Associated Papers
Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.
Nakata E et al.
Cancer Science, 2026
Biomarker analysis of the ASPEN study comparing zanubrutinib with ibrutinib for patients with Waldenström macroglobulinemia.
Tam CS et al.
Blood Advances, 2024
Mutational spectrum of ATRX aberrations in neuroblastoma and associated patient and tumor characteristics.
van Gerven MR et al.
Cancer Science, 2022
ATR-X syndrome: genetics, clinical spectrum, and management.
León NY et al.
Human Genetics, 2021
Histiocytic and Dendritic Cell Sarcomas of Hematopoietic Origin Share Targetable Genomic Alterations Distinct from Follicular Dendritic Cell Sarcoma.
Massoth LR et al.
The Oncologist, 2021
A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families.
Stabile M et al.
Molecular Medicine Reports, 2020
High Molecular Diagnosis Rate in Undermasculinized Males with Differences in Sex Development Using a Stepwise Approach.
Jacobson JD et al.
Endocrinology, 2020
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Ji J et al.
Cold Spring Harbor Molecular Case Studies, 2019
Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients.
Masliah-Planchon J et al.
European Journal of Human Genetics : Ejhg, 2018
Alternative lengthening of telomeres phenotype and loss of ATRX expression in sarcomas.
Ren X et al.
Oncology Letters, 2018
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
Ji J et al.
American Journal of Medical Genetics. Part A, 2017
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.
Brett M et al.
Plos One, 2014
Neuroradiologic features in X-linked α-thalassemia/mental retardation syndrome.
Wada T et al.
Ajnr. American Journal of Neuroradiology, 2013
Patient mutations alter ATRX targeting to PML nuclear bodies.
Bérubé NG et al.
European Journal of Human Genetics : Ejhg, 2008
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.
Badens C et al.
Clinical Genetics, 2006
ATRX and sex differentiation.
Tang P et al.
Trends in Endocrinology and Metabolism: Tem, 2004
Molecular-clinical spectrum of the ATR-X syndrome.
Gibbons RJ et al.
American Journal of Medical Genetics, 2000
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.
Villard L et al.
Journal of Medical Genetics, 1999