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Exome sequencing
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Exome sequencing
RIS
0.001
(Research Intensity Score)
Papers
225
Top papers
Tumor cell-based liquid biopsy using high-throughput microfluidic enrichment of entire leukapheresis product
2025 · 46 citations
Early Tumor–Immune Microenvironmental Remodeling and Response to First-Line Fluoropyrimidine and Platinum Chemotherapy in Advanced Gastric Cancer
2021 · 181 citations
Advances in Precision Oncology: From Molecular Profiling to Regulatory-Approved Targeted Therapies
2025 · 13 citations
Clonal evolution of acute myeloid leukemia with FLT3 -ITD mutation under treatment with midostaurin
2021 · 158 citations
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson’s disease risk
2024 · 15 citations
A structurally precise mechanism links an epilepsy-associated KCNC2 potassium channel mutation to interneuron dysfunction
2024 · 21 citations
Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies
2024 · 12 citations
Predictive genomic tools in disease stratification and targeted prevention: a recent update in personalized therapy advancements
2022 · 34 citations
Targeting cancer stem cells predicts response and reverses chemoresistance in ascites-derived ovarian cancer organoids
2026 · 2 citations
Newest papers
Targeting cancer stem cells predicts response and reverses chemoresistance in ascites-derived ovarian cancer organoids
2026 · 2 citations
A de novo IKZF4 Variant Underlies Hypogammaglobulinemia and Increased Infection Susceptibility through Downregulating the NF-κB Pathway
2026
Pathway alteration burden derived from whole‐exome sequencing is associated with survival in primary central nervous system lymphoma
2026
Case Report: Three pathogenic molecular findings in a patient with myotonia congenita, pseudohypoparathyroidism, and a glaucoma-suspect phenotype
2026
Cleidocranial dysplasia with preserved function under conservative management: a case report
2026
A loss-of-function mutation in the GTPase domain of MFN2, perverting mitochondrial dynamics, is associated with dilated cardiomyopathy
2026
Clinical significance of SQSTM1 variants in ALS: report of p.Arg119Cys and literature review
2026
[A novel TPM1 variant causing Dilated cardiomyopathy in a child: A case report and literature review].
2026
Management of Infantile Epileptic Spasms Syndrome: A survey of US pediatric hospitals
2026
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