Associated Papers
STK11 Causative Variants and Copy Number Variations Identified in Thai Patients With Peutz-Jeghers Syndrome.
Chiraphapphaiboon W et al.
Cureus, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t
No Tumor Suppressor Role for LKB1 in Prostate Cancer.
Koseoglu H et al.
Dna and Cell Biology, 2021
New Approach for Detection of Normal Alternative Splicing Events and Aberrant Spliceogenic Transcripts with Long-Range PCR and Deep RNA Sequencing.
Dragoš VŠ et al.
Biology, 2021
34439939 (PubMed )
Supplement: biology-10-00706-s001.zip › New_protocol_LR-PCR_RNAseq-2021_IJMS-Supplementary_table_2.xlsx › control_genotypes
Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.
Yoshizawa T et al.
Npj Precision Oncology, 2021
33863983 (PubMed )
Supplement: 41698_2021_170_MOESM4_ESM.xlsx › Pre_Post_Afatinibshared_variant
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC35
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
Journal of Cellular and Molecular Medicine, 2020
32277576 (PubMed )
Supplement: JCMM-24-4931-s010.xlsx › Sheet1
PMS2 germline mutation c.1577delA (p.Asp526Alafs*69)-induced Lynch syndrome-associated endometrial cancer: A case report.
Cui MH et al.
Medicine, 2019
Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.
Pan ZW et al.
Frontiers in Oncology, 2019
30967997 (PubMed )
Supplement: Table_1.XLSX › Sheet1
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
Suarez-Kelly LP et al.
Cold Spring Harbor Molecular Case Studies, 2018
29449315 (PubMed )
Supplement: supp_mcs.a002352_Supplemental_Table_3.xls › SuppTable3.modified.20171216
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
29649263 (PubMed )
Supplement: pone.0195761.s003.xlsx › S3
Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma.
Olschwang S et al.
Journal of Medical Genetics, 2001
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