Associated Papers
MAX-Related Disorder: Expanding the Phenotype of the Recurrent p.Arg60Gln Variant.
Gomes A et al.
American Journal of Medical Genetics. Part A, 2026
Multiple Endocrine Neoplasia Type 5 due to Germline MAX Mutations: A Systematic Review of Tumor Spectrum and Clinical Features.
Charoenngam N et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2025
Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.
Domenico D et al.
Nature Communications, 2025
Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome.
Showpnil IA et al.
Clinical Genetics, 2025
Longitudinal Insights Into Polydactyly-Macrocephaly Syndrome: A Case Report of an Adult With a Recurrent MAX Variant.
de Oliveira RS et al.
American Journal of Medical Genetics. Part A, 2025
Comprehensive genetic variant analysis reveals combination of KRAS and LRP1B as a predictive biomarker of response to immunotherapy in patients with non-small cell lung cancer.
Eklund EA et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2025
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc Cancer, 2025
The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).
Zhang L et al.
Elife, 2024
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.
Harris EL et al.
American Journal of Human Genetics, 2024
Establishment and Comprehensive Characterization of a Novel Preclinical Platform of Metastatic Retinoblastoma for Therapeutic Developments.
Zugbi S et al.
Investigative Ophthalmology & Visual Science, 2023
Orphan quality control shapes network dynamics and gene expression.
Mark KG et al.
Cell, 2023
The Swedish childhood tumor biobank: systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden.
Díaz de Ståhl T et al.
Journal of Translational Medicine, 2023
Simultaneous Ultra-Sensitive Detection of Structural and Single Nucleotide Variants Using Multiplex Droplet Digital PCR in Liquid Biopsies from Children with Medulloblastoma.
Arthur C et al.
Cancers, 2023
A CTNNB1-altered medulloblastoma shows the immunophenotypic, DNA methylation and transcriptomic profiles of SHH-activated, and not WNT-activated, medulloblastoma.
Chiang J et al.
Neuropathology and Applied Neurobiology, 2022
Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers.
Shukla N et al.
Nature Communications, 2022
MYCN and MAX alterations in Wilms tumor and identification of novel N-MYC interaction partners as biomarker candidates.
Jiménez Martín O et al.
Cancer Cell International, 2021
Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.
Liu S et al.
Communications Biology, 2021
Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses.
Brzezinski J et al.
British Journal of Cancer, 2021
High-risk blastemal Wilms tumor can be modeled by 3D spheroid cultures in vitro.
Wegert J et al.
Oncogene, 2020
MAX Mutations in Endometrial Cancer: Clinicopathologic Associations and Recurrent MAX p.His28Arg Functional Characterization.
Walker CJ et al.
Journal of the National Cancer Institute, 2018
A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor.
Gadd S et al.
Nature Genetics, 2017
MAX is an epigenetic sensor of 5-carboxylcytosine and is altered in multiple myeloma.
Wang D et al.
Nucleic Acids Research, 2017
A case study of an integrative genomic and experimental therapeutic approach for rare tumors: identification of vulnerabilities in a pediatric poorly differentiated carcinoma.
Dela Cruz FS et al.
Genome Medicine, 2016
The genomic landscape and evolution of endometrial carcinoma progression and abdominopelvic metastasis.
Gibson WJ et al.
Nature Genetics, 2016
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
Chang MT et al.
Nature Biotechnology, 2016