Associated Papers
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Bisarad P et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Implications of monogenic bicuspid aortic valve (BAV) forms among sporadic BAV patients.
Bruenger CMH et al.
European Journal of Human Genetics : Ejhg, 2025
Integrated proteomic and targeted Next Generation Sequencing reveal relevant heterogeneity in lower-grade meningioma and ANXA3 as a new target in NF2 mutated meningiomas.
Shah M et al.
Ebiomedicine, 2025
Molecular profiling of sporadic medullary thyroid carcinomas - a next-generation sequencing-based study.
Altinay S et al.
Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists, 2025
Mutation Patterns Predict Drug Sensitivity in Acute Myeloid Leukemia.
Qin G et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
Circulating Tumor DNA as a Biomarker of Radiographic Tumor Burden in SCLC.
Smith JT et al.
Jto Clinical and Research Reports, 2021
A novel targeted RNA-Seq panel identifies a subset of adult patients with acute lymphoblastic leukemia with BCR-ABL1-like characteristics.
Sánchez R et al.
Blood Cancer Journal, 2020
Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
Van Marcke C et al.
Breast Cancer Research : Bcr, 2020
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF et al.
Genome Medicine, 2019
Exome sequencing in families with chronic central serous chorioretinopathy.
Schellevis RL et al.
Molecular Genetics & Genomic Medicine, 2019
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy.
Girdauskas E et al.
Plos One, 2018
Clonality, Heterogeneity, and Evolution of Synchronous Bilateral Ovarian Cancer.
Yin X et al.
Cancer Research, 2017
Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results.
Girdauskas E et al.
European Journal of Cardio-thoracic Surgery : Official Journal of the European Association for Cardio-thoracic Surgery, 2017