Fowzan Sami Alkuraya

This study identifies biallelic UQCC1 variants as a cause of early-onset mitochondrial disease by impairing complex III assembly and function.

This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.

The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.

The paper introduces LUCID-org, a method for 3D imaging and analysis of human brain organoids, revealing cytoarchitectural defects in CENPJ-mutated microcephaly organoids.

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 investigates why the 9p21.3 CAD risk locus fails to replicate in African ancestry cohorts, finding ancestry-specific LD and haplotype diversity explain the lack of association.

The paper identifies a female-specific neurodevelopmental disorder caused by biallelic CIZ1 loss-of-function variants, which disrupt X-chromosome inactivation maintenance.

This study shows that tRNA thiolation defects in humans cause proteostasis and tissue homeostasis issues, but mice with similar defects develop normally.

The paper identifies SPOUT1/CENP-32 as a causative gene for SpADMiSS, linking its dysfunction to mitotic spindle defects and neurodevelopmental disorders.

This study identifies NUBP2 deficiency as a cause of primary microcephaly by showing its role in centrosome and cilia regulation during neurogenesis.

The paper identifies C12ORF57 as a key regulator of synaptic AMPA currents and excitatory neuronal homeostasis, showing its role in synaptic homeostatic downscaling and its disruption in Temtamy syndrome.

The paper identifies bi-allelic WDR47 variants as a cause of a neurodevelopmental syndrome with corpus callosum dysgenesis and associated neuroanatomical abnormalities.

The paper identifies biallelic RCC1 variants causing an acute axonal neuropathy triggered by infection, with mechanistic overlap with ALS and GBS.

This study identifies FBXO22 deficiency as a cause of a pleiotropic syndrome with growth restriction and neurodevelopmental delay, linked to an epigenetic signature involving histone demethylase KDM4B.

NanoRanger identifies disease-causing breakpoints in genomic disorders with single base-pair resolution, enabling accurate diagnosis and carrier status determination.

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

The paper identifies how reduced ribosome levels in neural progenitor cells contribute to neurodevelopmental disorders and shows that mTOR activation can alleviate these defects.

This paper standardizes terminology for describing disease-gene relationships to improve variant classification and genetic test interpretation.

The paper identifies homozygous loss of function variants in ZNF808 as a cause of pancreatic agenesis in humans, showing its role in repressing transposable elements during pancreatic development.

The paper investigates the association between autozygosity and common diseases in multiple cohorts, finding significant links to twelve diseases and estimating autozygosity's contribution to type 2 diabetes cases.

This study surveys healthcare professionals in the Middle East to understand challenges and perspectives on genetic counseling and testing, finding cultural and resource-related barriers and positive patient attitudes.

PhenoScore quantifies phenotypic similarity using AI and HPO data to improve genetic variant interpretation and genotype-phenotype studies.

The paper describes the formation of the Gene Curation Coalition to standardize gene-disease validity terminology and create a unified database for curated gene-disease assertions.

The paper describes the clinical, neuroimaging, and molecular features of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability, providing variant interpretation guidelines and carrier frequency estimates.

This study identifies a JBTS-associated protein module involving ARMC9 and TOGARAM1 that regulates ciliary stability and post-translational modifications.

This study identifies a missense variant in TRMT1 causing intellectual disability by disrupting tRNA m2,2G modification.

The paper introduces omega, an RNA-seq quantification method that improves detection of transcriptional aberrations and reduces disease-gene search space using Mendelian disease cases.