Associated Papers
Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.
Umeda M et al.
Blood, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.
Umeda M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme.
Sosinsky A et al.
Nature Medicine, 2024
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.
Kage H et al.
Cancer Science, 2023
Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review.
Valverde de Morales HG et al.
American Journal of Medical Genetics. Part A, 2023
An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes.
Price E et al.
Frontiers in Molecular Neuroscience, 2023
Expanding the mutational and clinical spectrum of Chinese intellectual disability patients with two novel CTCF variants.
Tan B et al.
Frontiers in Pediatrics, 2023
CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.
Zhou R et al.
Iscience, 2022
Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.
Jahn N et al.
Leukemia, 2022
Genetic analysis of neurodevelopmental disorders in children.
Wu D et al.
Frontiers in Child and Adolescent Psychiatry, 2022
Structure-function relationships explain CTCF zinc finger mutation phenotypes in cancer.
Bailey CG et al.
Cellular and Molecular Life Sciences : Cmls, 2021
GATA1 mutation analysis and molecular landscape characterization in acute myeloid leukemia with trisomy 21 in pediatric patients.
Panferova A et al.
International Journal of Laboratory Hematology, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Hiraide T et al.
Clinical Genetics, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
Scott TM et al.
Human Mutation, 2020
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Konrad EDH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019