Associated Papers
Structure-Guided Synthetic Peptide Targeting Nucleolus and Neural Progenitor Protein Nuclear Import Impairs Ribosome Biogenesis and Cancer Cell Proliferation.
Kumar A et al.
Chembiochem : a European Journal of Chemical Biology, 2026
RNase MRP subunit composition and role in 40S ribosome biogenesis.
Smith EM et al.
Nature Structural & Molecular Biology, 2026
Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.
Remmelzwaal PC et al.
American Journal of Medical Genetics. Part A, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.
Narayanan DL et al.
American Journal of Medical Genetics. Part A, 2019
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Increasing the sensitivity of clinical exome sequencing through improved filtration strategy.
Shamseldin HE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016