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
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
Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.
Charoenngam N et al.
European Journal of Endocrinology, 2025
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A et al.
Nature Communications, 2025
Mutational profiling using liquid biopsy to guide targeted therapy in patients with metastatic cancer.
Mazouji O et al.
Scientific Reports, 2025
Multi-gene panel sequencing reveals the relationship between driver gene mutation and clinical characteristics in lung adenocarcinoma.
Li J et al.
Discover Oncology, 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
A scalable and cGMP-compatible autologous organotypic cell therapy for Dystrophic Epidermolysis Bullosa.
Neumayer G et al.
Nature Communications, 2024
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
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
Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project.
Huang Z et al.
Kidney International Reports, 2023
Circulating tumor DNA reveals mechanisms of lorlatinib resistance in patients with relapsed/refractory ALK-driven neuroblastoma.
Berko ER et al.
Nature Communications, 2023
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.
Hu L et al.
Npj Breast Cancer, 2022
CPX-351 induces remission in newly diagnosed pediatric secondary myeloid malignancies.
Hu Y et al.
Blood Advances, 2022
Clonal Evolution at First Sight: A Combined Visualization of Diverse Diagnostic Methods Improves Understanding of Leukemic Progression.
Sandmann S et al.
Frontiers in Oncology, 2022
WITHDRAWN: Clinical findings and mutational spectrum of neurofibromatosis type 1 patients in a single center of south part of Turkey.
Demir Gündoğan B et al.
Turkish Journal of Medical Sciences, 2021
Genomic profile of advanced breast cancer in circulating tumour DNA.
Kingston B et al.
Nature Communications, 2021
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
Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.
Peng M et al.
Journal of Medical Genetics, 2019
Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.
Tarlock K et al.
Oncotarget, 2018
Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care.
Muller E et al.
Cancer Medicine, 2015
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.
Yu J et al.
Gut, 2015
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.
Laycock-van Spyk S et al.
Human Genomics, 2011
Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1.
Steinemann D et al.
Haematologica, 2010
Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.
Wimmer K et al.
Human Mutation, 2007
Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.
Maertens O et al.
Human Mutation, 2006
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.
Upadhyaya M et al.
Human Mutation, 2004
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
Fahsold R et al.
American Journal of Human Genetics, 2000