Associated Papers
A multiplex, prime editing framework for identifying drug resistance variants at scale.
Abadie FMC et al.
Cell Genomics, 2026
Clinical Spectrum of Noonan Syndrome-Associated Myeloproliferative Disorder.
Hirabayashi S et al.
American Journal of Hematology, 2026
Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications.
Jiang Y et al.
Prenatal Diagnosis, 2026
Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment
Demir K et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Mutant RIT1 cooperates with YAP to drive an EMT-like lung cancer state.
Rominger MC et al.
Cell Reports, 2025
Sirolimus for Recurrent Chylothorax and Edema in an Infant with Noonan Syndrome after Resolved Hydrops Fetalis: A Case Report.
Hattori M et al.
Ajp Reports, 2025
RIT1M90I Is a Driver of Lung Adenocarcinoma Tumorigenesis and Resistance to Targeted Therapy.
DiMarco AV et al.
Cancer Research, 2025
RIT1 Drives Oncogenic Transformation and Is an Actionable Target in Lung Adenocarcinoma.
Mozzarelli AM et al.
Cancer Research, 2025
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.
Berg T et al.
Neoplasia (new York, N.y.), 2025
A microglia clonal inflammatory disorder in Alzheimer's disease.
Vicario R et al.
Elife, 2025
Oncogenic RIT1 mutations confer ferroptosis vulnerability in lung adenocarcinoma.
Ma R et al.
Biology Direct, 2025
The Genetics of 241 Fetuses With Talipes Equinovarus: A 8-Year Monocentric Retrospective Study.
Pan P et al.
Molecular Genetics & Genomic Medicine, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.
Ahn JH et al.
Npj Genomic Medicine, 2024
Dysregulation of RAS proteostasis by autosomal-dominant LZTR1 mutation induces Noonan syndrome-like phenotypes in mice.
Abe T et al.
Jci Insight, 2024
Mutant RIT1 cooperates with YAP to drive an EMT-like lung cancer state.
Rominger MC et al.
Biorxiv : the Preprint Server for Biology, 2024
Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibition.
Kapp FG et al.
Angiogenesis, 2024
Identification and Characterization of Novel Small-Molecule Enhancers of the CUL3LZTR1 E3 Ligase KRAS Complex.
Piech S et al.
Acs Chemical Biology, 2024
The deubiquitinase USP9X regulates RIT1 protein abundance and oncogenic phenotypes.
Riley AK et al.
Iscience, 2024
A microglia clonal inflammatory disorder in Alzheimer's Disease.
Vicario R et al.
Biorxiv : the Preprint Server for Biology, 2024
UBTF tandem duplications in pediatric myelodysplastic syndrome and acute myeloid leukemia: implications for clinical screening and diagnosis.
Barajas JM et al.
Haematologica, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
MEK Inhibition for RASopathy-Associated Hypertrophic Cardiomyopathy: Clinical Application of a Basic Concept.
Chaput D et al.
The Canadian Journal of Cardiology, 2024
Novel therapeutic perspectives in Noonan syndrome and RASopathies.
Saint-Laurent C et al.
European Journal of Pediatrics, 2024
Myeloproliferative disorder in a patient with RIT1-associated Noonan syndrome: Case report and literature review.
Suzuki K et al.
Pediatric Blood & Cancer, 2024
A new genomic framework to categorize pediatric acute myeloid leukemia.
Umeda M et al.
Nature Genetics, 2024
The deubiquitinase USP9X regulates RIT1 protein abundance and oncogenic phenotypes.
Riley AK et al.
Biorxiv : the Preprint Server for Biology, 2023
An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.
Yi JS et al.
Cardiovascular Drugs and Therapy, 2023
UBTF Tandem Duplications in Pediatric MDS and AML: Implications for Clinical Screening and Diagnosis.
Barajas JM et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Prenatal whole-exome sequencing in fetuses with increased nuchal translucency.
Cao C et al.
Molecular Genetics & Genomic Medicine, 2023
LZTR1 deficiency exerts high metastatic potential by enhancing sensitivity to EMT induction and controlling KLHL12-mediated collagen secretion.
Abe T et al.
Cell Death & Disease, 2023
RAS-dependent RAF-MAPK hyperactivation by pathogenic RIT1 is a therapeutic target in Noonan syndrome-associated cardiac hypertrophy.
Cuevas-Navarro A et al.
Science Advances, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
RASopathies and cardiac manifestations.
Hilal N et al.
Frontiers in Cardiovascular Medicine, 2023
Oncogenic KRAS alters splicing factor phosphorylation and alternative splicing in lung cancer.
Lo A et al.
Bmc Cancer, 2022