Associated Papers
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.
Zhang L et al.
Genome Medicine, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Effects of higher-than-expected control population allele frequency on classification of loss-of-function variants in cancer susceptibility genes.
Smith MJ et al.
Journal of Medical Genetics, 2025
The molecular landscape of hereditary ataxia: a single-center study.
Bregant E et al.
Human Genetics, 2025
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
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.
Uliana V et al.
Genes, 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
LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.
Farncombe KM et al.
Bmc Medical Genomics, 2022
Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population.
Deng F et al.
Human Mutation, 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
A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review.
Zhao X et al.
Bmc Endocrine Disorders, 2021
Whole-Exome Sequencing on Circulating Tumor Cells Explores Platinum-Drug Resistance Mutations in Advanced Non-small Cell Lung Cancer.
Chang Y et al.
Frontiers in Genetics, 2021
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
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.
Smith MJ et al.
Neurology, 2017
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL et al.
Journal of Medical Genetics, 2015
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