Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 2024
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Mastromoro G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis.
Melfi V et al.
Heliyon, 2024
Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome.
Busley AV et al.
Cell Reports, 2024
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.
Uliana V et al.
Genes, 2024
Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.
Wang S et al.
Journal of Cellular and Molecular Medicine, 2024
RASopathies are the most common set of monogenic syndromes identified by exome sequencing for nonimmune hydrops fetalis: A systematic review and meta-analysis.
Makhamreh MM et al.
American Journal of Medical Genetics. Part A, 2024
Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants.
Knauer C et al.
Molecular Therapy. Nucleic Acids, 2024
Clinical and genetic characteristics in lymphoma patients with a second solid malignancy.
Zhou D et al.
Frontiers in Oncology, 2023
Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory.
Lai THT et al.
Healthcare (basel, Switzerland), 2022
Comprehensive genomic profiling of colorectal cancer patients reveals differences in mutational landscapes among clinical and pathological subgroups.
Li P et al.
Frontiers in Oncology, 2022
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Hereditary cancer syndrome-associated pathogenic variants are common in patients with hematologic malignancies subsequent to primary solid cancer.
Oh J et al.
Journal of Cancer, 2021
Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy.
Hanses U et al.
Circulation, 2020
Characterization of tumor mutation burden, PD-L1 and DNA repair genes to assess relationship to immune checkpoint inhibitors response in metastatic renal cell carcinoma.
Labriola MK et al.
Journal for Immunotherapy of Cancer, 2020
Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
Lin PC et al.
Scientific Reports, 2019
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.
Kehrer-Sawatzki H et al.
Human Genetics, 2017
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
Smith MJ et al.
Neurology, 2015
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
Piotrowski A et al.
Nature Genetics, 2014