Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1
Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.
Voss RK et al.
Leukemia, 2025
41057686 (PubMed )
Supplement: 41375_2025_2774_MOESM2_ESM.xlsx › S3_-_SNVs__small_INDELS
Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.
Lee JK et al.
Journal of Clinical Immunology, 2025
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276.
Selig M et al.
Febs Open Bio, 2025
Clinical Sequence Revealed the Prevalence and Biological Significance of Somatic Pathogenic Variants in Thoracic Cancer: Implications for Germline Status.
Fukushima T et al.
Clinical Lung Cancer, 2025
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A et al.
Nature Communications, 2025
40169570 (PubMed )
Supplement: 41467_2025_57077_MOESM3_ESM.xlsx › Supplementary_Data_2
Multi-gene panel sequencing reveals the relationship between driver gene mutation and clinical characteristics in lung adenocarcinoma.
Li J et al.
Discover Oncology, 2025
40053265 (PubMed )
Supplement: 12672_2025_2008_MOESM1_ESM.xlsx › Table_S2
Preimplantation Genetic Testing in a Family with Neurofibromatosis Type 1.
Wang L et al.
Genetic Testing and Molecular Biomarkers, 2025
Single-cell DNA and surface protein characterization of high hyperdiploid acute lymphoblastic leukemia at diagnosis and during treatment.
Aertgeerts M et al.
Hemasphere, 2025
39944233 (PubMed )
Supplement: HEM3-9-e70085-s003.xlsx › XI148
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish study.
Tesi B et al.
The Lancet Regional Health. Europe, 2024
38803632 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table_3
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.
Ramamoorthy S et al.
British Journal of Haematology, 2024
Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.
Yang LP et al.
Cell Reports. Medicine, 2023
37794586 (PubMed )
Supplement: mmc4.xlsx › TCGA_path_oncokb
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Villani A et al.
Nature Cancer, 2023
36585449 (PubMed )
Supplement: 43018_2022_474_MOESM10_ESM.xlsx › Table_S5_-_Category_C_variants
Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.
Hu L et al.
Npj Breast Cancer, 2022
35449176 (PubMed )
Supplement: 41523_2022_417_MOESM3_ESM.xlsx › Sheet1
CPX-351 induces remission in newly diagnosed pediatric secondary myeloid malignancies.
Hu Y et al.
Blood Advances, 2022
34710216 (PubMed )
Supplement: advancesADV2021006139-suppl1.pdf
Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.
Sun H et al.
Nature Communications, 2021
34429404 (PubMed )
Supplement: 41467_2021_25177_MOESM8_ESM.xlsx › Sheet1
Genomic profile of advanced breast cancer in circulating tumour DNA.
Kingston B et al.
Nature Communications, 2021
33893289 (PubMed )
Supplement: 41467_2021_22605_MOESM4_ESM.xlsx › SNVs_Indels
Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms.
Rosenthal SH et al.
Plos One, 2021
33909614 (PubMed )
Supplement: pone.0243683.s005.xlsx › S5A
Genomic and transcriptomic alterations associated with drug vulnerabilities and prognosis in adenocarcinoma at the gastroesophageal junction.
Lin Y et al.
Nature Communications, 2020
33257699 (PubMed )
Supplement: 41467_2020_19949_MOESM10_ESM.xlsx › Supplementary_Data_7
Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population.
Saadeh FS et al.
Plos One, 2020
33237934 (PubMed )
Supplement: pone.0242793.s003.xlsx › Sheet1
Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care.
Muller E et al.
Cancer Medicine, 2015
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.
Xu W et al.
International Journal of Molecular Medicine, 2014
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