Associated Papers
EXOSC3 G191 Variants Trigger System-Wide Recalibration of RNA Processing Machinery.
Wijeratne HRS et al.
Biorxiv : the Preprint Server for Biology, 2026
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 2025
Necrotizing Enterocolitis Due to Mesenteric Artery Thrombosis in a Patient with Craniofrontonasal Dysplasia: Casual or Causal Association?
Serra G et al.
Journal of Clinical Medicine, 2025
Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data.
Gaviria-Sabogal CC et al.
Human Molecular Genetics, 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.
Rna (new York, N.y.), 2025
EXOSC3 S1-domain variants implicated in PCH1b alter RNA exosome cap subunit abundance and thermal stability disrupting rRNA processing and targeting of AU-rich mRNA.
Runnebohm AM et al.
Biorxiv : the Preprint Server for Biology, 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
Potent antiviral activity of simnotrelvir against key epidemic SARS-CoV-2 variants with a high resistance barrier.
Zhao L et al.
Antimicrobial Agents and Chemotherapy, 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
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Malfatti E et al.
Clinical Genetics, 2025
PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine.
Alfayyadh MM et al.
Clinical Genetics, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cavusoglu D et al.
Cerebellum (london, England), 2024
Mutations in Genes Encoding Subunits of the RNA Exosome as a Potential Novel Cause of Thrombotic Microangiopathy.
Wijnsma KL et al.
International Journal of Molecular Sciences, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia.
Raslan IR et al.
Neurology. Genetics, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Fehlings DL et al.
Nature Genetics, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.
Ghasemi MR et al.
Bmc Medical Genomics, 2024
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V et al.
Blood, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S et al.
Nature Medicine, 2023
No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B.
Ibrahim I et al.
Clinical Case Reports, 2023
Homozygous EXOSC3 c.395A>C Variants in Pontocerebellar Hypoplasia Type 1B: A Sibling Pair With Childhood Lethal Presentation and Literature Review.
Szeto CH et al.
Cureus, 2023
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands.
Mortensen Ó et al.
European Journal of Human Genetics : Ejhg, 2023
Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control.
Stansfield BN et al.
Stem Cell Research, 2022
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Martínez-Rubio D et al.
International Journal of Molecular Sciences, 2022
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review.
Spyridakis AC et al.
Cureus, 2022
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
Nuovo S et al.
Journal of Medical Genetics, 2022
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021