Associated Papers
Comparative analyses of disease-linked missense mutations in the RNA exosome modeled in budding yeast reveal distinct functional consequences in translation.
Sterrett MC et al.
Rna (new York, N.y.), 2025
Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies.
Škarica M et al.
Genes, 2025
Humanized Saccharomyces cerevisiae provides a facile and effective tool to identify damaging human variants that cause exosomopathies.
Ahammed KS et al.
G3 (bethesda, Md.), 2025
Comparative analyses of disease-linked missense mutations in the RNA exosome modeled in budding yeast reveal distinct functional consequences in translation.
Sterrett MC et al.
Biorxiv : the Preprint Server for Biology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Al-Kasbi G et al.
Scientific Reports, 2022
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review.
Dabaj I et al.
Journal of Clinical Medicine, 2022
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Olkinuora AP et al.
Frontiers in Oncology, 2022
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.
Sakamoto M et al.
Journal of Human Genetics, 2021
RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels.
Müller JS et al.
Life Science Alliance, 2020
Expanded PCH1D phenotype linked to EXOSC9 mutation.
Bizzari S et al.
European Journal of Medical Genetics, 2020
The RNA Exosome and Human Disease.
Fasken MB et al.
Methods in Molecular Biology (clifton, N.j.), 2020
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
Al-Nabhani M et al.
Clinical Genetics, 2018
Nuclear mRNA Surveillance Mechanisms: Function and Links to Human Disease.
Singh P et al.
Journal of Molecular Biology, 2018
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Burns DT et al.
American Journal of Human Genetics, 2018