Associated Papers
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Study of sex-biased differences in genomic profiles in East Asian hepatocellular carcinoma.
Huang CY et al.
Discover Oncology, 2024
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Averdunk L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
De novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic RECQL4 variants.
Jiang C et al.
Blood Science (baltimore, Md.), 2023
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Somatic and germline analysis of a familial Rothmund-Thomson syndrome in two siblings with osteosarcoma.
Gutiérrez-Jimeno M et al.
Npj Genomic Medicine, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
Maciaszek JL et al.
Cold Spring Harbor Molecular Case Studies, 2019
Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.
Gui B et al.
Gene, 2018
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.
Colombo EA et al.
European Journal of Human Genetics : Ejhg, 2014
A patient with Baller-Gerold syndrome and midline NK/T lymphoma.
Debeljak M et al.
American Journal of Medical Genetics. Part A, 2009
Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene.
Zhang X et al.
Anais Brasileiros De Dermatologia, 0
Sporadic form of epidermolysis bullosa simplex with mottled pigmentation.
Ferreira FR et al.
Anais Brasileiros De Dermatologia, 0