 as a cause of a neurodevelopmental syndrome with variable manifestations.

This study identifies biallelic PNPLA8 variants causing microcephaly by reducing basal radial glia in cerebral organoids and disrupting phospholipid metabolism.

The paper identifies bi-allelic CHKA variants causing a neurodevelopmental disorder with epilepsy and microcephaly through functional analysis in yeast.

The paper identifies C2orf69 deficiency as a cause of a fatal auto-inflammatory syndrome in humans and zebrafish, affecting mitochondrial function and immune/cNS development.

This study identifies MINPP1 mutations as a cause of Pontocerebellar Hypoplasia, showing that MINPP1 deficiency leads to IP6 accumulation and cation chelation, disrupting brain development.