Associated Papers
Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis, and other skeletal features.
Ettaki I et al.
Hgg Advances, 2025
Comprehensive characterization of early-onset lung cancer, in Chinese young adults.
Tian Y et al.
Nature Communications, 2025
40000630 (PubMed )
Supplement: 41467_2025_57309_MOESM8_ESM.xlsx › DNA_results
Heterozygous variants of NOD2, IL10RA, PLA2G6 and COL7A1 correlate with Crohn's disease.
Zhang Q et al.
Heliyon, 2024
38163100 (PubMed )
Supplement: mmc1.xlsx › Sheet1
A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.
Lin X et al.
Frontiers in Pediatrics, 2024
38832002 (PubMed )
Supplement: Table1.xlsx › filter_variants
Multifocal organoids reveal clonal associations between synchronous intestinal tumors with pervasive heterogeneous drug responses.
Jeong N et al.
Npj Genomic Medicine, 2022
35853873 (PubMed )
Supplement: 41525_2022_313_MOESM3_ESM.xlsx › Supplementary_Data_2d
Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.
Kim SC et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022
34918496 (PubMed )
Supplement: ADVS-9-2103360-s002.xlsx › Table_S2B
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Li Y et al.
Frontiers in Oncology, 2022
36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1
Primary renal well-differentiated neuroendocrine tumour (carcinoid): next-generation sequencing study of 11 cases.
Pivovarcikova K et al.
Histopathology, 2019
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › 20160703_supplemental_data_FINAL_160706.docx
Select a paper to view details