Associated Papers
Rare RET Variants in a Patient With MEN2A and Multiple Follicular-Derived Thyroid Tumors: A Case Report and Review of the Literature.
Song Y et al.
International Journal of Surgical Pathology, 2026
Genetic insights into hypospadias in the Taiwanese population: a Whole-Exome Sequencing study in a single center.
Chou CM et al.
Journal of Pediatric Surgery, 2026
Germline variants detected by multigene panel testing in patients with suspected hereditary breast cancer.
Togashi Y et al.
Surgery Today, 2025
Genomic landscape of paired primary and peritoneal metastatic lesions in gastric cancer highlights evolutionary dynamics and mutational drivers.
Li S et al.
Journal of Advanced Research, 2025
Multi-gene panel sequencing reveals the relationship between driver gene mutation and clinical characteristics in lung adenocarcinoma.
Li J et al.
Discover Oncology, 2025
Phenotype and genotype in hereditary chronic intestinal pseudo-obstruction with small intestine involvement.
Chen Y et al.
Frontiers in Medicine, 2025
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Post-mortem genetic analysis of sudden unexplained death in a young cohort: a whole-exome sequencing study.
Wang S et al.
International Journal of Legal Medicine, 2023
RET-Altered Cancers-A Tumor-Agnostic Review of Biology, Diagnosis and Targeted Therapy Activity.
Desilets A et al.
Cancers, 2023
Transcriptomics of Hirschsprung disease patient-derived enteric neural crest cells reveals a role for oxidative phosphorylation.
Li Z et al.
Nature Communications, 2023
Novel and recurrent genetic variants of VHL, SDHB, and RET genes in Chinese pheochromocytoma and paraganglioma patients.
Li C et al.
Frontiers in Genetics, 2023
An integrative pan cancer analysis of RET aberrations and their potential clinical implications.
Zhou L et al.
Scientific Reports, 2022
Somatic RET Indels in Sporadic Medullary Thyroid Cancer: Prevalence and Response to Selpercatinib.
Elisei R et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas
Zhao L et al.
Genes, 2022
Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.
Panda G et al.
Frontiers in Pharmacology, 2022
Association of Pathway Mutations With Survival in Taiwanese Breast Cancers.
Yang PS et al.
Frontiers in Oncology, 2022
Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China.
Qi XP et al.
Bmc Cancer, 2021
Multiple cancer susceptible genes sequencing in BRCA-negative breast cancer with high hereditary risk.
Lang GT et al.
Annals of Translational Medicine, 2020
Oncogenic and drug-sensitive RET mutations in human epithelial ovarian cancer.
Guan L et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2020
Ret Receptor Has Distinct Alterations and Functions in Breast Cancer.
Gattelli A et al.
Journal of Mammary Gland Biology and Neoplasia, 2020
A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.
Nassar AH et al.
British Journal of Cancer, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
Targeted deep sequencing from multiple sources demonstrates increased NOTCH1 alterations in lung cancer patient plasma.
Liao Y et al.
Cancer Medicine, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.
Lee JW et al.
Plos One, 2019
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.
Yamaguchi-Kabata Y et al.
Journal of Human Genetics, 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
ARID1B alterations identify aggressive tumors in neuroblastoma.
Lee SH et al.
Oncotarget, 2017
RET Aberrations in Diverse Cancers: Next-Generation Sequencing of 4,871 Patients.
Kato S et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation.
Rossi V et al.
American Journal of Medical Genetics. Part A, 2016
Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.
Pentsova EI et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2016
HaploShare: identification of extended haplotypes shared by cases and evaluation against controls.
Ying D et al.
Genome Biology, 2015
Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.
Toledo RA et al.
Endocrine-related Cancer, 2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population.
Liebrechts-Akkerman G et al.
International Journal of Legal Medicine, 2014
Screening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations.
Ngo DN et al.
Journal of Pediatric Surgery, 2012
Ancestral mutations may cause a significant proportion of GCK-MODY.
Dusatkova P et al.
Pediatric Diabetes, 2012
Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.
Crockett DK et al.
Genome Medicine, 2012
RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.
So MT et al.
Plos One, 2011