Associated Papers
Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.
Brown JR et al.
Blood, 2026
Lztr1 deficiency contributes to the pathogenesis of dilated cardiomyopathy via RAP1/PI3K/AKT-mediated myocardial Injury.
Yang L et al.
International Journal of Biological Macromolecules, 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
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
Biventricular outflow tract obstruction due to hypertrophy related to compound heterozygous variants in LZTR1.
Wang S et al.
Esc Heart Failure, 2024
Generation of a human induced pluripotent stem cell line from a female patient carrying LZTR1 gene mutation.
Ruan J et al.
Stem Cell Research, 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
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.
Uliana V et al.
Genes, 2024
Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.
Misra K et al.
International Journal of Molecular Sciences, 2024
Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.
Han SH et al.
European Urology Open Science, 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
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 2023
Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
Han S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
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
Molecular landscape of osimertinib resistance in patients and patient-derived preclinical models.
Lim SM et al.
Therapeutic Advances in Medical 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
Two Novel Cases of Autosomal Recessive Noonan Syndrome Associated With LZTR1 Variants.
Perin F et al.
Revista Espanola De Cardiologia (english Ed.), 2019
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.
Hauer NN et al.
European Journal of Human Genetics : Ejhg, 2019
Pain correlates with germline mutation in schwannomatosis.
Jordan JT et al.
Medicine, 2018