Associated Papers
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
Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing.
Elisei R et al.
Endocrine, 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
Investigation of germline variants in Bahraini women with breast cancer using next-generation sequencing based-multigene panel.
Al-Kafaji G et al.
Plos One, 2023
Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.
Wang T et al.
Computational and Structural Biotechnology Journal, 2023
Novel Calcium-Binding Ablating Mutations Induce Constitutive RET Activity and Drive Tumorigenesis.
Tabata J et al.
Cancer Research, 2022
Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma.
Kim JH et al.
Journal of Medical Genetics, 2022
Hereditary variants of unknown significance in African American women with breast cancer.
McDonald JT et al.
Plos One, 2022
Landscape of drug-resistance mutations in kinase regulatory hotspots.
Kim P et al.
Briefings in Bioinformatics, 2021
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.
Woodhouse R et al.
Plos One, 2020
Targeted mutation detection in breast cancer using MammaSeq™.
Smith NG et al.
Breast Cancer Research : Bcr, 2019
Bilateral Pheochromocytomas in MEN2A Syndrome: A Two-Institution Experience.
Lang BH et al.
World Journal of Surgery, 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
Germline mutations and genotype-phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea.
Kim JH et al.
Clinical Genetics, 2014
Multiple functional effects of RET kinase domain sequence variants in Hirschsprung disease.
Hyndman BD et al.
Human Mutation, 2013
Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.
Carter TC et al.
Journal of Human Genetics, 2012
Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.
Crockett DK et al.
Genome Medicine, 2012
Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.
Crockett DK et al.
Plos One, 2011
Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in central congenital hyperventilation syndrome patients by multiplex ligation-dependent probe amplification.
Serra A et al.
Annals of Human Genetics, 2010
[Molecular biology, basic research and diagnosis of Hirschsprung's disease].
Martucciello G et al.
Der Pathologe, 2007
Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients.
Fitze G et al.
Journal of Medical Genetics, 2003