Associated Papers
New insights into tuberous sclerosis complex: from structure to pathogenesis.
Chen CS et al.
Frontiers in Cell and Developmental Biology, 2025
Alleviating misclassified germline variants in underrepresented populations: A strategy using popmax.
Lee NY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.
Kage H et al.
Cancer Science, 2023
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Yu H et al.
Frontiers in Oncology, 2022
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Early-onset colorectal cancer: A distinct entity with unique genetic features.
Jiang D et al.
Oncology Letters, 2020
Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.
Chen B et al.
Aging, 2020
Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.
Jiangyi W et al.
Aging, 2020
The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.
Zhang N et al.
Frontiers in Genetics, 2020
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.
Shoji T et al.
Plos One, 2019
SMAD4 and NF1 mutations as potential biomarkers for poor prognosis to cetuximab-based therapy in Chinese metastatic colorectal cancer patients.
Mei Z et al.
Bmc Cancer, 2018
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.
Lu H et al.
Bmc Cancer, 2018
Prenatal diagnosis of tuberous sclerosis complex using fetal ultrasonography and magnetic resonance imaging and genetic testing.
Wang CC et al.
Taiwanese Journal of Obstetrics & Gynecology, 2018
The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing.
Yang F et al.
Oncotargets and Therapy, 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis.
Liu Q et al.
Journal of Child Neurology, 2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Bahl S et al.
Molecular Autism, 2013
High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.
Kelleher RJ et al.
Plos One, 2012
Prenatal molecular diagnosis of tuberous sclerosis complex.
Milunsky A et al.
American Journal of Obstetrics and Gynecology, 2009
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
Hung CC et al.
Bmc Medical Genetics, 2006
Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.
Choi JE et al.
Brain & Development, 2006
Why are some human disease-associated mutations fixed in mice?
Gao L et al.
Trends in Genetics : Tig, 2003
[Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism].
Feng JH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2003
Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.
Yamamoto T et al.
Brain & Development, 2002
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
Zhang H et al.
Journal of Human Genetics, 1999