Associated Papers
Early diagnosis of fetal ganglionic eminence cysts: imaging, outcome and genetic associations, revealing role of mitochondrial dysfunction.
Birnbaum R et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2026
Ventricular arrhythmia and Noonan syndrome with leucine zipperlike transcription regulator 1 mutations: expanding the phenotype with a case report and review of the literature.
Liu Z et al.
Cardiology in the Young, 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
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 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
A Novel SCN5A Mutation (c.589G>A) Is Associated With Intermittent Atrial Standstill and Conduction System Disease.
Kohli U et al.
Jacc. Case Reports, 2025
Germline pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas.
Saoud C et al.
Npj Precision Oncology, 2025
A comprehensive analysis of germline predisposition to early-onset ovarian cancer.
Horackova K et al.
Scientific Reports, 2024
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.
Uliana V et al.
Genes, 2024
Minor introns impact on hematopoietic malignancies.
Nishimura K et al.
Experimental Hematology, 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
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities.
Nakashima M et al.
Journal of Human Genetics, 2023
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 2023
Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality.
Unuma K et al.
Frontiers in Immunology, 2023
Transposable element insertions in 1000 Swedish individuals.
Bilgrav Saether K et al.
Plos One, 2023
Dysregulated minor intron splicing in cancer.
Nishimura K et al.
Cancer Science, 2022
Challenges in genetic diagnosis, co-occurrence of 22q11.2 deletion syndrome and Noonan syndrome.
Chinton J et al.
American Journal of Medical Genetics. Part A, 2022
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
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 2022
Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.
Pitsava G et al.
American Journal of Medical Genetics. Part A, 2021
LZTR1: A promising adaptor of the CUL3 family.
Zhang H et al.
Oncology Letters, 2021
Sporadic vestibular schwannoma: a molecular testing summary.
Sadler KV et al.
Journal of Medical Genetics, 2021
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
Common germline-somatic variant interactions in advanced urothelial cancer.
Vosoughi A et al.
Nature Communications, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Providing more evidence on LZTR1 variants in Noonan syndrome patients.
Chinton J et al.
American Journal of Medical Genetics. Part A, 2020
The molecular landscape of ETMR at diagnosis and relapse.
Lambo S et al.
Nature, 2019
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Pagnamenta AT et al.
Clinical Genetics, 2019
RIT1 oncoproteins escape LZTR1-mediated proteolysis.
Castel P et al.
Science (new York, N.y.), 2019
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
Umeki I et al.
Human Genetics, 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
Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.
Kehrer-Sawatzki H et al.
Human 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
Expanding the mutational spectrum of LZTR1 in schwannomatosis.
Paganini I et al.
European Journal of Human Genetics : Ejhg, 2015
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL et al.
Journal of Medical Genetics, 2015