Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and stroke.
Winzig F et al.
The Journal of Infectious Diseases, 2025
p53 inhibitor or antioxidants reduce the severity of ethmoid plate deformities in zebrafish Type 3 Treacher Collins syndrome model.
Ulhaq ZS et al.
International Journal of Biological Macromolecules, 2024
A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome.
Yin B et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2024
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome 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
Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.
Ching-López A et al.
International Journal of Molecular Sciences, 2021
Cryo-EM structures of human RNA polymerase III in its unbound and transcribing states.
Girbig M et al.
Nature Structural & Molecular Biology, 2021
Structure of human RNA polymerase III.
Ramsay EP et al.
Nature Communications, 2020
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.
Gauquelin L et al.
Neurology. Genetics, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.
Ghesh L et al.
American Journal of Medical Genetics. Part A, 2019
Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation.
Matsumoto N et al.
Biochemical and Biophysical Research Communications, 2018
Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity.
Walker-Kopp N et al.
Human Molecular Genetics, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Thiffault I et al.
Nature Communications, 2015
Two extraordinarily severe cases of Treacher Collins syndrome.
Bauer M et al.
American Journal of Medical Genetics. Part A, 2013