Associated Papers
Genomic and transcriptomic landscapes of metastatic neuroendocrine neoplasms from distinct primary sites and their clinical implications.
Wee K et al.
Scientific Reports, 2025
40328872 (PubMed )
Supplement: 41598_2025_549_MOESM4_ESM.xlsx › Sheet_1
Identification of genomic biomarkers of disease progression and survival in primary CNS lymphoma.
Geng H et al.
Blood Advances, 2025
39536287 (PubMed )
Supplement: BLOODA_ADV-2024-014460-mmc1.pdf
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
High number of candidate gene variants are identified as disease-causing in a period of 4 years.
Hills S et al.
American Journal of Medical Genetics. Part A, 2024
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
Lehalle D et al.
Journal of Medical Genetics, 2020
TFE3-associated neurodevelopmental disorder: A distinct recognizable syndrome.
Diaz J et al.
American Journal of Medical Genetics. Part A, 2020
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.
Villegas F et al.
Cell Stem Cell, 2019
Molecular characterization of metastatic pancreatic neuroendocrine tumors (PNETs) using whole-genome and transcriptome sequencing.
Wong HL et al.
Cold Spring Harbor Molecular Case Studies, 2018
29092957 (PubMed )
Supplement: supp_mcs.a002329_Supplemental_Data_1.xlsx › Case_5
A Rare Case of an Infant With TFE3 Mutation Presenting With Direct Hyperbilirubinemia and Hepatomegaly.
Zhang Q et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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