Associated Papers
Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.
Siegert S et al.
Pediatric Neurology, 2024
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V et al.
Journal of Medical Genetics, 2022
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
Guerrini-Rousseau L et al.
Journal of Medical Genetics, 2022
35768194 (PubMed )
Supplement: jmedgenet-2021-108385supp005.pdf
The transcriptional landscape of Shh medulloblastoma.
Skowron P et al.
Nature Communications, 2021
33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Schröder S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.
Wang Y et al.
Frontiers in Oncology, 2019
30886832 (PubMed )
Supplement: Table_2.xls › Table_2
Widespread Chromosomal Losses and Mitochondrial DNA Alterations as Genetic Drivers in Hürthle Cell Carcinoma.
Gopal RK et al.
Cancer Cell, 2018
Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.
Waszak SM et al.
The Lancet. Oncology, 2018
29753700 (PubMed )
Supplement: mmc1.pdf
Select a paper to view details